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1
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Marcelis L, Folpe AL. "Putting the cart before the horse": an update on promiscuous gene fusions in soft tissue tumors. Virchows Arch 2025:10.1007/s00428-025-04099-1. [PMID: 40205020 DOI: 10.1007/s00428-025-04099-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/12/2025] [Revised: 03/31/2025] [Accepted: 04/02/2025] [Indexed: 04/11/2025]
Abstract
The ever-increasing availability and affordability of molecular genetic testing has revolutionized our understanding of the pathogenesis and proper classification of soft tissue tumors but has also brought new challenges. As is known, many soft tissue tumors harbor gene fusion events, and while it was initially thought that individual entities would be defined by single, specific fusions, it quickly became clear that some entities could be caused by several different fusion events (e.g., EWSR1::FLI1, EWSR1::ERG, EWSR1:FEV and others in Ewing sarcoma). More recently, it has become apparent that these fusion events themselves are "promiscuous", appearing in more than one discrete entity (e.g., EWSR1::CREB1 in clear cell sarcoma, angiomatoid fibrous histiocytoma and others). This review article will briefly discuss the best known examples of genetic promiscuity, the EWSR1/FUS::ATF1/CREB1 and ETV6::NTRK3 fusions, and more comprehensively cover recently discovered and less well-known examples of genetic promiscuity, including EWSR1::WT1, MALAT1::GLI1, YAP1::TFE3 and fusions involving members of the FET and ETS gene families.
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Affiliation(s)
- Lukas Marcelis
- Department of Pathology, University Hospitals Leuven, (UZ Leuven), 3000, Leuven, Belgium.
| | - Andrew L Folpe
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55902, USA
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2
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Sidorov IV, Sharlai AS, Konovalov DM. [Gastric tumors with GLI1 gene alterations (plexiform fibromyxoma and gastroblastoma). Case report and literature review]. Arkh Patol 2025; 87:37-40. [PMID: 39943727 DOI: 10.17116/patol20258701137] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/09/2025]
Abstract
Plexiform fibromyxoma (PFM) and gastroblastoma (GB) are rare gastric tumors with a specific MALAT1::GLI1 rearrangement, included in the conditional spectrum of neoplasms with alterations of the GLI1 gene. The article presents a clinical case of PFM in a 6-year-old girl and a literature review highlighting current data on the morphology, immunophenotype and molecular genetic characteristics of PFM and GB. Despite the common genetic anomaly, differences in the morphology and clinical course of these tumors indicate the need for further research to clarify their relationship and potential reclassification in the light of new data on tumors with GLI1 gene abnormalities. Integrating the accumulated knowledge about tumors with GLI1 gene alterations into diagnostic algorithms and therapeutic approaches will help improve the treatment outcomes of patients with these rare neoplasms.
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Affiliation(s)
- I V Sidorov
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
| | - A S Sharlai
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
| | - D M Konovalov
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
- Russian Medical Academy of Continuous Professional Education, Moscow, Russia
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3
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Prasad AS, Shanbhogue KP, Ramani NS, Balasubramanya R, Surabhi VR. Non-gastrointestinal stromal tumor, mesenchymal neoplasms of the gastrointestinal tract: a review of tumor genetics, pathology, and cross-sectional imaging findings. Abdom Radiol (NY) 2024; 49:1716-1733. [PMID: 38691132 DOI: 10.1007/s00261-024-04329-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/16/2024] [Revised: 04/01/2024] [Accepted: 04/02/2024] [Indexed: 05/03/2024]
Abstract
There is a diverse group of non-gastrointestinal stromal tumor (GIST), mesenchymal neoplasms of the gastrointestinal (GI) tract that demonstrate characteristic pathology and histogenesis as well as variable imaging findings and biological behavior. Recent advancements in tumor genetics have unveiled specific abnormalities associated with certain tumors, influencing their molecular pathogenesis, biology, response to treatment, and prognosis. Notably, giant fibrovascular polyps of the esophagus, identified through MDM2 gene amplifications, are now classified as liposarcomas. Some tumors exhibit distinctive patterns of disease distribution. Glomus tumors and plexiform fibromyxomas exhibit a pronounced affinity for the gastric antrum. In contrast, smooth muscle tumors within the GI tract are predominantly found in the esophagus and colorectum, surpassing the incidence of GISTs in these locations. Surgical resection suffices for symptomatic benign tumors; multimodality treatment may be necessary for frank sarcomas. This article aims to elucidate the cross-sectional imaging findings associated with a wide spectrum of these tumors, providing insights that align with their histopathological features.
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Affiliation(s)
| | | | - Nisha S Ramani
- Department of Pathology, Michael E. DeBakey VA Medical Center, Houston, USA
| | | | - Venkateswar R Surabhi
- Department of Abdominal Imaging, University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Unit 1473, Houston, TX, 77030, USA.
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4
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Di Mauro A, Rega RA, Leongito M, Albino V, Palaia R, Gualandi A, Belli A, D’Arbitrio I, Moccia P, Tafuto S, De Chiara A, Ottaiano A, Ferrara G. Plexiform Fibromyxoma in the Stomach: Immunohistochemical Profile and Comprehensive Genetic Characterization. Int J Mol Sci 2024; 25:4847. [PMID: 38732067 PMCID: PMC11084853 DOI: 10.3390/ijms25094847] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/02/2024] [Revised: 04/22/2024] [Accepted: 04/24/2024] [Indexed: 05/13/2024] Open
Abstract
Plexiform fibromyxoma (PF), also referred to as plexiform angiomyxoid myofibroblast tumor, is an exceedingly rare mesenchymal neoplasm primarily affecting the stomach. Herein, we present a case of PF diagnosed in a 71-year-old male with a history of lung cancer, initially suspected to have a gastrointestinal stromal tumor (GIST) of the stomach, who subsequently underwent subtotal gastrectomy. The histopathological and molecular features of the tumor, including mutations in ABL1, CCND1, CSF1R, FGFR4, KDR, and MALAT1-GLI1 fusion, are elucidated and discussed in the context of diagnostic, prognostic, and therapeutic considerations.
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Affiliation(s)
- Annabella Di Mauro
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Rosalia Anna Rega
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Maddalena Leongito
- Department of Gastro-Hepato-Pancreato-Biliary Surgery, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (M.L.); (V.A.); (R.P.); (A.B.)
| | - Vittorio Albino
- Department of Gastro-Hepato-Pancreato-Biliary Surgery, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (M.L.); (V.A.); (R.P.); (A.B.)
| | - Raffaele Palaia
- Department of Gastro-Hepato-Pancreato-Biliary Surgery, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (M.L.); (V.A.); (R.P.); (A.B.)
| | - Alberto Gualandi
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Andrea Belli
- Department of Gastro-Hepato-Pancreato-Biliary Surgery, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (M.L.); (V.A.); (R.P.); (A.B.)
| | - Imma D’Arbitrio
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Pasquale Moccia
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Salvatore Tafuto
- Sarcomas and Rare Tumors Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Naples, Italy;
| | - Annarosaria De Chiara
- Histopathology of Lymphomas and Sarcomas SSD, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Naples, Italy;
| | - Alessandro Ottaiano
- Division of Innovative Therapies for Abdominal Metastases, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Naples, Italy;
| | - Gerardo Ferrara
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
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5
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Sugimura N, Kubota E, Sasaki M, Fukusada S, Mizuno Y, Iwasaki H, Tanaka M, Ozeki K, Shimura T, Kataoka H. A case of asymptomatic gastric plexiform fibromyxoma followed up for 3 years. DEN OPEN 2024; 4:e291. [PMID: 37731837 PMCID: PMC10508324 DOI: 10.1002/deo2.291] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 04/05/2023] [Revised: 08/17/2023] [Accepted: 08/19/2023] [Indexed: 09/22/2023]
Abstract
Plexiform fibromyxoma is a rare mesenchymal tumor identified in recent years and presents as a gastrointestinal submucosal tumor that is typically located in the gastric antrum. We report a case of gastric plexiform fibromyxoma in which the diagnosis was difficult despite repeated tissue sampling. Before visiting our hospital, the patient had been followed up for 3 years without a definitive diagnosis despite serial examinations, including computed tomography, endoscopy, endoscopic ultrasound, and endoscopic ultrasound-guided fine-needle aspiration. Endoscopic ultrasound-guided fine-needle aspiration was reperformed, and endoscopic submucosal dissection for deep biopsy was conducted for differential diagnosis of the tumor. However, histological analysis with immunostaining of tumor samples obtained using these techniques cannot provide a reliable diagnosis. Finally, the tumor was resected surgically because of its increasing size, and subsequent microscopic analysis revealed a multinodular plexiform growth pattern of spindle-like cells with myxoid stroma. Immunohistochemically, the tumor cells were positive for smooth muscle actin but negative for c-kit, CD34, and S100. Based on these findings, the patient was diagnosed with plexiform fibromyxoma. No evidence of residual or recurrent tumors was observed at 24 months postoperatively.
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Affiliation(s)
- Naomi Sugimura
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
| | - Eiji Kubota
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
| | - Makiko Sasaki
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
| | - Shigeki Fukusada
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
| | - Yusuke Mizuno
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
| | - Hiroyasu Iwasaki
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
| | - Mamoru Tanaka
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
| | - Keiji Ozeki
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
| | - Takaya Shimura
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
| | - Hiromi Kataoka
- Department of Gastroenterology and MetabolismNagoya City University Graduate School of Medical SciencesAichiJapan
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6
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Xia Z, Zhou Z, Guo W, Wang H, Wang F, Zhou F. Endoscopic submucosal excavation for gastric plexiform fibromyxoma: A case report and systematic review of literature. Front Oncol 2023; 13:1090259. [PMID: 37035143 PMCID: PMC10080140 DOI: 10.3389/fonc.2023.1090259] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/05/2022] [Accepted: 03/13/2023] [Indexed: 04/11/2023] Open
Abstract
Plexiform fibromyxoma (PF) is a rare mesenchymal tumor of which the pathogenesis and molecular changes are still unclear. Histologically, it is characterized by a cluster of bland spindle or ovoid cells growing in the mucoid or fibromyxoid stroma rich in small blood vessels. At present, surgical resection is the primary treatment for PF.
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Affiliation(s)
- Ziqin Xia
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
| | - Zhidai Zhou
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
| | - Wei Guo
- Department of Pathology, Zhongnan Hospital of Wuhan University, Wuhan, China
| | - Hongling Wang
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
| | - Fan Wang
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
| | - Feng Zhou
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
- *Correspondence: Feng Zhou,
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7
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Krishnan SK, Chirukandath R, Zachariah T, Thomas RS. An Unusual Stomach Tumour: Plexiform Angiomyxoid Fibroma Stomach-A Case Report. Indian J Surg Oncol 2022; 13:691-695. [PMID: 36687230 PMCID: PMC9845497 DOI: 10.1007/s13193-022-01625-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/25/2022] [Accepted: 08/10/2022] [Indexed: 01/25/2023] Open
Abstract
Plexiform angiomyxoid myofibroblast tumour (PAMT) is a rare mesenchymal tumour of the stomach. To date, about 45 cases of PAMT have been reported in the literature. This is an extremely rare mesenchymal gastric tumour with definite histological pattern and is a tumour typified by spindle cells with myofibroblast characteristics. A 70-year-old woman was admitted with vague upper abdominal pain and dyspepsia and on OGD was found to have a polypoidal lesion with ulceration on the posterior wall of the body of the stomach towards the greater curvature. The endoscopy biopsy suggested the above diagnosis. The patient was investigated with CT scan and CT showed a large nodular growth 10 × 8 cm with pancreatic tail involvement and splenic involvement. The patient was treated with multi-visceral resection and favourable outcome was achieved. This entity of PAMT was a histological rarity and a technically challenging case and hence was analysed and presented. PAMT is a rare mesenchymal tumour of the stomach and is characterised by spindle cells with myofibroblast characteristics with a potential to differentiate towards smooth muscle cells. These tumours have a benign course and rarely can have an infiltrative behaviour. PAMT of the stomach is a very rare mesenchymal tumour with a unique histological appearance, and it needs to be distinguished from GIST and other gastrointestinal mesenchymal tumours, although extra gastric extension and vascular invasion are sometimes observed. Here, we are reporting this case as a case of PAMT arising from the body of the stomach which required multi-visceral resection.
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Affiliation(s)
- Sharath K. Krishnan
- Department of General Surgery, Government Medical College, Thrissur, 680596 Kerala India
| | - Ravindran Chirukandath
- Department of General Surgery, Government Medical College, Thrissur, 680596 Kerala India
| | - Togy Zachariah
- Department of Pathology, Government Medical College, Thrissur, 680596 Kerala India
| | - Rajiv Sajan Thomas
- Department of General Surgery, Government Medical College, Thrissur, 680596 Kerala India
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8
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Higashi M, Hamada T, Sasaki K, Tsuruda Y, Shimonosono M, Kitazono I, Kirishima M, Tasaki T, Noguchi H, Tabata K, Hisaoka M, Fukukura Y, Ohtsuka T, Tanimoto A. Esophageal plexiform fibromyxoma: A case report with molecular analysis for MALAT1-GLI1 fusion. Pathol Res Pract 2022; 233:153878. [DOI: 10.1016/j.prp.2022.153878] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/25/2022] [Revised: 03/30/2022] [Accepted: 04/01/2022] [Indexed: 02/07/2023]
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9
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Zhang R, Xia LG, Huang KB, Chen ND. Huge gastric plexiform fibromyxoma presenting as pyemia by rupture of tumor: A case report. World J Clin Cases 2022; 10:2253-2260. [PMID: 35321180 PMCID: PMC8895193 DOI: 10.12998/wjcc.v10.i7.2253] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/09/2021] [Revised: 10/25/2021] [Accepted: 01/22/2022] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Plexiform fibromyxoma (PF) is a rare mesenchymal tumor, with limited case reports worldwide. Common clinical symptoms are abdominal discomfort and bleeding signs, which frequently present slow-onset in reported cases. Herein, we report a case of gastric PF presenting as acute onset and with pyemia accom-panying tumor rupture. We resected the tumor as well as the distal gastric, bulbus duodeni and gallbladder for treatment in emergency surgery. Notably, before the onset of the disease, the patient received coronavirus disease 2019 (COVID-19) vaccines.
CASE SUMMARY A 26-year-old man was admitted to our hospital, due to abdominal pain and fever after having received COVID-19 vaccines. Laboratory examination indicated severe sepsis. Computed tomography scan revealed a large mass in the abdomen. Deformation of the gastrointestinal tract was seen during gastroscopy. After failure of anti-infective treatment and symptoms of shock developed, he received an emergency surgery. We found a huge and partly ruptured mass, with thick purulence. Microscopically, the mass was composed of spindle cells with clarified cytoplasm, accompanied by myxoid stroma and arborizing blood vessels. Immunohistochemistry showed the tumor cells as positive for smooth muscle actin and succinate dehydrogenase subunit B but negative for DOG-1 and CD117. Finally, the patient was diagnosed with gastric PF and discharged from the hospital.
CONCLUSION Gastric PF manifesting as tumor rupture combined with pyemia is rare. Timely surgery is critical for optimal prognosis.
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Affiliation(s)
- Rui Zhang
- The Second Clinical Medical College, Shenzhen People’s Hospital, Jinan University, Shenzhen 518020, Guangdong Province, China
| | - Li-Gang Xia
- The Second Clinical Medical College, Shenzhen People’s Hospital, Jinan University, Shenzhen 518020, Guangdong Province, China
| | - Kai-Bin Huang
- The Second Clinical Medical College, Shenzhen People’s Hospital, Jinan University, Shenzhen 518020, Guangdong Province, China
| | - Nan-Di Chen
- The Second Clinical Medical College, Shenzhen People’s Hospital, Jinan University, Shenzhen 518020, Guangdong Province, China
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10
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Gong EJ, Yang YJ, Han SH, Bang CS. Gastric Plexiform Fibromyxoma Incidentally Found in the Routine Checkup. THE KOREAN JOURNAL OF GASTROENTEROLOGY 2022. [DOI: 10.4166/kjg.2022.019] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/03/2022]
Affiliation(s)
- Eun Jeong Gong
- Department of Internal Medicine, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung, Korea
| | - Young Joo Yang
- Department of Internal Medicine, Hallym University College of Medicine, Chuncheon, Korea
| | - Sang Hak Han
- Department of Pathology, Hallym University College of Medicine, Chuncheon, Korea
| | - Chang Seok Bang
- Department of Internal Medicine, Hallym University College of Medicine, Chuncheon, Korea
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11
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Agaimy A. [Mesenchymal tumors and tumor-like lesions of the gastrointestinal tract: an overview]. DER PATHOLOGE 2022; 43:31-44. [PMID: 34919183 DOI: 10.1007/s00292-021-01040-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 11/15/2021] [Indexed: 06/14/2023]
Abstract
Mesenchymal tumors and tumor-like lesions of the gastrointestinal (GI) tract are uncommon. They vary from reactive tumefactive lesions and benign neoplasms to highly aggressive sarcomas. Among them, GI stromal tumors (GISTs) are most common, followed, with less frequency, by smooth muscle and neurogenic tumors. The major challenge resides in correctly identifying GISTs and providing a comprehensive report (including risk assessment and genotyping) that represents the basis for an optimized surgical-oncological treatment and/or adjuvant therapy. On the other hand, the challenge of benign lesions is to find a good name (well understandable and reproducible diagnostic term) that helps avoid diagnostic ambiguity and prognostic uncertainty so that overprognostication and overtreatment can be prevented. Moreover, several recently described genetically defined benign and malignant entities need be correctly diagnosed due to their special "targeted" therapeutic options and to further characterize their clinicopathological and biological properties in the future. These recent entities include aggressive epithelioid inflammatory myofibroblastic sarcoma (ALK-RANBP2-driven), malignant gastrointestinal neuroectodermal tumor (EWSR1-ATF1/CREB-related), NTRK-rearranged neoplasms, and, most recently, colorectal NUTM1-rearranged sarcomas. This review highlights the major clinicopathological features of gastrointestinal mesenchymal lesions in light of recent developments.
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Affiliation(s)
- Abbas Agaimy
- Pathologisches Institut, Universitätsklinikum Erlangen, Krankenhausstraße 8-10, 91054, Erlangen, Deutschland.
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12
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Ayyanar P, Nayak HK, Samal SC, Kar M, Mishra P, Patra S. Recurrent plexiform angiomyxoid myofibroblastic tumour (PAMT) of the stomach with aggressive behaviour. Pathology 2021; 54:650-654. [PMID: 34865869 DOI: 10.1016/j.pathol.2021.09.010] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/27/2021] [Revised: 09/05/2021] [Accepted: 09/14/2021] [Indexed: 01/30/2023]
Affiliation(s)
- Pavithra Ayyanar
- Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Hemanta Kumar Nayak
- Department of Medical Gastroenterology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Subash Chandra Samal
- Department of Medical Gastroenterology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Madhabananda Kar
- Department of Surgical Oncology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Pritinanda Mishra
- Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Susama Patra
- Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
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13
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Mustafa T, Suarez Y, Damani T. Plexiform Angiomyxoid Myofibroblastic Tumor (PAMT) of the Stomach: an Extremely Rare Mesenchymal Tumor Masquerading as Gastrointestinal Stromal Tumor or Leiomyoma. J Gastrointest Surg 2021; 25:3265-3267. [PMID: 34240325 DOI: 10.1007/s11605-021-05069-z] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/03/2021] [Accepted: 06/08/2021] [Indexed: 01/31/2023]
Affiliation(s)
- Tahir Mustafa
- Department of Surgery, NYU Langone Health, New York, NY, USA
| | - Yvelisse Suarez
- Department of Pathology, NYU Langone Health, New York, NY, USA
| | - Tanuja Damani
- Department of Surgery, NYU Langone Health, New York, NY, USA.
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14
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Lin M, Song L, Qin S, Li D, Hou G, Li X. Plexiform fibromyxoma: Case report and literature review. Medicine (Baltimore) 2021; 100:e27164. [PMID: 34516510 PMCID: PMC8428745 DOI: 10.1097/md.0000000000027164] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/12/2020] [Accepted: 08/19/2021] [Indexed: 01/05/2023] Open
Abstract
Plexiform fibromyxoma (PF) is a rare mesenchymal neoplasm which can be misdiagnosed as the gastrointestinal stromal tumor. This tumor almost formed a lobulated intramural/submucosal mass in the gastric antrum and prepyloric area. It was considered as a benign tumor that exhibited no recurrence, metastasis, or tumor-related mortality. In this study, we reported 2 cases of gastric PF. The first case was a PF patient coexisting with gastric adenocarcinoma. The second case occurred in the gastric upper body close to gastric fundus. They underwent distal gastrectomy and laparoscopic partial gastric resection, respectively. Both of them exhibited a plexiform growth pattern in the submucosa, muscularis propria, and subserosal adipose tissues. The nodules were composed of abundant myxoid or fibromyxoid matrix riching in small thin-walled blood vessels and bland-looking spindle cells. The first case partially showed staggered growth pattern of PF and adenocarcinoma. Immunohistochemically, the spindle cells were diffusely immunoreactive for SMA and vimentin, and focally immunoreactive for CD10. It was important to distinguish the PF from other spindle cell tumors involving the stomach.
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Affiliation(s)
- Min Lin
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
| | - Lu Song
- Department of Breast Surgery, Tai’an City Central Hospital, Tai’an, China
| | - Shuming Qin
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
| | - Daosheng Li
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
| | - Gang Hou
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
| | - Xiaomei Li
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
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Wu JD, Chen YX, Luo C, Xu FH, Zhang L, Hou XH, Song J. Plexiform angiomyxoid myofibroblastic tumor treated by endoscopic submucosal dissection: A case report and review of the literature. World J Gastroenterol 2021; 27:5288-5296. [PMID: 34497451 PMCID: PMC8384752 DOI: 10.3748/wjg.v27.i31.5288] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/22/2021] [Revised: 06/08/2021] [Accepted: 07/26/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Plexiform angiomyxoid myofibroblastic tumor (PAMT) is a rare mesenchymal tumor characterized by multiple nodular plexiform growth patterns and an immunophenotype with myofibroblasts. The pathological characteristics, immunohistochemistry, diagnostic criteria, differential diagnosis, and gene-level changes of PAMT have been reported in many studies. At present, the main treatment for PAMT in the reported cases is surgery; only eight cases were treated via endoscopy (excluding 1 thoracoscopic resection), and the lesions were all smaller than 5 cm. There are no reports on the prognosis and follow-up of young patients with lesion sizes reaching 5 cm who undergo endoscopic submucosal dissection (ESD). Herein, we present the first case of a young patient with a lesion size reaching 5 cm who was diagnosed with PAMT via endoscopic submucosal dissection. CASE SUMMARY A 15-year-old young man with upper abdominal pain for 2 years presented to the Gastroenterology Department of our hospital. Painless gastroscopy showed a semicircular bulge approximately 5 cm in size in the lesser curvature near the cardia of the fundus; the surface was eroded, and shallow ulcers had formed. The pathological manifestations of the biopsy were spindle cell proliferative lesions with interstitial mucinous changes, and the surface mucosa showed chronic inflammatory changes with active lesions; immunohistochemistry showed smooth muscle actin (SMA) (+), CD117 (-), CD34 (-), DOG-1 (-), S-100 (-), and Ki67 (LI: < 1%). We performed ESD on the patient. The lesion that we removed was 5 cm × 4 cm × 2 cm in size. Pathologically, the resected tissue displayed typical manifestations, such as fat spindle-shaped fibroblasts and myofibroblast-like cells showing irregular nodular hyperplasia. Immunohistochemistry staining of the tumor cells revealed the following: CD34 (partially +), SMA (weakly +), CD117 (-), DOG-1 (-), S-100 (-), SDHB (+), PCK (-), and Ki67 (labelling index: 2%). There was no recurrence or metastasis during the 3-mo follow-up after the operation, and the treatment effect was good. We also performed a review of the literature on the clinical manifestations, pathological features, immunohistochemistry, and differential diagnosis of PAMT. CONCLUSION At present, the diagnostic criteria for PAMT are relatively clear, but the pathogenesis and genetic changes require further study. PAMT is benign in nature, and these patients are less likely to experience local or metastatic recurrence. The main treatment is still surgery if the lesion is in the stomach. Partial gastrectomy and distal gastrectomy are the most frequently performed surgical treatments for PAMT, followed by local resection, subtotal gastrectomy, and wedge resection. But for comprehensive evaluation of the disease, ESD can be considered a suitable method to avoid excessive treatment.
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Affiliation(s)
- Jian-Di Wu
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Yi-Xiong Chen
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Chang Luo
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Feng-Hua Xu
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Lei Zhang
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Xiao-Hua Hou
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Jun Song
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
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16
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Ma S, Wang J, Lu Z, Shi C, Yang D, Lin J. Plexiform fibromyxoma: a clinicopathological and immunohistochemical analysis of two cases with a literature review. J Int Med Res 2021; 49:3000605211027878. [PMID: 34369189 PMCID: PMC8358512 DOI: 10.1177/03000605211027878] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/14/2023] Open
Abstract
OBJECTIVE This article aimed to study the clinicopathological features, immunophenotypes, and differential diagnoses of plexiform fibromyxoma (PF). METHODS We searched clinical and pathology databases of our hospital for patients with histologically confirmed PF from 2007 to 2020 and reviewed the relevant English and Chinese language literature. RESULTS Two cases of PF were identified, a 67-year-old woman and a 23-year-old man. Both patients presented with melena and anemia and underwent partial gastrectomy. Histologically, the tumors exhibited a plexiform growth pattern in the gastric submucosa and the presence of bland-looking spindle cells in the fibromyxoid stroma with the formation of small blood vessels. Immunohistochemically, the two cases were strongly positive for vimentin, smooth muscle actin, and muscle-specific actin and negative for CD117, discovered on gastrointestinal stromal tumors protein 1, CD34, CD10, S100, desmin, H-caldesmon, estrogen receptor, progesterone receptor, β-catenin, and cytokeratin. CONCLUSIONS PF is a rare mesenchymal tumor of the stomach that can be distinguished from other gastrointestinal mesenchymal tumors based on its distinctive morphology and immunophenotype.
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Affiliation(s)
- Shaofei Ma
- Department of Pathology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Jing Wang
- Department of Ultrasonography, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Zhanjun Lu
- Department of Gastroenterology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Chaoying Shi
- Department of Pathology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Daohua Yang
- Department of Pathology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Jun Lin
- Department of Pathology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
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17
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Li Z, Jiang Q, Guo D, Peng Y, Zhang J, Chen X. Gastric Plexiform Fibromyxoma with Two Different Growth Patterns on Histological Images: a Case Report. J Gastric Cancer 2021; 21:213-219. [PMID: 34234982 PMCID: PMC8255301 DOI: 10.5230/jgc.2021.21.e17] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/28/2021] [Revised: 06/10/2021] [Accepted: 06/11/2021] [Indexed: 01/12/2023] Open
Abstract
Plexiform fibromyxoma (PF) of the stomach is a very rare mesenchymal tumor of the gastrointestinal tract. We report the first case of PF with 2 different growth patterns pathologically confirmed after surgical resection. The tumor was characterized microscopically as infiltrative; it demonstrated diffuse growth into the smooth muscle bundles of the muscularis propria and was also multinodular and plexiform within the myxoid stroma. Immunohistochemical analysis revealed that the tumor cells were positive or weakly positive for smooth muscle actin, vimentin, and H-caldesmon and negative for desmin, CD117, CD34, CK-20, Pan-CK, Dog1, S100, ER, PR, and CD10. No mutations of C-kit and platelet-derived growth factor receptor alpha were detected. No genetic disruption of glioma-associated oncogene homolog 1 was detected by fluorescence in situ hybridization. The final diagnosis of PF was mainly based on the morphological and immunohistochemical findings.
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Affiliation(s)
- Zhenyu Li
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Qingming Jiang
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Dongfang Guo
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Yangling Peng
- Department of Radiology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Jing Zhang
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Xinyu Chen
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
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18
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Sbaraglia M, Businello G, Bellan E, Fassan M, Dei Tos AP. Mesenchymal tumours of the gastrointestinal tract. Pathologica 2021; 113:230-251. [PMID: 34294940 PMCID: PMC8299319 DOI: 10.32074/1591-951x-309] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/29/2021] [Accepted: 06/29/2021] [Indexed: 02/06/2023] Open
Abstract
Mesenchymal tumours represent a heterogenous group of neoplasms encopassing benign, intermediate malignancy, and malignant entities. Sarcomas account for approximately 1% of human malignancies. In consideration of their rarity as well as of intrinsic complexity, diagnostic accuracy represents a major challenge. Traditionally, mesenchymal tumours are regarded as lesions the occurrence of which is mostly limited to somatic soft tissues. However, the occurrence of soft tissue tumours at visceral sites represent a well recognized event, and the GI-tract ranks among the most frequently involved visceral location. There exist entities such as gastrointestinal stromal tumours (GIST) and malignant gastointestinal neuroectodermal tumors that exhibit exquisite tropism for the GI-tract. This review will focus also on other relevant clinico-pathologic entities in which occurrence at visceral location is not at all negligible.
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Affiliation(s)
- Marta Sbaraglia
- Department of Pathology, Azienda Ospedale-Università Padova, Padua, Italy
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
| | - Gianluca Businello
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
| | - Elena Bellan
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
| | - Matteo Fassan
- Department of Pathology, Azienda Ospedale-Università Padova, Padua, Italy
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
| | - Angelo Paolo Dei Tos
- Department of Pathology, Azienda Ospedale-Università Padova, Padua, Italy
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
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19
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Arslan ME, Li H, Fu Z, Jennings TA, Lee H. Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis. World J Gastrointest Oncol 2021; 13:409-423. [PMID: 34040702 PMCID: PMC8131905 DOI: 10.4251/wjgo.v13.i5.409] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/19/2021] [Revised: 03/22/2021] [Accepted: 04/26/2021] [Indexed: 02/06/2023] Open
Abstract
Plexiform fibromyxoma (PF) is a very rare mesenchymal neoplasm of the stomach that was first described in 2007 and was officially recognized as a subtype of gastric mesenchymal neoplasm by World Health Organization (WHO) in 2010. Histologically, PF is characterized by a plexiform growth of bland spindle to ovoid cells embedded in a myxoid stroma that is rich in small vessels. The lesion is usually paucicellular. While mucosal and vascular invasion have been documented, no metastasis or malignant transformation has been reported. Its pathogenesis is largely unknown and defining molecular alterations are not currently available. There are other mesenchymal tumors arising in the gastrointestinal tract that need to be differentiated from PF given their differing biologic behaviors and malignant potential. Histologic mimics with spindle cells include gastrointestinal stromal tumor, smooth muscle tumor, and nerve sheath tumor. Histologic mimics with myxoid stroma include myxoma and aggressive angiomyxoma. Molecular alterations that have been described in a subset of PF may be seen in gastroblastoma and malignant epithelioid tumor with glioma-associated oncogene homologue 1 (GLI1) rearrangement. The recent increase in publications on PF reflects growing recognition of this entity with expansion of clinical and pathologic findings in these cases. Herein we provide a review of PF in comparison to other mesenchymal tumors with histologic and molecular resemblance to raise the awareness of this enigmatic neoplasm. Also, we highlight the challenges pathologists face when the sample is small, or such rare entity is encountered intraoperatively.
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Affiliation(s)
- Mustafa Erdem Arslan
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
| | - Hua Li
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
| | - Zhiyan Fu
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
| | - Timothy A Jennings
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
| | - Hwajeong Lee
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
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20
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Zhao X, Li X, Huang X, Shang L, Zhang J, Wu J. Gastric plexiform fibromyxoma resected by endoscopic submucosal dissection: A case report and review of literature. HUMAN PATHOLOGY: CASE REPORTS 2021. [DOI: 10.1016/j.ehpc.2020.200468] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022] Open
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21
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Papke DJ, Hornick JL. Recent developments in gastroesophageal mesenchymal tumours. Histopathology 2020; 78:171-186. [PMID: 33382494 DOI: 10.1111/his.14164] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/12/2020] [Revised: 05/26/2020] [Accepted: 05/27/2020] [Indexed: 12/19/2022]
Abstract
The pathologist's approach to gastroesophageal mesenchymal tumours has changed dramatically during the last 25 years. In particular, gastrointestinal stromal tumour (GIST) has evolved from a wastebasket mesenchymal tumour category to a precisely defined entity with an increasingly detailed genetic subclassification. This subclassification has brought gastrointestinal mesenchymal neoplasia into the realm of precision medicine, with specific treatments optimised for particular genetic subtypes. Molecular genetic data have also greatly improved our understanding of oesophageal mesenchymal tumours, including the discovery that so-called 'giant fibrovascular polyps' in fact represent a clinically distinctive presentation of well-differentiated liposarcoma. Here, we will focus on gastroesophageal mesenchymal tumours for which there have been recent developments in classification, molecular genetics or tumour biology: granular cell tumour, 'giant fibrovascular polyp'/well-differentiated liposarcoma, plexiform fibromyxoma, gastroblastoma and, of course, GIST.
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Affiliation(s)
- David J Papke
- Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA
| | - Jason L Hornick
- Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA
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22
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Pei JY, Tan B, Liu P, Cao GH, Wang ZS, Qu LL. Gastric plexiform fibromyxoma: A case report. World J Clin Cases 2020; 8:5639-5644. [PMID: 33344555 PMCID: PMC7716332 DOI: 10.12998/wjcc.v8.i22.5639] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/30/2020] [Revised: 06/16/2020] [Accepted: 09/11/2020] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Plexiform fibromyxoma (PF) is a rare mesenchymal tumor of the stomach. The clinical features of PF frequently include upper abdominal pain, abdominal discomfort, hematemesis, melena, pyloric obstruction and an upper abdominal mass. We herein report a case of PF resected by laparoscopic radical distal gastrectomy plus Roux-en-Y gastrojejunostomy.
CASE SUMMARY The patient was admitted to hospital, due to a 1-wk history of an abdominal space-occupying lesion identified during a health examination. He underwent complete resection by laparoscopic radical distal gastrectomy plus Roux-en-Y gastrojejunostomy. During the operation, the tumor was located in the anterior wall of the gastric antrum (approximately 7 cm × 6 cm × 5.5 cm) and did not show evidence of invasion of the serosa. Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells, with numerous thin-walled blood vessels and abundant myxoid stroma. Cellular atypia and mitosis were both rare. Immunohistochemistry showed that the tumor cells were immunoreactive for smooth muscle actin, S-100 and CD-10, but were negative for CD-117, CD-34, DOG-1, and ALK. In this case, S-100 was positive and no significant disease was observed during the follow-up period.
CONCLUSION The fact that PF is a rare tumor with only a few cases in this region can lead to misdiagnosis of this entity and pose a real diagnostic challenge for general surgeons and pathologists when encountering such patients and differentiating PF from other primary tumors of gastric mesenchymal origin. Our report may help increase awareness of this rare, but important new disease entity.
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Affiliation(s)
- Jin-Yu Pei
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
- Medical College, Qingdao University, Qingdao 266071, Shandong Province, China
| | - Bin Tan
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
| | - Peng Liu
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
- Medical College, Qingdao University, Qingdao 266071, Shandong Province, China
| | - Guang-Hua Cao
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
- Medical College, Qingdao University, Qingdao 266071, Shandong Province, China
| | - Zu-Sen Wang
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
| | - Lin-Lin Qu
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
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23
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Gastric Plexiform Fibromyxoma Arising in the Cardia in an Adolescent Male: A Rare Tumor with an Unusual Location. Case Rep Surg 2020; 2020:9037960. [PMID: 33489405 PMCID: PMC7803177 DOI: 10.1155/2020/9037960] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/06/2019] [Revised: 10/17/2020] [Accepted: 10/26/2020] [Indexed: 02/07/2023] Open
Abstract
Plexiform fibromyxoma of the stomach, also known as plexiform angiomyxoid myofibroblastic tumor, is a rare benign gastric mesenchymal tumor, first described in 2007, which usually arises in the gastric antrum and affects adults. Few cases have been reported in children and adolescents. It can present with different clinical manifestations including abdominal pain, dyspepsia, hematemesis, and vomiting. Preoperatively, this tumor is usually diagnosed as gastrointestinal stromal tumor (GIST), and the correct diagnosis is made only after histopathological examination following surgical resection. Most cases were reported from East Asia (China, Japan, and Korea), North America, and Europe. We report herein a unique case of plexiform fibromyxoma, the first to be reported from the Middle East, arising in the cardia of the stomach in a 16-year-old adolescent male, with a brief review of the literature.
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24
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Frequency of Plexiform Fibromyxoma relative to gastrointestinal stromal tumor: A single center study. Ann Diagn Pathol 2020; 48:151568. [PMID: 32717659 DOI: 10.1016/j.anndiagpath.2020.151568] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/30/2020] [Revised: 04/29/2020] [Accepted: 05/04/2020] [Indexed: 02/08/2023]
Abstract
Plexiform Fibromyxoma (PF) is an exceedingly rare mesenchymal tumor of the gastric antrum that was first described in 2007. PF is a close mimic of gastrointestinal stromal tumor (GIST) clinically and histopathologically, but the frequency of PF relative to GIST is unknown. Moreover, although likely benign, long-term follow-up of PF is limited due to its recent description and rarity. PF has not been reported in distal jejunum. 118 primary GISTs that were surgically resected at our center (2000-2019) were retrieved. The patients' age, gender, clinical presentation, tumor location, size and number, and the presence or absence of metastasis, were documented. Risk of progressive disease was assessed according to the published GIST risk stratification model. Two unique cases of PF were compared. One gastric PF has been followed-up for 8 years, and the other occurred in the distal jejunum. In the latter, the PF diagnosis was rendered after the case was re-reviewed for the study. Clinical presentation resembled GIST in both PF cases. 14% of GISTs showed high risk features or were clinically malignant, whereas the PF patient with 8-year follow-up was free of disease. Based on this study, PF may be under-recognized, with 1 to 2% (1.7%) of GIST-like tumors possibly representing PF. PF may involve variable segments of intestine similar to GIST. Given the remarkable clinical and histopathologic overlap with GIST but differing outcomes, awareness and cognizance of this rare entity, plexiform fibromyxoma, is required for proper patient care.
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Abstract
The Glioma-associated homologue-1 (GLI-1) gene was first discovered to be amplified in glioblastoma multiforme. It encodes for a zinc-finger transcription factor in the Kruppel family of proteins and is important in the sonic hedgehog signalling pathway. GLI-1 also plays a role in several other pathways and is important for proliferation, migration, invasion, growth and angioinvasion, and cancer stem cell self-renewal in a variety of malignancies. GLI-1 is amplified in several malignancies, including an epithelioid, pericytomatous soft tissue neoplasm that can exhibit malignant behaviour. More recently, GLI-1 fusions with other partner genes have been found in three rare tumours: a pericytomatous tumour with a t(7;12) translocation, where it partners with Actin beta 1, and gastroblastoma and plexiform fibromyxoma, where the partner gene is metastasis-associated lung adenocarcinoma transcript 1, respectively.
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Affiliation(s)
- Runjan Chetty
- Department of Pathology, University Health Network Laboratory Medicine Program, University of Toronto, Toronto, Ontario, Canada
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27
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Gan Y, Hammoud G, Esebua M. A rare case of plexiform fibromyxoma in stomach: FNA diagnosis with histological correlation and differential diagnoses. Ann Diagn Pathol 2019; 44:151453. [PMID: 31864161 DOI: 10.1016/j.anndiagpath.2019.151453] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/31/2019] [Accepted: 11/08/2019] [Indexed: 12/13/2022]
Abstract
Plexiform angiomyxoma (PF) is a rare benign mesenchymal neoplasm that arises in the antrum and pyloric region of the stomach. To the best of our knowledge, there are only two prior endoscopic ultrasound guided fine needle aspiration cytology examples have been reported. We report a case of PF which was diagnosed via EUS FNA and later confirmed on resection specimen. Differential diagnoses of this tumor are discussed. Although diagnosis of plexiform fibromyxoma on FNA specimen is difficult, a good FNA specimen with subsequent careful morphological evaluation and immunohistochemical staining work-up makes this task possible.
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Affiliation(s)
- Yujun Gan
- Department of Pathology, University of Missouri, United States of America.
| | - Ghassan Hammoud
- Department of Medicine-Gastroenterology, University Missouri, United States of America
| | - Magda Esebua
- Department of Pathology, University of Missouri, United States of America
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28
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Kobori I, Katayama Y, Hayashi K, Fujimoto Y, Kaneko M, Kitahama A, Kitagawa T, Imada H, Ban S, Tamano M. Uninodular Fibromyxomatous Gastric Tumor Resected by Endoscopic Submucosal Dissection. Intern Med 2019; 58:2015-2018. [PMID: 30918189 PMCID: PMC6702017 DOI: 10.2169/internalmedicine.2370-18] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/11/2022] Open
Abstract
Esophagogastroduodenoscopy of a 45-year-old woman revealed a submucosal tumor in the gastric antrum. Endoscopic submucosal dissection of the tumor was performed. The histological findings revealed a fibromyxomatous tumor composed of myofibroblastic cells with no evidence of malignancy. The growth pattern of the resected specimen was not multinodular or plexiform. We therefore tentatively referred to the present tumor descriptively as a gastric uninodular fibromyxomatous tumor, stressing its singular nodularity. It was initially roughly 10 mm in size but grew over a period of 4 years. A uninodular plexiform fibromyxoma might increase in size but might not become multinodular if it remains small.
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Affiliation(s)
- Ikuhiro Kobori
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Yasumi Katayama
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
- Endoscopy Center, Dokkyo Medical University Saitama Medical Center, Japan
| | - Kazunori Hayashi
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Yo Fujimoto
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Mayuko Kaneko
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Akihiro Kitahama
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Tomoyuki Kitagawa
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Hiroki Imada
- Department of Pathology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Shinichi Ban
- Department of Pathology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Masaya Tamano
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
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Su HA, Yen HH, Chen CJ. An Update on Clinicopathological and Molecular Features of Plexiform Fibromyxoma. Can J Gastroenterol Hepatol 2019; 2019:3960920. [PMID: 31360694 PMCID: PMC6642755 DOI: 10.1155/2019/3960920] [Citation(s) in RCA: 19] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/29/2019] [Accepted: 06/16/2019] [Indexed: 01/30/2023] Open
Abstract
Plexiform fibromyxoma is a rare and newly described gastric mesenchymal tumor with only 121 reported cases in the literature. Our understanding of plexiform fibromyxoma requires updating since the first case has been reported by Takahashi et al. 12 years ago. The present review summarized reported cases in the literature, and both clinical and pathological aspects of plexiform fibromyxoma were comprehensively discussed. Plexiform fibromyxoma usually causes nonspecific or bleeding signs or symptoms, and therefore clinical recognition of the disease is challenging. Plexiform fibromyxoma is of benign nature without any metastasis or recurrence reported, and more conservative surgical treatment should be considered.
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Affiliation(s)
- Hsuan-An Su
- Department of Medical Education, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan
| | - Hsu-Heng Yen
- Endoscopy Center, Changhua Christian Hospital, Changhua, Taiwan
- School of Medicine, Chung Shan Medical University, Taichung, Taiwan
| | - Chih-Jung Chen
- School of Medicine, Chung Shan Medical University, Taichung, Taiwan
- Department of Surgical Pathology, Changhua Christian Hospital, Changhua, Taiwan
- Department of Pathology and Laboratory Medicine, Taichung Veterans General Hospital, Taiwan
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Lai J, Kresak JL, Cao D, Zhang D, Zhang S, Leon ME, Shenoy A, Liu W, Trevino J, Starostik P, Gonzalo DH, Wang H, Liu X, Fan X. Gastric Plexiform Fibromyxoma: A Great Mimic of Gastrointestinal Stromal Tumor (GIST) and Diagnostic Pitfalls. J Surg Res 2019; 239:76-82. [PMID: 30822694 DOI: 10.1016/j.jss.2019.01.062] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/24/2018] [Revised: 01/10/2019] [Accepted: 01/25/2019] [Indexed: 02/05/2023]
Abstract
Through a multicenter study, we collected seven cases of gastric plexiform fibromyxoma including four females and three males, 21 to 79 y old (46.1 ± 10.1). All cases showed a unilocular lesion measuring 0.3 to 17 cm (5.3 ± 2.4), arising from antrum (5/7) or body (2/7). Six of the seven cases had intraoperative frozen sections and/or endoscopic ultrasound fine needle aspiration (EUS-FNA), and all of them were preoperatively or intraoperatively diagnosed as gastrointestinal stromal tumor (GIST). EUS-FNA material showed markedly elongated spindle cells with streaming oval to elongated nuclei with rounded ends. Histologically, the tumors exhibited a plexiform growth pattern and were composed of a rich myxoid stroma and cytologically bland uniform spindle cells without mitotic figures, with the exception of one case which displayed nuclear pleomorphism and increased mitosis. Immunostains showed the tumor cells to be focally positive for SMA (6/6), focally and weakly positive for desmin (3/6) and caldesmon (2/3), negative for CD117 (0/7), CD34 (0/7), DOG1 (0/4), and S100 (0/5). No mutations were identified on Next-Generation Sequencing test, and no loss of SDHB immunoreactivity was identified in the tumor with nuclear pleomorphism. One case was treated with Gleevec because of the initial diagnosis of GIST. All patients had a follow-up for up to 11 y, with no tumor recurrence or metastasis reported. Our results suggest that gastric plexiform fibromyxoma is rare and may be underrecognized and misinterpreted as GIST during intraoperative frozen section or preoperative EUS-FNA diagnosis without immunostains leading to inappropriate treatment.
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Affiliation(s)
- Jinping Lai
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California.
| | - Jesse L Kresak
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Dengfeng Cao
- Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, Missouri
| | - Dongwei Zhang
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Sharon Zhang
- Department of Pathology and Laboratory Medicine, University of California in Los Angeles (UCLA), California
| | - Marino E Leon
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Archana Shenoy
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, Missouri
| | - Weidong Liu
- Department of Surgery, Xiangya Hospital, XiangYa School of Medicine, Central South University, Changsha, China
| | - Jose Trevino
- Department of Surgery, University of Florida College of Medicine, Gainesville, Florida
| | - Petr Starostik
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - David Hernandez Gonzalo
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Hanlin Wang
- Department of Pathology and Laboratory Medicine, University of California in Los Angeles (UCLA), California
| | - Xiuli Liu
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Xuemo Fan
- Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California
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Li J, Gao H, Lv M, Ma Y, Wang M. Gastric plexiform fibromyxoma: A rare case in a 5-year-old male. Pediatr Blood Cancer 2019; 66:e27638. [PMID: 30697921 DOI: 10.1002/pbc.27638] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/09/2018] [Revised: 01/06/2019] [Accepted: 01/13/2019] [Indexed: 01/24/2023]
Affiliation(s)
- Jiwei Li
- Department of Pathology, Kunming Children's Hospital, Kunming, China
| | - Hongqiang Gao
- Department of Hepatobiliary Surgery, The Affiliated Calmette Hospital of Kunming Medical University, Kunming, China
| | - Mengxing Lv
- Department of Pathology, Kunming Children's Hospital, Kunming, China
| | - Yangyang Ma
- Department of Pathology, Children's Hospital of Fudan University, Shanghai, China
| | - Meifen Wang
- Department of Gastroenterology, Kunming Children's Hospital, Kunming, China
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A Distinct Malignant Epithelioid Neoplasm With GLI1 Gene Rearrangements, Frequent S100 Protein Expression, and Metastatic Potential: Expanding the Spectrum of Pathologic Entities With ACTB/MALAT1/PTCH1-GLI1 Fusions. Am J Surg Pathol 2019; 42:553-560. [PMID: 29309307 DOI: 10.1097/pas.0000000000001010] [Citation(s) in RCA: 123] [Impact Index Per Article: 20.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]
Abstract
ACTB-GLI1 fusions have been reported as the pathognomonic genetic abnormality defining an unusual subset of actin-positive, perivascular myoid tumors, known as "pericytoma with the t(7;12) translocation." In addition, GLI1 oncogenic activation through a related MALAT1-GLI1 gene fusion has been recently reported in 2 unrelated gastric tumors, namely plexiform fibromyxoma and gastroblastoma. Triggered by unexpected targeted RNA-sequencing results detecting GLI1-related fusions in a group of malignant neoplasms with round to epithelioid morphology, and frequently strong S100 protein immunoreactivity, we investigated their clinicopathologic features in relation to other known pathologic entities sharing similar genetics. On the basis of a combined approach of targeted RNA sequencing and fluorescence in situ hybridization screening, we identified 6 cases with GLI1 gene fusions, including 4 fused to ACTB, 1 with MALAT1 and 1 with PTCH1 gene. Patients had a mean age of 36 years at diagnosis (range, 16 to 79 y) and slight female predilection all except 1 tumor originated in the soft tissue. Microscopically, the tumors had a monomorphic epithelioid phenotype arranged in a distinctive nested or cord-like architecture, separated by thin septae and delicate capillary network. All except 2 cases were strongly positive for S100 protein, whereas being negative for SOX10, SMA, and EMA. Only 1 tumor showed focal cytokeratin positivity in rare cells. Although the tumors showed some resemblance to pericytic/glomus tumors or myoepithelial tumors, the immunoprofile was not supportive of either lineage. Moreover, in contrast to the benign course of so-called pericytoma with t(7;12), 3 patients in this series developed metastatic disease to either lymph nodes or lung. In fact the only patient with lung metastases showed a novel PTCH1-GLI1 gene fusion. It remains to be determined whether these tumors represent a clinically and immunohistologically distinct subset of pericytoma, or an altogether novel soft tissue sarcoma. Our findings open new opportunities for targeted therapy, as tumors with GLI1 oncogenic activation, and subsequent PTCH1 overexpression, might be sensitive to sonic hedgehog pathway inhibitors.
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Fukazawa M, Koga H, Hiroshige S, Matsumoto T, Nakazono Y, Yoshikawa Y. Pediatric plexiform fibromyxoma: A PRISMA-compliant systematic literature review. Medicine (Baltimore) 2019; 98:e14186. [PMID: 30653169 PMCID: PMC6370170 DOI: 10.1097/md.0000000000014186] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/22/2018] [Revised: 11/12/2018] [Accepted: 12/26/2018] [Indexed: 12/15/2022] Open
Abstract
BACKGROUND Plexiform fibromyxoma (PF) is a rare gastric mesenchymal tumor, with approximately 80 cases reported to date. Gastrointestinal stromal tumor, the most common primary mesenchymal tumor of the stomach, shows different biological and clinical characteristics between adult and pediatric patients. OBJECTIVES This systematic literature review was conducted to elucidate the pathological and clinical features of pediatric PF compared to adult PF. METHODS MEDLINE (1948 to March 2018) and EMBASE (1947 to March 2018) were searched, and all English articles that reported clinical data on PF patients were identified. Two authors independently reviewed the articles and extracted data to assess immunohistochemistry, sex, chief complaint, tumor size, tumor-related mortality, and tumor recurrence and metastasis. RESULTS A total of 41 reports with 80 PF patients (of whom 70 were adult PF and 10 were pediatric PF patients) confirmed by histological and immunohistochemical findings were included. Of a total of 80 tumors, 62 (78%) were located in the gastric antrum, 42 (65%) presented with ulceration, and 48 (74%) were resected by partial gastrectomy. Median tumor size of the resected specimen was larger in pediatric PF than in adult PF cases (5.3 cm vs 4.0 cm, P = .036). However, there was no difference between pediatric and adult PFs in immunohistochemical expression, sex predominance, chief complaint, tumor-related mortality, and tumor recurrence and metastasis during the follow-up periods. CONCLUSION Other than increased tumor growth in pediatric PFs, PF is a single disease entity with similar pathological features and benign clinical behavior regardless of onset age.
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Affiliation(s)
| | | | | | | | - Yuichi Nakazono
- Department of Pathology, National Hospital Organization Beppu Medical Center, 1473 Oaza-Uchikamado, Beppu, Oita, Japan
| | - Yasuji Yoshikawa
- Department of Pathology, National Hospital Organization Beppu Medical Center, 1473 Oaza-Uchikamado, Beppu, Oita, Japan
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Zhang WG, Xu LB, Xiang YN, Duan CH. Plexiform fibromyxoma of the small bowel: A case report. World J Clin Cases 2018; 6:1067-1072. [PMID: 30568965 PMCID: PMC6288503 DOI: 10.12998/wjcc.v6.i15.1067] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/10/2018] [Revised: 11/05/2018] [Accepted: 11/07/2018] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Plexiform fibromyxoma is a rare, special type of mesenchymal tumor. The most common presenting symptoms are anemia, hematemesis, and hematochezia, without sex or age predilection. The reported cases have mainly occurred in the gastric antrum and pylorus region, with some cases in the duodenum.
CASE SUMMARY We report here a case of plexiform fibromyxoma in the upper segment of the jejunum, which was continuously followed up for 3 years after surgical removal. Plexiform fibromyxoma showed multinodular or plexiform growth. The cells in the tumor node were spindle-shaped but few in number and mitotic figures. Small blood vessels and mucous matrix were found among the tumor cells. Immunohistochemistry revealed that the plexiform fibromyxoma cells were positive for smooth muscle actin, focally positive for CD10, and negative for cytokeratin, CD117, DOG-1 (discovered on GIST-1) desmin, S-100, epithelial membrane antigen, and CD34. Ki-67 labeling index was < 5%. Plexiform fibromyxoma showed benign biological behavior. After 3 years of consecutive postoperative follow-up, no obvious signs of metastasis or recurrence were found by imaging examination.
CONCLUSION Plexiform fibromyxoma is a rare type of mesenchymal tumor. The diagnosis mainly depends on pathological examination, and it should be distinguished from other gastrointestinal mesenchymal tumors.
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Affiliation(s)
- Wei-Guang Zhang
- Department of Endoscopy, the Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China
| | - Liang-Bi Xu
- Department of Endoscopy, the Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China
| | - Yi-Ning Xiang
- Department of Pathology, the Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China
| | - Chen-Hong Duan
- Department of Endoscopy, the Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China
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Li X, Li S, Xiong S, Wang Z, Zhang H. A rare case of plexiform angiomyxoid myofibroblastic tumor in the stomach which was diagnosed at the earliest stage in the literature. Gastroenterol Rep (Oxf) 2018; 6:313-316. [PMID: 27940603 PMCID: PMC6225817 DOI: 10.1093/gastro/gow035] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/21/2016] [Accepted: 09/23/2016] [Indexed: 02/05/2023] Open
Abstract
Plexiform angiomyxoid myofibroblastic tumor (PAMT) is a rare gastric mesenchymal entity with a peculiar plexiform pattern, bland spindle cells and myxoid stroma rich in arborizing blood vessels. Here we report a 44-year-old Chinese woman with PAMT. Initially she was admitted for removal of a gastric antral'polyp' found on a routine examination 5 months previously. Our gastroscopy showed a 0.8 × 0.8 cm polyp-like mass in the antrum which protruded into the lumen. Endoscopic submucosal dissection (ESD) was performed to remove this mass en bloc. The specimen was carefully examined by pathologists, and the correct diagnosis of PAMT was finally made. The tumor in this case depicted typical histopathological and immunohistochemical features of gastric PAMT. This PAMT was not only the smallest on endoscopic examination in the literature but also-unlike the already reported PAMTs-exhibited a focal hyperechogenic lesion on endoscopic ultrasonography (EUS). This information highlights its value on how to identify a PAMT at its early stage.
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Affiliation(s)
- Xi Li
- Department of General Practice, West China Hospital of Sichuan University, Chengdu, Sichuan, China
| | - Shuangqing Li
- Department of General Practice, West China Hospital of Sichuan University, Chengdu, Sichuan, China
| | - Shenghua Xiong
- Department of Pathology, West China Hospital of Sichuan University, Chengdu, Sichuan, China
| | - Zhujun Wang
- Department of Gastroenterology, West China Hospital of Sichuan University, Chengdu, Sichuan, China
| | - Hu Zhang
- Department of Gastroenterology, West China Hospital of Sichuan University, Chengdu, Sichuan, China
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36
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Jang KY, Park HS, Kim KM, Lee H, Kim CY. Plexiform fibromyxoma of the stomach: Fine needle aspiration cytology and histological correlation. Cytopathology 2018; 30:241-244. [DOI: 10.1111/cyt.12624] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/19/2018] [Accepted: 07/15/2018] [Indexed: 12/19/2022]
Affiliation(s)
- Kyu Yun Jang
- Department of Pathology Chonbuk National University Medical School Jeonju Korea
- Research Institute of Clinical Medicine of Chonbuk National University‐Biomedical Research Institute of Chonbuk National University Hospital Jeonju Korea
- Research Institute for Endocrine Sciences Chonbuk National University Jeonju Korea
| | - Ho Sung Park
- Department of Pathology Chonbuk National University Medical School Jeonju Korea
- Research Institute of Clinical Medicine of Chonbuk National University‐Biomedical Research Institute of Chonbuk National University Hospital Jeonju Korea
- Research Institute for Endocrine Sciences Chonbuk National University Jeonju Korea
| | - Kyoung Min Kim
- Department of Pathology Chonbuk National University Medical School Jeonju Korea
- Research Institute of Clinical Medicine of Chonbuk National University‐Biomedical Research Institute of Chonbuk National University Hospital Jeonju Korea
- Research Institute for Endocrine Sciences Chonbuk National University Jeonju Korea
| | - Ho Lee
- Department of Forensic Medicine Chonbuk National University Medical School Jeonju Korea
| | - Chan Young Kim
- Research Institute of Clinical Medicine of Chonbuk National University‐Biomedical Research Institute of Chonbuk National University Hospital Jeonju Korea
- Department of Surgery Chonbuk National University Medical School Jeonju Korea
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Abszess ungewöhnlicher Genese im Oberbauch eines Jugendlichen. Chirurg 2018; 89:726-729. [DOI: 10.1007/s00104-018-0638-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
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Rohit M, Bhatt A, Cruise M, Wearsch PA, Goldblum JR, Sturgis CD. Endoscopic ultrasound FNA: An illustrated review of spindle cell neoplasms of the upper gastrointestinal tract including a novel case of gastric plexiform fibromyxoma. Diagn Cytopathol 2018; 46:730-738. [PMID: 30043412 DOI: 10.1002/dc.24040] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/08/2018] [Revised: 06/27/2018] [Accepted: 07/05/2018] [Indexed: 02/06/2023]
Abstract
Plexiform fibromyxoma (PF) is a recently-described and rare mesenchymal neoplasm of the gastric wall. A few small case series reports of this spindle cell entity exist in the surgical pathology literature, but to our knowledge no prior endoscopic ultrasound guided fine needle aspiration cytology examples have been reported. In clinical practice, mural gastrointestinal (GI) lesions are often initially evaluated by endoscopic ultrasound guided (EUS) fine needle aspiration (FNA). In addition, newer EUS fine needle biopsy techniques also allow for reliable retrieval of core tissue samples with intact cellular architecture, making EUS histopathologic analyses possible. We report a combined EUS FNA and core biopsy case of PF and correlate the findings with imaging results. The cytomorphology of PF is described and illustrated, and important entities in the differential diagnosis of upper GI spindle cell lesions (including GI stromal tumor, leiomyoma, schwannoma, carcinoid tumor, desmoid-type fibromatosis, and inflammatory fibroid polyp) are reviewed. Illustrated examples of relevant cytomorphologic, cell block histomorphologic and immunohistochemical characteristics are emphasized.
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Affiliation(s)
- Maitreyi Rohit
- Department of Pathology, Case Western Reserve University, Cleveland, Ohio
| | - Amit Bhatt
- Department of Gastrointestinal Medicine, Cleveland Clinic, Cleveland, Ohio
| | - Michael Cruise
- Department of Pathology, Cleveland Clinic, Cleveland, Ohio
| | - Pamela A Wearsch
- Department of Pathology, Case Western Reserve University, Cleveland, Ohio
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Yang MX, Zhao ZH, Yang JF, Chen B, Shen XZ, Wei JG, Wang BY. Imaging findings of gastric plexiform fibromyxoma with a cystic change: A case report and review of literature. Medicine (Baltimore) 2017; 96:e8967. [PMID: 29384895 PMCID: PMC6392900 DOI: 10.1097/md.0000000000008967] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/03/2023] Open
Abstract
RATIONALE Plexiform fibromyxoma (PF) is an extremely rare mesenchymal tumor of the stomach, and its radiological findings have not been well described. Here, we analyzed the imaging features of a case of PF. To our knowledge, this is a rare reported case with a remarkable cystic change in the imaging literature. PATIENT CONCERNS A previously healthy 50-year-old woman presented with a 1-day history of abdominal pain. Then, she underwent computed tomography (CT) and magnetic resonance imaging (MRI). A cystic-solid well-circumscribed extraluminal mass was located in the posterior wall of the gastric upper body. The solid portion appeared as heterogeneous attenuation/intensity with progressive enhancement while the cystic region had no enhancement. DIAGNOSES The potential for malignancy could not be excluded. INTERVENTIONS Laparoscopic partial gastric resection was performed. OUTCOMES Based on pathological findings, a diagnosis of PF was made. The patient was alive without any recurrence or metastasis of the tumor after 2 years of follow-up. LESSONS As far as we know, a gastric PF with a remarkable cystic change has never been reported. Additionally, the tumor exhibited a progressive enhancement pattern which is a characteristic radiographic feature in our case. Our report may help increase the awareness of this rare but important new disease entity.
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Affiliation(s)
| | | | | | | | | | - Jian-Guo Wei
- Department of Pathology, Shaoxing People's Hospital, Shaoxing Hospital of Zhejiang University, Shaoxing, Zhejiang Province, China
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Wambura C, Surani S. Plexiform Fibromyxoma: A Rare Gastric Tumor. Case Rep Gastrointest Med 2017; 2017:4014565. [PMID: 29318062 PMCID: PMC5727638 DOI: 10.1155/2017/4014565] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/27/2017] [Accepted: 11/01/2017] [Indexed: 02/05/2023] Open
Abstract
Plexiform fibromyxoma is a rare and distinctive benign mesenchymal neoplasm that occurs in the gastric antrum. This tumor has a potential for misdiagnosis as gastrointestinal stromal tumor (GIST). It causes mucosa and vascular ulcerations without advancement of the tumor. Cytological bland spindle cells within a variably myxoid stroma characterize the histology of the tumor. We report the case of a 41-year-old African Tanzanian lady who presented with melena and recurrent anemia. Endoscopy and imaging studies revealed antral mass with initial suspicion of a GIST. However, immunohistochemically it turned to be a plexiform fibromyxoma. Follow-up evaluation 12 months after surgery revealed no evidence of recurrence or metastasis. This is a very uncommon tumor, which, to our knowledge, has been reported only once in Africa. The clinicians need to be aware of this rare occurrence to avoid misdiagnosis as GIST tumor.
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Szurian K, Till H, Amerstorfer E, Hinteregger N, Mischinger HJ, Liegl-Atzwanger B, Brcic I. Rarity among benign gastric tumors: Plexiform fibromyxoma - Report of two cases. World J Gastroenterol 2017; 23:5817-5822. [PMID: 28883708 PMCID: PMC5569297 DOI: 10.3748/wjg.v23.i31.5817] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/10/2017] [Revised: 04/03/2017] [Accepted: 05/04/2017] [Indexed: 02/06/2023] Open
Abstract
Plexiform fibromyxoma is a very rare mesenchymal tumor of the stomach, found almost exclusively in the antrum/pylorus region. The most common presenting symptoms are anemia, hematemesis, nausea and unintentional weight loss, without sex or age predilection. We describe here two cases of plexiform fibromyxoma, involving a 16-year-old female and a 34-year-old male. Both patients underwent complete resection (R0) by distal gastrectomy and retrocolic gastrojejunostomy (according to Billroth 2); for both, the postoperative course was uneventful. Histology showed multiple intramural and subserosal nodules with characteristic plexiform growth, featuring bland spindle cells situated in an abundant myxoid stroma with low mitotic activity. Immunohistochemistry showed α-smooth muscle actin-positive spindle cells, focal positivity for CD10, and negative staining for KIT, DOG1, CD34, S100, β-catenin, STAT-6 and anaplastic lymphoma kinase. One of the cases showed focal positivity for h-caldesmon and desmin. Upon follow-up, no sign of disease was found. In the differential diagnosis of plexiform fibromyxoma, it is important to exclude the more common gastrointestinal stromal tumors as they have greater potential for aggressive behavior. Other lesions, like neuronal and vascular tumors, inflammatory fibroid polyps, abdominal desmoid-type fibromatosis, solitary fibrous tumors and smooth muscle tumors, must also be excluded.
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Affiliation(s)
- Kinga Szurian
- Institute of Pathology, Medical University of Graz, 8036 Graz, Austria
| | - Holger Till
- Department of Paediatric and Adolescent Surgery, Medical University of Graz, 8036 Graz, Austria
| | - Eva Amerstorfer
- Department of Paediatric and Adolescent Surgery, Medical University of Graz, 8036 Graz, Austria
| | - Nicole Hinteregger
- Department of Radiology, Division of Neuroradiology, Vascular and Interventional Radiology, Medical University of Graz, 8036 Graz, Austria
| | | | | | - Iva Brcic
- Institute of Pathology, Medical University of Graz, 8036 Graz, Austria
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Kim SM, An JY, Choi MG, Lee JH, Sohn TS, Kim KM, Kim S, Bae JM. Plexiform Angiomyxoid Myofibroblastic Tumor of the Stomach: a Rare Case. J Gastric Cancer 2017; 17:277-281. [PMID: 28970958 PMCID: PMC5620097 DOI: 10.5230/jgc.2017.17.e22] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/26/2017] [Revised: 07/08/2017] [Accepted: 07/08/2017] [Indexed: 12/11/2022] Open
Abstract
Plexiform angiomyxoid myofibroblastic tumor (PAMT) of the stomach is a very rare mesenchymal tumor of the gastrointestinal tract. We report a case of asymptomatic gastric PAMT that was pathologically confirmed after surgical resection. The tumor had a multinodular plexiform growth pattern, bland-looking spindle cells, and an Alcian blue-positive myxoid stromal matrix rich in small blood vessels. Immunohistochemistry analysis revealed that the tumor cells of the PAMT were positive for smooth muscle actin (SMA) and negative for c-kit, CD34, S-100 protein, epithelial membrane antigen (EMA), and desmin. PAMT should be differentiated from other submucosal tumors of the stomach by immunohistochemical findings. Considering the benign features of this tumor, observation without resection may be an option for the treatment of PAMT if the tumor is asymptomatic.
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Affiliation(s)
- Su Mi Kim
- Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Ji Yeong An
- Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Min-Gew Choi
- Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Jun Ho Lee
- Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Tae Sung Sohn
- Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Kyung-Mee Kim
- Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Sung Kim
- Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
| | - Jae Moon Bae
- Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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Kawara F, Tanaka S, Yamasaki T, Morita Y, Ohara Y, Okabe Y, Hoshi N, Toyonaga T, Umegaki E, Yokozaki H, Hirose T, Azuma T. Gastric plexiform fibromyxoma resected by endoscopic submucosal dissection after observation of chronological changes: A case report. World J Gastrointest Oncol 2017; 9:263-267. [PMID: 28656077 PMCID: PMC5472557 DOI: 10.4251/wjgo.v9.i6.263] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/23/2016] [Revised: 03/22/2017] [Accepted: 05/05/2017] [Indexed: 02/05/2023] Open
Abstract
A 66-year-old man was diagnosed with a gastric submucosal tumor. Endoscopic ultrasound (EUS) revealed an iso/hypoechoic mass in the third layer. No malignant cells were detected in a histological examination. Yearly follow-up endoscopy and EUS showed the slow growth of the tumor. Endoscopic submucosal dissection (ESD) was performed and a glistening tumor was resected. The lesion showed a multinodular plexiform growth pattern consisting of spindle cells with an abundant fibromyxoid stroma that was rich in small vessels. The tumor was diagnosed as plexiform fibromyxoma (PF) by immunohistochemistry. Although difficulties are associated with reaching a diagnosis preoperatively, chronological changes on EUS may contribute to the diagnosis of PF. ESD may also be useful in the diagnosis and treatment of PF.
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Gonzalez-Cordero PL, Vara-Brenes D, Pecero-Hormigo MDC, Mateos-Rodríguez JM, Molina-Infante J, Martínez Mateo YA, Fernández-Bermejo M. Plexiform fibromyxoma, a rare mesenchymal gastric tumor. GASTROENTEROLOGIA Y HEPATOLOGIA 2017; 41:166-167. [PMID: 28431756 DOI: 10.1016/j.gastrohep.2017.03.003] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/29/2016] [Revised: 02/02/2017] [Accepted: 03/02/2017] [Indexed: 11/25/2022]
Affiliation(s)
| | - Daniel Vara-Brenes
- Department of Gastroenterology, Hospital San Pedro de Alcantara, Caceres, Spain
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Akai H, Kiryu S, Shinozaki M, Ohta Y, Nakano Y, Yasaka K, Ohtomo K. Computed tomography and magnetic resonance imaging of a plexiform angiomyxoid myofibroblastic tumor: a case report. BMC Med Imaging 2017; 17:7. [PMID: 28103839 PMCID: PMC5244533 DOI: 10.1186/s12880-017-0180-1] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/22/2016] [Accepted: 01/12/2017] [Indexed: 02/08/2023] Open
Abstract
Background Plexiform angiomyxoid myofibroblastic tumor (PAMT) is a very rare mesenchymal tumor of the stomach. Here we report a case of pathologically confirmed PAMT with an unique cyst formation. Case presentation A 55-year-old male with a 10-year history of a gastric subepithelial tumor underwent computed tomography (CT) and magnetic resonance imaging (MRI). Two cysts were observed in the tumor, and the cyst wall showed moderately high intensity on T2-weighted images compared with the gastric wall. On dynamic study, the cyst wall showed a gradual enhancement pattern, and prominent enhancement was observed in the delayed phase. Laparoscopic partial gastric resection was performed, and a pathological diagnosis of PAMT was rendered. Conclusion We present a rare case of gastric PAMT, which was uniquely presented as cysts. One of the cysts in the tumor had an epithelial wall lining, which had never been reported before in gastric mesenchymal tumor, in addition to partial glandular structure. We reviewed our case, focusing on radiologic-pathologic correlation, and suggested hypothesis of cyst formation. According to our findings, PAMT with cyst formation would be included of differential diagnosis of gastric subepithelial tumors.
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Affiliation(s)
- Hiroyuki Akai
- Department of Radiology, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
| | - Shigeru Kiryu
- Department of Radiology, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan
| | - Masaru Shinozaki
- Department of Surgery, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan
| | - Yasunori Ohta
- Department of Pathology, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan
| | - Yoshiyasu Nakano
- Department of Radiology, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan
| | - Koichiro Yasaka
- Department of Radiology, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan
| | - Kuni Ohtomo
- Department of Radiology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan
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Moris D, Spanou E, Sougioultzis S, Dimitrokallis N, Kalisperati P, Delladetsima I, Felekouras E. Duodenal plexiform fibromyxoma as a cause of obscure upper gastrointestinal bleeding: A case report. Medicine (Baltimore) 2017; 96:e5883. [PMID: 28072751 PMCID: PMC5228711 DOI: 10.1097/md.0000000000005883] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/30/2016] [Revised: 11/30/2016] [Accepted: 12/17/2016] [Indexed: 02/06/2023] Open
Abstract
RATIONALE We are reporting the first-to our knowledge-case of duodenal Plexiform Fibromyxoma causing obscure upper gastrointestinal bleeding. PATIENT CONCERNS Plexiform fibromyxoma triggered recurrent upper gastrointestinal bleeding episodes in a 63-year-old man who remained undiagnosed, despite multiple hospitalizations, extensive diagnostic workups and surgical interventions (including gastrectomies), for almost 17 years. DIAGNOSES-INTERVENTIONS During hospitalization for the last bleeding episode, an upper gastrointestinal endoscopy revealed an intestinal hemorrhagic nodule. The lesion was deemed unresectable by endoscopic means. An abdominal computerized tomography disclosed no further lesions and surgery was decided. The lesion at operation was found near the edge of the duodenal stump and treated with pancreas-preserving duodenectomy (1st and 2nd portion). OUTCOMES Postoperative recovery was mainly uneventful and a 20-month follow-up finds the patient in good health with no need for blood transfusions.Plexiform fibromyxomas stand for a rare and widely unknown mesenchymal entity. Despite the fact that they closely resemble other gastrointestinal tumors, they distinctly vary in clinical management as well as the histopathology. Clinical awareness and further research are compulsory to elucidate its clinical course and prognosis.
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Affiliation(s)
- Demetrios Moris
- First Department of Surgery
- Department of Immunology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH
| | - Evangelia Spanou
- Department of Pathophysiology, “Laikon” General Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece
| | - Stavros Sougioultzis
- Department of Pathophysiology, “Laikon” General Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece
| | | | - Polyxeni Kalisperati
- Department of Pathophysiology, “Laikon” General Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece
| | - Ioanna Delladetsima
- Department of Pathology, Medical School, National and Kapodistrian University of Athens, Athens, Greece
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Zhou J, Xu J, Jiang G, Ma Y, Qi J, Li W, Zhang D. Gastrointestinal stromal tumor with a PDGFRA mutation masquerading as gastric plexiform fibromyxoma: A comparative clinicopathological study of two cases. Oncol Lett 2016; 13:887-892. [PMID: 28356974 PMCID: PMC5351284 DOI: 10.3892/ol.2016.5486] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/21/2015] [Accepted: 10/26/2016] [Indexed: 12/13/2022] Open
Abstract
Gastric plexiform fibromyxoma (PF) is a rare mesenchymal tumor with a histologically distinctive multinodular pattern, dissimilar to conventional gastrointestinal stromal tumor (GIST). The current study presents one case of gastric PF, and one case of GIST with a platelet-derived growth factor receptor α (PDGFRA) mutation mimicking PF, and discusses their differential diagnoses. The two patients were a 51-year-old male with PF and a 47-year-old female with GIST, each of whom presented with an occupying lesion in the gastric antrum. Histologically, the two cases shared a rare and approximately unanimous morphological pattern of a prominent multinodular and plexiform figuration in the gastric wall, including mucoid matrix, short spindle cells and small caliber vascular elements, and areas of stromal tumor cells exhibited an epithelioid appearance. Immunohistochemistry revealed that the PF tumor cells were positive for smooth muscle actin (SMA), but negative for mast/stem cell growth factor receptor (KIT), GIST-1 (DOG1), cluster of differentiation (CD) 34, S-100, desmin and cytokeratin AE1/AE3. The case of GIST expressed KIT and DOG1, but was negative for SMA, CD34, S-100, desmin and AE1/AE3. In addition, the GIST case, which was observed to harbor a D842V mutation in exon 18 of PDGFRA, was demonstrated to be genetically distinct from PF. The cases presented in the current study were uncommon in that GIST exhibited a plexiform appearance that mimicked the histology of the rare PF tumor; therefore, GIST must be considered and discounted first when determining a differential diagnosis for a gastrointestinal mesenchymal neoplasm.
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Affiliation(s)
- Jun Zhou
- Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China
| | - Jingjing Xu
- Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China
| | - Guozhong Jiang
- Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China
| | - Yihui Ma
- Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China
| | - Jingwen Qi
- Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China
| | - Wencai Li
- Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China
| | - Dandan Zhang
- Department of Pathology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P.R. China
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Inoue Y, Gunji S, Obama K, Okabe H, Sakai Y. Laparoscopy endoscopy cooperative surgery for gastric plexiform fibromyxoma: a case report. Surg Case Rep 2016; 2:119. [PMID: 27797068 PMCID: PMC5085966 DOI: 10.1186/s40792-016-0249-z] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/01/2016] [Accepted: 10/26/2016] [Indexed: 01/15/2023] Open
Abstract
Background Gastric submucosal tumors are commonly treated by partial resection under laparoscopy. However, the surgical resection of gastric submucosal tumors sometimes causes deformation of the stomach, especially in the case of intraluminal tumors located near the pylorus or esophagogastric junction. Such deformations can result in impaired diet intake and reduced quality of life. Laparoscopic endoscopic cooperative surgery has been developed to overcome these problems. This is the first report to describe a case of gastric plexiform fibromyxoma, a rare gastric submucosal tumor, that was successfully resected by laparoscopic endoscopic cooperative surgery. Case presentation A 36-year-old Japanese woman presented with epigastric pain and anemia. Gastrointestinal endoscopy revealed a submucosal tumor in the gastric antrum. Because a definitive diagnosis could not be obtained and the tumor was located near the pylorus, we performed laparoscopic endoscopic cooperative surgery as diagnostic therapy. The postoperative course was favorable with no complications, such as delayed gastric emptying or outlet obstruction. The tumor was pathologically diagnosed as gastric plexiform fibromyxoma. Conclusions Laparoscopic endoscopic cooperative surgery is a useful approach for diagnostic therapy for rare submucosal tumors to avoid the deformation of the stomach, especially when the tumor is located near the pylorus.
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Affiliation(s)
- Yoshikage Inoue
- Department of Surgery, Kyoto University Graduate School of Medicine, Yoshida Konoecho, Sakyo-ku, Kyoto-shi, Kyoto, Japan
| | - Shutaro Gunji
- Department of Surgery, Kyoto University Graduate School of Medicine, Yoshida Konoecho, Sakyo-ku, Kyoto-shi, Kyoto, Japan
| | - Kazutaka Obama
- Department of Surgery, Kyoto University Graduate School of Medicine, Yoshida Konoecho, Sakyo-ku, Kyoto-shi, Kyoto, Japan.
| | - Hiroshi Okabe
- Department of Surgery, Otsu Municipal Hospital, 2-9-9, Motomiya, Otsu-shi, Shiga, Japan
| | - Yoshiharu Sakai
- Department of Surgery, Kyoto University Graduate School of Medicine, Yoshida Konoecho, Sakyo-ku, Kyoto-shi, Kyoto, Japan
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Liang L, Fanzong L, Peixi Z, Cuihong H. Plexiform angiomyxoid myofibroblastic tumor of the stomach: A case report. Diagn Cytopathol 2016; 45:55-58. [PMID: 27561459 DOI: 10.1002/dc.23572] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/08/2016] [Revised: 07/12/2016] [Accepted: 08/04/2016] [Indexed: 01/29/2023]
Abstract
Plexiform angiomyxoid myofibroblastic tumor (PAMT) is a rare mesenchymal tumor of the stomach. To date, about 40 cases of PAMT have been reported in the literature. This tumor is not specific in clinical manifestations and microscopically characterized by a plexiform growth pattern. Here, we report the case of an 11-year-old male patient who was diagnosed with PAMT. He had a complaint of right epigastric discomfort with episodic pain, gastroscopy displayed a submucosal bulge at the pylorus, and CT showed a mass in the right abdomen with uneven, delayed enhancement, and a partial gastrectomy revealed a tumor at the pylorus. Histologically, the tumor was multinodular and rich in blood vessels with thin wall; the interstitium had abundant myxomatous stroma; the tumor cells were spindle-shaped, star-shaped, or oval. Immunohistochemically, the tumor cells were positive for Calponin, Caldesmon, and SMA, but negative for CD34, ALK, S-100, desmin, CD117, and Dog-1. This patient was followed up for 12 months, and recurrence or metastasis was not observed. Diagn. Cytopathol. 2017;45:55-58. © 2016 Wiley Periodicals, Inc.
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Affiliation(s)
- Li Liang
- Department of Pathology, the First People's Hospital of Jining City, No 6, Jiankang Road, Jining City, Shandong, 272011, People's Republic of China
| | - Lin Fanzong
- Department of Pathology, the First People's Hospital of Jining City, No 6, Jiankang Road, Jining City, Shandong, 272011, People's Republic of China
| | - Zhang Peixi
- Department of Cardiothoracic Surgery, the First People's Hospital of Jining City, No 6, Jiankang Road, Jining City, Shandong, 272011, People's Republic of China
| | - Han Cuihong
- Department of Pathology, the First People's Hospital of Jining City, No 6, Jiankang Road, Jining City, Shandong, 272011, People's Republic of China
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50
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Quero G, Musarra T, Carrato A, Fici M, Martini M, Dei Tos AP, Alfieri S, Ricci R. Unusual focal keratin expression in plexiform angiomyxoid myofibroblastic tumor: A case report and review of the literature. Medicine (Baltimore) 2016; 95:e4207. [PMID: 27428222 PMCID: PMC4956816 DOI: 10.1097/md.0000000000004207] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/17/2022] Open
Abstract
BACKGROUND Plexiform angiomyxoid myofibroblastic tumor (PAMT), also known as plexiform fibromyxoma, is a rare distinctive benign intramural tumor, typical of gastric antrum, commonly causing mucosal ulceration with upper gastrointestinal bleeding and anemia, effectively treated by complete surgical resection usually accomplished by distal gastrectomy. METHODS AND RESULTS We herein report a 47-year-old man presenting with a syncopal episode, regurgitation and epigastric discomfort, bearing a gastric antral myxoid plexiform tumor positive for α-smooth muscle actin, vimentin and, partially, for caldesmon, desmin, and CD10; CD117, DOG1, CD34, S100, CAM5.2, CK20, CK7, EMA, p53, CDX2, chromogranin A, synaptophysin, anaplastic lymphoma kinase, Melan-A, and HMB-45 were all negative. All these features are typical of PAMT. Of note, focal positivity for AE1/AE3 and pan-CK KL1 was also present. CONCLUSIONS The finding of a focal keratin expression in PAMT contributes to enlarge the immunophenotypic spectrum of this tumor type and is relevant for avoiding presurgical misdiagnoses which could ultimately lead to inappropriate overtreatment of patients with PAMT.
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Affiliation(s)
| | | | - Alfredo Carrato
- Department of Gastroenterology and Digestive Endoscopy, “A. Cardarelli” Hospital
| | | | | | - Angelo Paolo Dei Tos
- Department of Medicine, University of Padua School of Medicine, Padua, Italy and Department of Pathology, Treviso Regional Hospital, Treviso, Italy
| | | | - Riccardo Ricci
- Department of Pathology, Catholic University, Rome
- Correspondence: Riccardo Ricci, Department of Pathology, Catholic University, Largo A. Gemelli, 8, I-00168 Rome, Italy (e-mail: )
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