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Perivoliotis K, Baloyiannis I, Samara AA, Koutoukoglou P, Ntellas P, Dadouli K, Ioannou M, Tepetes K. Microvessel density in patients with gastrointestinal stromal tumors: A systematic review and meta-analysis. World J Methodol 2023; 13:153-165. [PMID: 37456971 PMCID: PMC10348082 DOI: 10.5662/wjm.v13.i3.153] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/14/2023] [Revised: 04/30/2023] [Accepted: 05/16/2023] [Indexed: 06/20/2023] Open
Abstract
BACKGROUND Gastrointestinal stromal tumors (GISTs) are considered the most common mesenchymal tumors of the gastrointestinal tract. Microvessel density (MVD) constitutes a direct method of vascularity quantification and has been associated with survival rates in multiple malignancies. AIM To appraise the effect of MVD on the survival of patients with GIST. METHODS This study adhered to Systematic reviews and Meta-Analyses guidelines and the Cochrane Handbook for Systematic Reviews of Interventions. Electronic scholar databases and grey literature repositories were systematically screened. The Fixed Effects or Random Effects models were used according to the Cochran Q test. RESULTS In total, 6 eligible studies were identified. The pooled hazard ratio (HR) for disease free survival (DFS) was 8.52 (95%CI: 1.69-42.84, P = 0.009). The odds ratios of disease-free survival between high and low MVD groups at 12 and 60 mo did not reach statistical significance. Significant superiority of the low MVD group in terms of DFS was documented at 36 and 120 mo (OR: 8.46, P < 0.0001 and OR: 22.71, P = 0.0003, respectively) as well as at metastases rate (OR: 0.11, P = 0.0003). CONCLUSION MVD significantly correlates with the HR of DFS and overall survival rates at 36 and 120 mo. Further prospective studies of higher methodological quality are required.
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Affiliation(s)
| | - Ioannis Baloyiannis
- Department of Surgery, University Hospital of Larissa, Larissa 41110, Greece
| | - Athina A Samara
- Department of Surgery, University Hospital of Larissa, Larissa 41110, Greece
| | - Prodromos Koutoukoglou
- Research Methodology in Biomedicine, Biostatistics and Clinical Bioinformatics, University of Thessaly, 41110 41110, Greece
| | - Panagiotis Ntellas
- Department of Pathology, University Hospital of Larissa, Larissa 41110, Greece
| | - Katerina Dadouli
- Research Methodology in Biomedicine, Biostatistics and Clinical Bioinformatics, University of Thessaly, 41110 41110, Greece
| | - Maria Ioannou
- Department of Pathology, University Hospital of Larissa, Larissa 41110, Greece
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2
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Jain A, Yadav SK, Silodia A, Khandare M. Gastric Gastro-intestinal Stromal Tumour Presenting as an Acute Perforation Peritonitis in a Young Male. Indian J Surg Oncol 2022; 13:905-906. [PMID: 36687256 PMCID: PMC9845469 DOI: 10.1007/s13193-022-01600-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/19/2022] [Accepted: 07/19/2022] [Indexed: 01/25/2023] Open
Affiliation(s)
- Ankur Jain
- Department of Surgery, NSCB Medical College, Jabalpur, India
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3
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Kirov KG, Bogdanov BG. Large extragastrointestinal stromal tumor of the lesser omentum. Chirurgia (Bucur) 2021. [DOI: 10.23736/s0394-9508.20.05101-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022]
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4
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Ramaswamy A, Chaudhari V, Bhargava P, Bhandare M, Kumar R, Shrikhande SV, Ostwal V. Gastrointestinal Stromal Tumor – An Overview. Indian J Med Paediatr Oncol 2020; 41:809-818. [DOI: 10.4103/ijmpo.ijmpo_45_20] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
Abstract
AbstractGastrointestinal stromal tumors (GISTs) are rare tumors but are most common mesenchymal tumors of the digestive tract. They are commonly seen in the stomach (60%) and small intestine (30%). GISTs are likely derived from the interstitial cells of Cajal or their stem cell precursors. They are best characterized by computerized tomography and have a specific staining pattern on immunohistochemistry, i.e., C-Kit and DOG-1. The treatment of GIST is based on the risk assessment for relapse, and patients with localized GIST require resection with or without adjuvant imatinib mesylate (IM). Advanced unresectable tumors are usually treated with IM, with a number of further options available for patients post progression on IM. There is an increasing emphasis on identifying C-Kit and platelet-derived growth factor receptor alpha mutations in all patients with GIST, as these are driver mutations with current and future therapeutic implications.
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Affiliation(s)
- Anant Ramaswamy
- Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India
| | - Vikram Chaudhari
- GI and HPB Surgery, Department of Surgical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, Maharashtra, India
| | - Prabhat Bhargava
- Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India
| | - Manish Bhandare
- GI and HPB Surgery, Department of Surgical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, Maharashtra, India
| | - Rajiv Kumar
- Department of Pathology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, Maharashtra, India
| | - Shailesh v Shrikhande
- GI and HPB Surgery, Department of Surgical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai, Maharashtra, India
| | - Vikas Ostwal
- Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute (HBNI), Mumbai, Maharashtra, India
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5
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Bhatia A, Ahuja A, Goel H, Bhardwaj M. Primary Adrenal Gastrointestinal Stromal Tumor (GIST): a Rarest Incidentaloma and Diagnostic Challenge. Indian J Surg Oncol 2020. [DOI: 10.1007/s13193-020-01182-8] [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] Open
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6
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Jin M, Chowsilpa S, Ali SZ, Wakely PE. Mesenchymal neoplasms of the tubular gut and adjacent structures: experience with EUS-guided fine-needle aspiration cytopathology. J Am Soc Cytopathol 2020; 9:528-539. [PMID: 32622859 DOI: 10.1016/j.jasc.2020.05.009] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/16/2020] [Revised: 05/23/2020] [Accepted: 05/26/2020] [Indexed: 12/17/2022]
Abstract
INTRODUCTION Unlike epithelial malignancies, mesenchymal neoplasms arising within the tubular gut are less often encountered in endoscopic ultrasound-guided (EUS) fine-needle aspiration biopsies (FNABs). Nonetheless, preoperative diagnosis of such neoplasms has important therapeutic and prognostic value. We report our experience with this category of neoplasms from the past decade. MATERIALS AND METHODS We performed a 10-year retrospective search at our respective institutions to identify EUS-guided FNAB cases of mesenchymal neoplasms arising from the tubular gut wall and closely adjacent structures. Cytopathologic diagnoses were compared to corresponding surgical pathology (SP) when available. Cases with either no confirmatory cell block (CB) immunohistochemical (IHC) staining, or no SP were excluded. RESULTS Two-hundred eighty-two cases (M:F = 1:1; age range: 25-94 years, mean age = 60 years) of EUS-guided FNAB from the tubular gut met our criteria. Onsite adequacy was performed on nearly all cases. Case numbers: 209 gastrointestinal stromal tumors (GIST), 58 smooth muscle neoplasms, and 15 miscellaneous neoplasms. Of these, 188 (67%) had SP follow-up. We found that 258 (91%) aspirates had a correct specific diagnosis, 3 (1%) were nondiagnostic, 18 (6%) had indeterminate diagnoses, and 3 (1%) had incorrect diagnoses (2 leiomyosarcomas mistaken as leiomyoma, and 1 fibrosclerotic lesion mistaken as inflammatory pseudotumor). Of 94 cases with no SP, all had a specific cytologic diagnosis based on confirmatory IHC staining from the CB including 61 GISTs, 29 smooth muscle neoplasms, and 4 miscellaneous tumors. CONCLUSION This study endorses the clinical utility of EUS-guided FNAB in the diagnosis of tubular gut mesenchymal neoplasms. A definitive and accurate diagnosis is possible in over 90% of cases, chiefly when cytomorphology is coupled with optimal cellularity and IHC from a concurrent CB. EUS-guided FNAB diagnosis of mesenchymal tubular gut neoplasms may play an important role in determining neoadjuvant therapy as targeted therapy evolves.
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Affiliation(s)
- Ming Jin
- Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio
| | - Sayanan Chowsilpa
- Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland
| | - Syed Z Ali
- Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland
| | - Paul E Wakely
- Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio.
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7
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Gao X, Ma C, Sun X, Zhao Q, Fang Y, Jiang Y, Shen K, Shen X. Upregulation of ZNF148 in SDHB-deficient gastrointestinal stromal tumor potentiates Forkhead box M1-mediated transcription and promotes tumor cell invasion. Cancer Sci 2020; 111:1266-1278. [PMID: 32060966 PMCID: PMC7156819 DOI: 10.1111/cas.14348] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/08/2019] [Revised: 01/18/2020] [Accepted: 02/03/2020] [Indexed: 12/18/2022] Open
Abstract
Succinate dehydrogenase (SDH) deficiency is associated with gastrointestinal stromal tumor (GIST) oncogenesis, but the underlying molecular mechanism remains to be further investigated. Here, we show that succinate accumulation induced by SDHB loss of function increased the expression of zinc finger protein 148 (ZNF148, also named ZBP-89) in GIST cells. Meanwhile, ZNF148 is found to be phosphorylated by ERK at Ser306, and this phosphorylation results in ZNF148 binding to Forkhead box M1 (FOXM1). Through the complex formation at the promoter, ZNF148 facilitates Histone H3 acetylation and FOXM1-mediated Snail transcription, which eventually promotes cell invasion and tumor growth. The clinical analysis indicates that SDHB deficiency is associated with elevated ZNF148 levels, and ZNF148-S306 phosphorylation level displays a positive correlation with poor prognosis in GIST patients. These findings illustrate an unidentified molecular mechanism underlying FOXM1-regulated gene transcription related to GIST cell invasion, which highlights the physiological effects of SDHB deficiency on the invasiveness of GIST.
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Affiliation(s)
- Xiaodong Gao
- Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China
| | - Chunmin Ma
- The Institute of Cell Metabolism, School of Medicine, Shanghai General Hospital, Shanghai Jiaotong University, Shanghai, China
| | - Xiangwei Sun
- Department of General Surgery, Second Affiliated Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China
| | - Qin Zhao
- The Institute of Cell Metabolism, School of Medicine, Shanghai General Hospital, Shanghai Jiaotong University, Shanghai, China
| | - Yong Fang
- Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China
| | - Yuhui Jiang
- The Institute of Cell Metabolism, School of Medicine, Shanghai General Hospital, Shanghai Jiaotong University, Shanghai, China
| | - Kuntang Shen
- Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, China
| | - Xian Shen
- Department of General Surgery, Second Affiliated Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China
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Yayu H, Changmao Z, Yijun D, Na L, Tianwen X, Yangbin D. Recurrent and metastatic extragastrointestinal stromal tumors of the mesentery with C-KIT and PDGFRA mutations: a case report. Cancer Biol Ther 2019; 21:101-107. [PMID: 31599195 DOI: 10.1080/15384047.2019.1671110] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2022] Open
Abstract
EGISTs originating outside the gastrointestinal tract share some similarities with the GISTs regarding their immunohistochemical features including the positive expression of CD117 and CD34. The majority of EGISTs carry activating mutations of the C-KIT or PDGFRA genes. However, there is no precedent in the literature where the two mutations occur in one case of EGISTs to date. We describe herein, a 52-year-old female who presented as mesenteric and pelvic regions masses showing positive immunoreactivity for CD117, DOG-1, CD34. Mutation analysis identified two mutations that located in the exon 13 of C-KIT and in the exon 18 of PDGFRA. The patient was treated sequentially with imatinib, sunitinib, sorafenib, and regorafenib. However, the prognosis was undesirable. Previous research has shown that expression of members of Bcl-2 family may be helpful in predicting prognosis, the survival time, and the resistance to chemotherapeutic agents. IHC was performed to detect the expression of BCL-2 family. The results show that high BCL-2 expression and low BAX expression in both specimens. In conclusion, our case may suggest that the presence of both C-KIT and PDGFRA mutations in EGISTs patients may indicate a very poor prognosis; and the expression level of BCL-2 and BAX could predict clinical outcome.
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Affiliation(s)
- Huang Yayu
- Department of Medical Oncology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China
| | - Zhang Changmao
- School of Clinical Medicine, Fujian Medical University, Fuzhou, Fujian, China
| | - Dai Yijun
- Department of Medical Oncology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China
| | - Lin Na
- Department of Pathology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China
| | - Xu Tianwen
- Department of Medical Oncology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China
| | - Dai Yangbin
- Department of Medical Oncology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China
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9
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Mara D, Sylla M, Ly S, Soumana ID, Alami B, Maâroufi M, Maazaz K, Lamrani YA. [Multiple gastrointestinal stromal masses in the small bowel detected in a patient with peritonitis]. Pan Afr Med J 2019; 33:102. [PMID: 31489080 PMCID: PMC6711688 DOI: 10.11604/pamj.2019.33.102.17240] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/30/2018] [Accepted: 10/07/2018] [Indexed: 11/22/2022] Open
Abstract
We here report a case of multiple gastrointestinal stromal tumors (GIST) in the small bowel detected in a patient with peritonitis. The peculiarity of this case study is the intraoperative detection of multifocal small bowel tumor masses, suggesting gastrointestinal stromal tumors on postoperative CT scan. Tumor couldn't be suspected clinically on the basis of peritonitis.
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Affiliation(s)
- Dondo Mara
- Service de Radiologie, CHU Hassan II Fès, Maroc
| | - Moussa Sylla
- Service de Chirurgie Viscérale, CHU Hassan II Fès, Maroc
| | - Seydou Ly
- Service de Radiologie, CHU Hassan II Fès, Maroc
| | | | - Badr Alami
- Service de Radiologie, CHU Hassan II Fès, Maroc
| | | | - Khalid Maazaz
- Service de Chirurgie Viscérale, CHU Hassan II Fès, Maroc
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10
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Hananeh WM, Ismail ZB, Daradka MH. Tumors of the reproductive tract of sheep and goats: A review of the current literature and a report of vaginal fibroma in an Awassi ewe. Vet World 2019; 12:778-782. [PMID: 31439993 PMCID: PMC6661476 DOI: 10.14202/vetworld.2019.778-782] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/03/2019] [Accepted: 04/18/2019] [Indexed: 01/17/2023] Open
Abstract
AIMS This study aimed to provide a summary of all online available literature of published clinical and histopathological data regarding tumors affecting the reproductive tract of female sheep and goats. In addition, a detailed description of the clinical history, clinical findings, and gross and histopathological findings of one case of vaginal fibroma in an adult Awassi sheep is provided for the first time. MATERIALS AND METHODS Internet search engines such as PubMed, ResearchGate, Scopus, ScienceDirect, and Google Scholar were used to collect all published articles in refereed journals from 2000 to 2018 regarding tumors and tumor-like lesions involving the reproductive tract of ewes and does. RESULTS There are six published papers in sheep and nine in goats reporting various malignant and non-malignant tumors involving different parts of the reproductive tract. The most commonly diagnosed tumors of the reproductive tract were leiomyoma (six cases), adenocarcinoma (six cases), leiomyosarcoma (three cases), adenoma (one case), squamous cell carcinoma (one case), and metastatic signet ring cell carcinoma (one case). The most common sites of tumor formation were the uterus (10 cases), vulva/vagina (five cases), ovaries (four cases), cervix (four cases), and Bartholin's gland (one case). All affected animals were aged females (older than 3 years of age). In both ewes and does, the most frequently reported clinical symptoms were chronic weight loss, pyometra, hydrometra, vaginal bleeding, abnormal vaginal discharges, straining, pollakisurie, ascites, and abdominal distension. CONCLUSIONS Tumors of the reproductive organs in sheep and goats are not uncommon and should be considered in the differential diagnoses in cases with poor reproductive function.
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Affiliation(s)
- Wael M. Hananeh
- Department of Pathology and Public Health, Faculty of Veterinary Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan
| | - Zuhair B. Ismail
- Department of Clinical Veterinary Sciences, Faculty of Veterinary Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan
| | - Mousa H. Daradka
- Department of Clinical Veterinary Sciences, Faculty of Veterinary Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan
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11
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Dey CB, Fong V, Shaves S. Perforated small bowel GIST in an immunocompromised male. Radiol Case Rep 2019; 14:468-471. [PMID: 30787963 PMCID: PMC6370547 DOI: 10.1016/j.radcr.2019.01.014] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/04/2018] [Revised: 01/27/2019] [Accepted: 01/28/2019] [Indexed: 12/04/2022] Open
Abstract
Gastrointestinal (GI) stromal tumor is a relatively rare tumor of the GI tract, with estimated prevalence of 2%, which arises from the interstitial cells of Cajal. Common presentations range from asymptomatic to abdominal pain, bloating, GI bleeding, and anemia. Less-common signs include obstruction and peritonitis. In this case, a young immunocompromised patient experienced a changing symptomatic spectrum with an enlarging abdominal mass, which ultimately perforated, leading to acute peritonitis.
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12
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Aoe Y, Sugihara T, Ogawa A, Nagahara R, Miyoshi K, Matono T, Nagahara T, Isomoto H, Kuroda H, Hirooka Y. Natural History of Exophytic Type Gastrointestinal Stromal Tumor: A Case Report. Yonago Acta Med 2019. [DOI: 10.33160/yam.2019.03.024] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/05/2022]
Affiliation(s)
- Yasutaka Aoe
- *Department of Pathobiological Science and Technology, School of Health Science, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
| | - Takaaki Sugihara
- †Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
| | - Ayame Ogawa
- *Department of Pathobiological Science and Technology, School of Health Science, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
| | - Ran Nagahara
- †Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
| | - Kenichi Miyoshi
- †Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
| | - Tomomitsu Matono
- †Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
| | - Takakazu Nagahara
- †Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
| | - Hajime Isomoto
- †Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
| | - Hirohiko Kuroda
- ‡Division of Surgical Oncology, Department of Surgery, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
| | - Yasuaki Hirooka
- *Department of Pathobiological Science and Technology, School of Health Science, Tottori University Faculty of Medicine, Yonago 683-8503, Japan
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13
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Chintanaboina J, Clarke K. Case of colonic mucosal Schwann cell hamartoma and review of literature on unusual colonic polyps. BMJ Case Rep 2018; 2018:bcr-2018-224931. [PMID: 30244220 DOI: 10.1136/bcr-2018-224931] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/03/2022] Open
Abstract
Mucosal Schwann cell hamartomas (MSCH) are benign mesenchymal tumours rarely seen in the gastrointestinal tract. They occasionally present as incidental sessile polyps during colonoscopy. A 55-year-old asymptomatic female patient with a medical history of multiple sclerosis presented for a screening colonoscopy. A 5 mm low-risk tubular adenoma was noted in the caecum, and a second 5 mm polyp was found in the ascending colon. Histopathology of the ascending colon polyp showed proliferation of spindle cells without ganglion cells in the lamina propria. Immunohistochemical findings are compatible with an MSCH. Surveillance colonoscopy was scheduled in 5 years based on the presence of a single low-risk tubular adenoma.
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Affiliation(s)
| | - Kofi Clarke
- Penn State Milton S Hershey Medical Center, Hershey, Pennsylvania, USA
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14
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Koh FHX, Kim G, So JBY, Petersson F, Shabbir A. An unfortunate soul: a rare presentation of an uncommon pathology for upper gastrointestinal bleeding. ANZ J Surg 2017; 89:776-777. [PMID: 29216681 DOI: 10.1111/ans.14306] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/02/2017] [Revised: 10/05/2017] [Accepted: 10/14/2017] [Indexed: 10/18/2022]
Affiliation(s)
- Frederick H X Koh
- Division of Upper Gastrointestinal Surgery, University Surgical Cluster, National University Hospital, National University Health Systems, Singapore
| | - Guowei Kim
- Division of Upper Gastrointestinal Surgery, University Surgical Cluster, National University Hospital, National University Health Systems, Singapore
| | - Jimmy B Y So
- Division of Upper Gastrointestinal Surgery, University Surgical Cluster, National University Hospital, National University Health Systems, Singapore
| | - Fredrik Petersson
- Department of Pathology, National University Hospital, National University Health Systems, Singapore
| | - Asim Shabbir
- Division of Upper Gastrointestinal Surgery, University Surgical Cluster, National University Hospital, National University Health Systems, Singapore
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15
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Campanella NC, Scapulatempo-Neto C, Abrahão-Machado LF, Torres De Oliveira AT, Berardinelli GN, Guimarães DP, Reis RM. Lack of microsatellite instability in gastrointestinal stromal tumors. Oncol Lett 2017; 14:5221-5228. [PMID: 29113157 PMCID: PMC5662911 DOI: 10.3892/ol.2017.6884] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/10/2017] [Accepted: 06/09/2017] [Indexed: 12/18/2022] Open
Abstract
The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair (MMR) proteins, which is present mainly in colorectal cancer and its hereditary form, hereditary nonpolyposis colorectal cancer. Gastrointestinal stromal tumor (GIST) development is associated with activating mutations of KIT proto-oncogene receptor tyrosine kinase (KIT) or platelet-derived growth factor receptor α (PDGFRA), which are oncogenes that predict the response to imatinib mesylate. In addition to KIT/PDGFRA mutations, other molecular alterations are important in GIST development. In GISTs, the characterization of the MSI phenotype is scarce and the results are not consensual. The present study aimed to assess MSI in a series of 79 GISTs. The evaluation of MSI was performed by pentaplex polymerase chain reaction comprising five markers, followed by capillary electrophoresis. The expression of MMR proteins was evaluated by immunohistochemistry. Regarding the KIT/PDGFRA/B-Raf proto-oncogene, serine/threonine kinase molecular profile of the 79 GISTs, 83.6% of the tumors possessed KIT mutations, 10.1% had PDGFRA mutations and 6.3% were triple wild-type. The mutated-PDGFRA cases were associated with gastric location and a lower mitotic index compared with KIT-mutated and wild-types, and these patients were more likely to be alive and without cancer. MSI analysis identified 4 cases with instability in one marker, however, additional evaluation of normal tissue and immunohistochemical staining of MMR proteins confirmed their microsatellite-stable nature. The results of the present study indicated that MSI is not involved in GIST tumorigenesis and, therefore, cannot serve as a biomarker to immunotherapy response in GIST.
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Affiliation(s)
- Nathália C Campanella
- Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo 14784-400, Brazil
| | - Cristovam Scapulatempo-Neto
- Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo 14784-400, Brazil.,Department of Pathology, Barretos Cancer Hospital, Barretos, São Paulo 14784-400, Brazil
| | | | | | - Gustavo N Berardinelli
- Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo 14784-400, Brazil
| | - Denise Peixoto Guimarães
- Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo 14784-400, Brazil.,Department of Endoscopy, Barretos Cancer Hospital, Barretos, São Paulo 14784-400, Brazil
| | - Rui M Reis
- Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo 14784-400, Brazil.,Life and Health Sciences Research Institute, Health Sciences School, University of Minho, Guimarães, Braga 4704-553, Portugal.,Life and Health Sciences Research Institute/3B's-PT Government Associate Laboratory, University of Minho, Guimarães, Braga 4704-553, Portugal
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16
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Aguilar LE, Tumurbaatar B, Ghavaminejad A, Park CH, Kim CS. Functionalized Non-vascular Nitinol Stent via Electropolymerized Polydopamine Thin Film Coating Loaded with Bortezomib Adjunct to Hyperthermia Therapy. Sci Rep 2017; 7:9432. [PMID: 28842557 PMCID: PMC5573377 DOI: 10.1038/s41598-017-08833-x] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/22/2017] [Accepted: 07/19/2017] [Indexed: 01/21/2023] Open
Abstract
Gastrointestinal malignancies have been a tremendous problem in the medical field and cover a wide variety of parts of the system, (i.e. esophagus, duodenum, intestines, and rectum). Usually, these malignancies are treated with palliation with the use of non-vascular nitinol stents. However, stenting is not a perfect solution for these problems. While it can enhance the quality of life of the patient, in time the device will encounter problems such as re-occlusion due to the rapid growth of the tumor. In this study, we propose a functionalization technique using electropolymerization of polydopamine directly onto the nitinol stent struts for the combined application of hyperthermia and chemotherapy. The coating was characterized using FESEM, XPS, and FT-IR. Drug release studies show that facile release of the anticancer drug BTZ from the surface of the polydopamine-coated stent could be achieved by the dissociation between catechol groups of polydopamine and the boronic acid functionality of BTZ in a pH-dependent manner. The anti-cancer property was also evaluated, and cytotoxicity on ESO26 and SNU-5 cancer cell lines were observed. Our results suggest that the introduced approach can be considered as a potential method for therapeutic stent application.
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Affiliation(s)
- Ludwig Erik Aguilar
- Department of Bionanosystem Engineering, Graduate School, Chonbuk National University, Jeonju City, Republic of Korea
| | - Batgerel Tumurbaatar
- Department of Bionanosystem Engineering, Graduate School, Chonbuk National University, Jeonju City, Republic of Korea
- Power Engineering School, Mongolian University of Science and Technology, Ulaanbaatar, Mongolia
| | - Amin Ghavaminejad
- Department of Bionanosystem Engineering, Graduate School, Chonbuk National University, Jeonju City, Republic of Korea
| | - Chan Hee Park
- Department of Bionanosystem Engineering, Graduate School, Chonbuk National University, Jeonju City, Republic of Korea.
- Department of Mechanical Design Engineering, Chonbuk National University, Jeonju City, Republic of Korea.
| | - Cheol Sang Kim
- Department of Bionanosystem Engineering, Graduate School, Chonbuk National University, Jeonju City, Republic of Korea.
- Department of Mechanical Design Engineering, Chonbuk National University, Jeonju City, Republic of Korea.
- Eco-friendly Machine Parts Design Research Center, Chonbuk National University, Jeonju City, Republic of Korea.
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17
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Primary Extragastrointestinal Stromal Tumours in the Hepatobiliary Tree and Telocytes. ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY 2017; 913:207-228. [PMID: 27796890 DOI: 10.1007/978-981-10-1061-3_14] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Abstract
The first decade of the twenty-first century witnessed the presence and light microscopic, immunophenotypic, and ultrastructural characterization of interstitial Cajal-like cells (coined as 'telocytes') in virtually every extragastrointestinal site of the human body by Laurentiu M. Popescu and his co-workers. Not surprisingly, stromal tumours, immunophenotypically similar to that of telocytes [CD117 (c-KIT) +/CD34 +], have also been sporadically reported outside the tubular gut (so-called extragastrointestinal stromal tumours, EGISTs), including the gall bladder, liver, and pancreas. A meticulous literature search from January 2000 to November 2015 have found 9 such case reports of EGISTs in the gall bladder, 16 in the liver, and 31 occurring in the pancreas. The site wise mean age at presentation for these tumours were reported to be 62.2 ± 16.6, 50.9 ± 20.1, and 55.3 ± 14.3 years, respectively. Six of nine EGISTs in the gall bladder were associated with gallstones. On pathological evaluation, these tumours exhibited prominent spindled cell morphology and consistent expression of CD117/c-KIT and CD34 on immunohistochemistry and variable expression of vimentin and α-smooth muscle actin. The biological behaviour of hepatic and pancreatic lesions was favourable compared to that in the gall bladder, following definitive surgery with or without imatinib therapy. While the exact pathophysiologic role played by telocytes in various organs is yet to be fully elucidated, there seems to be a direct link between these enigmatic stromal cells and pathogenesis of gallstones and origin of EGISTs, and a hope for targeted therapies. Furthermore, the possible role of telocytes in hepatic regeneration and liver fibrosis opens a new dimension for futuristic research.
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18
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Katsoulis IE, Tzortzopoulou A, Tziakou P, Arnogiannaki N, Kostoglou-Athanassiou I, Lypas G, Karaitianos IG. Extragastrointestinal stromal tumour of the lesser omentum: A case report and literature review. Int J Surg Case Rep 2017. [PMID: 28622526 PMCID: PMC5473543 DOI: 10.1016/j.ijscr.2017.05.040] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/14/2022] Open
Abstract
EGISTs are very rare mesenchymal tumours which originate from cells outside the gastrointestinal tract and tend to have an aggressive biological behaviour. There have been only a few previous reports of EGISTs arising in the lesser omentum. Complete surgical resection is the most effective treatment associated with the use of imatinib in the presence of adverse prognostic factors. Introduction Extragastrointestinal stromal tumours (EGISTs) are very uncommon compared to their gastrointestinal counterparts. Most of them originate from the intestinal mesentery and the omentum. Case report A 70 year-old Caucasian woman presented with a bulky abdominal mass which on laparotomy was found to originate from the lesser omentum and was completely resected. Histological examination revealed spindle cells with severe pleomorphism and high mitotic activity. Immunohistochemically, the tumour cells showed strong positivity for c-kit (CD117), DOG-1 and human haematopoietic progenitor cell antigen (CD34). An exon 11 deleterious mutation was identified and thus regular dosing of 400 mg imatinib mesylate was initiated. Discussion There have been only a few previous reports of EGISTs arising in the lesser omentum. Although EGISTs seem to have morphological and immunohistochemical similarities with GISTs, their pathogenesis, incidence, genetic background and prognosis are not completely known because they are extremely rare. It is strongly believed that such tumours originate from cells, which have similar pathological characteristics and biological behaviour as the intestinal cells of Cajal. In most series of EGISTs, a female predominance, a greater size and a higher mitotic index than GISTs were observed. Conclusion EGISTs are very rare mesenchymal tumours which originate from cells outside the gastrointestinal tract and tend to have a more aggressive biological behaviour than their GI counterparts. Complete surgical resection is the most effective treatment associated with the use of imatinib in the presence of adverse prognostic factors. In any case a strict follow-up is necessary due to high recurrence rates.
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Affiliation(s)
| | | | - P Tziakou
- St. Savvas Cancer Hospital, Athens, Greece
| | | | | | - G Lypas
- St. Savvas Cancer Hospital, Athens, Greece
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19
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Skeletal Muscle Metastasis of a GIST: A Case Report and Review of the Literature. Case Rep Surg 2017; 2016:7867545. [PMID: 28116208 PMCID: PMC5220413 DOI: 10.1155/2016/7867545] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/30/2016] [Accepted: 11/29/2016] [Indexed: 12/17/2022] Open
Abstract
Gastrointestinal stromal tumors (GISTs) are the most common malignant mesenchymal tumors of the gastrointestinal tract. The most common sites of metastasis are the liver and the peritoneum, whereas metastasis to soft tissue is rare. The authors present the case of a 78-year-old male with a soft tissue metastasis of a GIST and the current literature is reviewed.
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20
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Virani N, Pang J, Lew M. Cytologic and Immunohistochemical Evaluation of Low-Grade Spindle Cell Lesions of the Gastrointestinal Tract. Arch Pathol Lab Med 2016; 140:1038-44. [DOI: 10.5858/arpa.2016-0235-ra] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
Abstract
Spindle cell lesions of the gastrointestinal tract are relatively uncommon compared with the frequency of their epithelial counterparts. Although gastrointestinal stromal tumors and leiomyomas are the most commonly encountered spindle cell lesions in the stomach and esophagus, respectively, there are other less common diagnostic entities that should be considered for accurate diagnoses as well as appropriate patient treatment and clinical follow-up. Given the morphologic overlap of low-grade spindle cell lesions on cytologic preparations, ancillary studies play a key role in differentiating these lesions from one another.
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Affiliation(s)
- Nilam Virani
- From the Department of Pathology, University of Michigan, Ann Arbor
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21
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Pellino G, Marcellinaro R, Candilio G, De Fatico GS, Guadagno E, Campione S, Santangelo G, Reginelli A, Sciaudone G, Riegler G, Canonico S, Selvaggi F. The experience of a referral centre and literature overview of GIST and carcinoid tumours in inflammatory bowel diseases. Int J Surg 2016; 28 Suppl 1:S133-S141. [PMID: 26708852 DOI: 10.1016/j.ijsu.2015.12.051] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/13/2015] [Revised: 04/28/2015] [Accepted: 05/15/2015] [Indexed: 02/06/2023]
Abstract
Patients suffering from Inflammatory Bowel Diseases (IBD) are at increased risk of developing cancers of the gastrointestinal tract (GI). Adenocarcinomas are the most commonly observed GI tumours in IBD, and occur through an in inflammation-driven pathway. A trend toward reduced risk of bowel cancers has been observed in IBD in recent years, presumably related to improved medical treatments. However, some cancers may be independent from active inflammation, probably originating from altered interactions between the extremely active immune system of IBD patients and environmental factors. Data concerning gastrointestinal stromal tumours (GIST) and carcinoids tumours (CaT) of the GI in IBD patients are scanty. We report our experience with these rare cancers, and provide the readers with an overview on the topic, focussing on distinguishing and peculiar features of GIST and CaT of the GI in IBD compared with other cancer types and with general population, and address the treatment of such challenging conditions. Available data do not support an increased risk of GIST in IBD patients, but GI CaT may be more commonly observed in Crohn's disease. However, the presentation of GIST and GI CaT is protean and does not seem to be associated with disease activity in the involved GI segment in IBD. Conversely, some evidences suggest a potential role of inflammation in sustaining GI CaT in IBD. Increased awareness, longer duration of disease, and improved diagnostic modalities should also be considered when evaluating the increasing trend of CaT in CD patients. Treatment of GIST and CaT is not dissimilar from that of non-IBD patients, but prompt suspicion and diagnosis are crucial to achieve optimal outcomes.
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Affiliation(s)
- Gianluca Pellino
- Unit of Colorectal Surgery, Department of Medical, Surgical, Neurologic, Metabolic and Ageing Sciences, Second University of Naples, Naples, Italy.
| | - Rosa Marcellinaro
- Unit of Colorectal Surgery, Department of Medical, Surgical, Neurologic, Metabolic and Ageing Sciences, Second University of Naples, Naples, Italy.
| | - Giuseppe Candilio
- Unit of Colorectal Surgery, Department of Medical, Surgical, Neurologic, Metabolic and Ageing Sciences, Second University of Naples, Naples, Italy.
| | - G Serena De Fatico
- Unit of Colorectal Surgery, Department of Medical, Surgical, Neurologic, Metabolic and Ageing Sciences, Second University of Naples, Naples, Italy.
| | - Elia Guadagno
- Department of Advanced Biomedical Sciences, Section of Pathology, University of Naples "Federico II", Naples, Italy.
| | - Severo Campione
- Department of Advanced Biomedical Sciences, Section of Pathology, University of Naples "Federico II", Naples, Italy.
| | - Giuseppe Santangelo
- Unit of General and Geriatric Surgery, Department of Medical, Surgical, Neurological, Metabolic and Ageing Sciences, Second University of Naples, Naples, Italy.
| | | | - Guido Sciaudone
- Unit of Colorectal Surgery, Department of Medical, Surgical, Neurologic, Metabolic and Ageing Sciences, Second University of Naples, Naples, Italy.
| | - Gabriele Riegler
- Unit of Gastroenterology, Second University of Naples, Naples, Italy.
| | - Silvestro Canonico
- Unit of General and Geriatric Surgery, Department of Medical, Surgical, Neurological, Metabolic and Ageing Sciences, Second University of Naples, Naples, Italy.
| | - Francesco Selvaggi
- Unit of Colorectal Surgery, Department of Medical, Surgical, Neurologic, Metabolic and Ageing Sciences, Second University of Naples, Naples, Italy.
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22
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Yildiz MS, Doğan A, Koparan IH, Adin ME. Acute Pancreatitis and Gastroduodenal Intussusception Induced by an Underlying Gastric Gastrointestinal Stromal Tumor: A Case Report. J Gastric Cancer 2016; 16:54-7. [PMID: 27104028 PMCID: PMC4834622 DOI: 10.5230/jgc.2016.16.1.54] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/07/2016] [Revised: 02/27/2016] [Accepted: 02/28/2016] [Indexed: 01/08/2023] Open
Abstract
Gastrointestinal stromal tumors (GISTs) are rare tumors of the gastrointestinal system and comprise only 1% to 3% of all gastrointestinal tract tumors, with the majority of them arising in the stomach. In this report, we present the unique findings of a case of gastroduodenal intussusception caused by an underlying gastric GIST and complicated with severe acute pancreatitis.
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Affiliation(s)
| | - Ahmet Doğan
- Department of General Surgery, Dunya Hospital, Batman, Turkey
| | | | - Mehmet Emin Adin
- Department of Radiology, Silvan Dr. Yusuf Azizoğlu Hospital, Diyarbakır, Turkey
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23
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Komatsubara T, Zuiki T, Lefor AK, Hirota N, Oki J. Unusual gastroduodenal intussusception secondary to a gastrointestinal stromal tumor of the gastric fundus. INTERNATIONAL JOURNAL OF SURGERY OPEN 2016. [DOI: 10.1016/j.ijso.2016.10.002] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/26/2023]
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24
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Sugihara T, Koda M, Tanimura T, Yoshida M, Murawaki Y. A report of three cases of exophytic gastrointestinal stromal tumor detected by transabdominal ultrasound. J Med Ultrason (2001) 2015; 43:107-11. [PMID: 26703175 DOI: 10.1007/s10396-015-0661-1] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/09/2015] [Accepted: 07/22/2015] [Indexed: 01/11/2023]
Abstract
Gastrointestinal stromal tumors (GISTs) are the most common submucosal tumors of the stomach. GISTs are often detected by esophagogastroduodenal endoscopy (EGD). However, the exophytic GIST type is relatively rare and difficult to detect by EGD. Most exophytic GISTs found are large and symptomatic. We present three cases with exophytic GISTs less than 5 cm in diameter detected by transabdominal ultrasound (TUS). All patients were asymptomatic and TUS revealed hypoechoic solid masses 2-3 cm in diameter between the stomach and left lobe of the liver. In contrast, no tumor in the stomach was detected by esophagogastroduodenal endoscopy. Endoscopic ultrasound and enhanced CT showed gastric tumors protruding outward. All three cases underwent partial gastrectomy, and the excised tumor was diagnosed as low-grade GIST. In conclusion, TUS can be a starting point for diagnosing exophytic GISTs of the stomach.
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Affiliation(s)
- Takaaki Sugihara
- Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, Tottori University Faculty of Medicine, 36-1 Nishimachi, Yonago, Tottori, 683-8504, Japan.
| | - Masahiko Koda
- Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, Tottori University Faculty of Medicine, 36-1 Nishimachi, Yonago, Tottori, 683-8504, Japan
| | - Takashi Tanimura
- Department of Gastroenterology, Matsue Municipal Hospital, 32-1 Noshirachyo, Matsue, Shimane, 690-8509, Japan
| | - Manabu Yoshida
- Department of Clinical Laboratory, Matsue Municipal Hospital, 32-1 Noshirachyo, Matsue, Shimane, 690-8509, Japan
| | - Yoshikazu Murawaki
- Division of Medicine and Clinical Science, Department of Multidisciplinary Internal Medicine, Tottori University Faculty of Medicine, 36-1 Nishimachi, Yonago, Tottori, 683-8504, Japan
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25
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Li J, Zhang H, Chen Z, Su K. Clinico-pathological characteristics and prognostic factors of gastrointestinal stromal tumors among a Chinese population. Oncol Lett 2015; 16:4905-4914. [PMID: 30250556 PMCID: PMC6144732 DOI: 10.3892/ol.2018.9320] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/27/2017] [Accepted: 07/11/2018] [Indexed: 12/13/2022] Open
Abstract
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms in the gastrointestinal tract, exhibiting wide variability in their biological behavior. The aim of the present study was to investigate the clinicopathological characteristics and prognostic factors of GISTs in Chinese patients. All GIST cases (n=182) retrieved from the pathology database and the archived files in Shanghai Changzheng Hospital between January 2011 and December 2014 were reviewed. The clinical symptoms, preoperative investigations, treatments, pathological characteristics and follow-up data of these patients were reviewed, and univariate and multivariate survival analyses were performed. A total of 73.1% of the GISTs were located in the stomach, and the most common three symptoms included abdominal pain (30.2%), dyspepsia (23.1%) and gastrointestinal bleeding (21.4%). Univariate analysis revealed that larger tumor size (P<0.001), higher mitotic rate (P<0.001), aggressive behavior (P<0.001), negative smooth muscle actin expression (P=0.009) and palliative resection (P<0.001) contributed toward poor overall survival (OS). In addition, non-gastric disease location (P<0.001), larger tumor size (P<0.001), higher mitotic rate (P=0.004), aggressive behavior (P<0.001) and palliative resection (P<0.001) were associated with poor relapse-free survival (RFS). Multivariate analysis indicated that mitotic rate [hazard ratio (HR=3.761, P=0.015)] and aggressive behavior (HR=3.916, P=0.010) were independent risk factors for OS, while non-gastric location (HR=4.740, P=0.002) and aggressive behavior (HR=4.009, P=0.004) were independent risk factors for RFS. The present study provided information on the clinicopathological characteristics and epidemiology of GISTs in the Chinese population. Non-gastric disease location, higher mitotic rate and tumor metastasis or local invasion prior to treatment were identified as predictors of a poor prognosis.
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Affiliation(s)
- Jiehua Li
- Department of Gastrointestinal and Gland Surgery, The First Affiliated Hospital of Guangxi Medical University Nanning, Guangxi Province, China
| | - Haitian Zhang
- Department of Gastrointestinal and Gland Surgery, The First Affiliated Hospital of Guangxi Medical University Nanning, Guangxi Province, China
| | - Zhibai Chen
- Department of Gastrointestinal and Gland Surgery, The First Affiliated Hospital of Guangxi Medical University Nanning, Guangxi Province, China
| | - Ka Su
- Department of Gastrointestinal and Gland Surgery, The First Affiliated Hospital of Guangxi Medical University Nanning, Guangxi Province, China
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26
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Ki67 as a prognostic factor for long-term outcome following surgery in gastrointestinal stromal tumors. Eur J Gastroenterol Hepatol 2015; 27:1276-80. [PMID: 26275084 DOI: 10.1097/meg.0000000000000454] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/29/2022]
Abstract
OBJECTIVE This study aimed to examine the value of Ki67 expression along with other potential prognostic factors for predicting overall survival and disease-free survival in patients with gastrointestinal stromal tumors who underwent curative resection. PATIENTS AND METHODS Sixty-eight histologically confirmed and operated patients with gastrointestinal stromal tumors were included. Clinical and follow-up data were retrieved from medical records and patients were contacted at the end of the study. The effects of certain clinical and histopathological parameters on survival outcomes were examined. RESULTS Sixty-eight patients were followed for a mean duration of follow-up of 2923.3 patient-months. Twelve deaths (17.6%), seven metastasis (10.3%), and two local recurrences (2.9%) occurred. Overall survival was 102.5 months [95% confidence interval (CI), 88.3-116.8] and disease-free survival was 91.8 months (95% CI, 76.5-107.2). Multivariate analyses identified a high Ki67 index (≥ 10%) as an independent predictor of both poor overall survival (hazard ratio, 4.8; 95% CI 1.2-19.2; P=0.027) and poor disease-free survival (hazard ratio, 15.3; 95% CI, 4.7-50.2). CONCLUSION A high Ki67 expression seems to be a useful prognostic factor that would aid in predicting disease course in gastrointestinal stromal tumors. These findings deserve further investigation in larger studies.
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27
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Kakkar A, Gupta RK, Dash NR, Afshan I, Suri V. Lymphoepithelioma-like carcinoma of the stomach with incidental gastrointestinal stromal tumor (GIST)--a rare synchrony of two tumors. J Gastrointest Cancer 2015; 45 Suppl 1:120-4. [PMID: 24567007 DOI: 10.1007/s12029-014-9581-3] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Affiliation(s)
- Aanchal Kakkar
- Department of Pathology, All India Institute of Medical Sciences, New Delhi, 110029, India
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28
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Han IW, Jang JY, Lee KB, Kang MJ, Kwon W, Park JW, Chang YR, Lee HJ, Park KJ, Kim SW. Clinicopathologic analysis of gastrointestinal stromal tumors in duodenum and small intestine. World J Surg 2015; 39:1026-33. [PMID: 25270345 DOI: 10.1007/s00268-014-2810-x] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
Abstract
BACKGROUND The prognosis about duodenal GISTs is debatable. The purpose of this study is to compare the characteristics and the prognostic factors in patients with gastrointestinal stromal tumor (GIST) located in the duodenum with those located in the small intestine. METHODS One hundred-one patients with GIST located in the duodenum (n = 40), or small intestine (n = 61) underwent resection between 1996 and 2010. We analyzed clinicopathologic features, surgical outcomes, and prognostic factors. RESULTS Five-year survival rate in patients with GIST located in the duodenum and small intestine were 66.6 and 80.8%, respectively (p = 0.018). After survival analysis, high mitotic count and tumor rupture were identified as independent adverse prognostic factors. Advanced T stage and absence of adjuvant imatinib treatment were adverse prognostic factors with marginal statistical significance. The rate of progressive disease was significantly higher in patients with duodenal GISTs (36.8%) than in those with small intestinal GIST (29.6%) (p = 0.024). CONCLUSIONS The clinicopathologic findings of duodenal GIST differ from those of small intestinal GIST. Patients with duodenal GIST have a worse prognosis than those with small intestinal GIST. Aggressive treatment including surgical resection should be considered for duodenal GIST, even if the risk is relatively low.
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Affiliation(s)
- In Woong Han
- Department of Surgery, Dongguk University College of Medicine, Goyang, South Korea,
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29
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Abou Al-Shaar H, Solimanie S, Azzam A, Amin T, Abu-Zaid A. Gastrointestinal stromal tumor of the adrenal gland:a case report and review of the literature. Endocr Pathol 2015; 26:27-32. [PMID: 25510634 DOI: 10.1007/s12022-014-9350-7] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
Gastrointestinal stromal tumors (GISTs) are rare neoplasms of the gastrointestinal (GI) tract. The occurrence of these neoplasms ectopically outside the GI tract is extremely uncommon. Only one case of primary adrenal GIST has been reported in the literature. In this account, we report a second case of primary adrenal GIST in a 34-year-old male who presented with a 5-week history of gradually progressive left flank pain and early satiety. Whole-body positron emission tomography (PET)/computed tomography (CT) scan showed a 14 × 11 cm hypermetabolic (18)fluorodeoxyglucose (FDG)-avid mass lesion involving the left adrenal gland and dorsal part of the left hemi-diaphragm. Biopsy of the lesion revealed tumor cells that are immunoreactive to CD-117 and CD-34 and negative to CD-31, S-100, cytokeratin, desmin, and vimentin, features characteristic of GIST. The patient was given imatinib, which drastically decreased his complaints with almost complete resolution of the tumor on his last follow-up radiographic images. Primary left adrenal GIST is an extremely rare neoplasm and can be confused with GISTs arising from the greater curvature of the stomach. Imatinib therapy is optimal in the management of these tumors.
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Affiliation(s)
- Hussam Abou Al-Shaar
- College of Medicine, Alfaisal University, P.O. Box 50927, Riyadh, 11533, Saudi Arabia
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30
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M.S. PBB, Reddy CK, Augustine AJ, Sagari SG. Gastroduodenal intussusception due to pedunculated polypoid gastrointestinal stromal tumour (gist ): a rare case. J Clin Diagn Res 2015; 9:PD05-6. [PMID: 25738026 PMCID: PMC4347117 DOI: 10.7860/jcdr/2015/10457.5370] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/29/2014] [Accepted: 08/30/2014] [Indexed: 12/26/2022]
Abstract
Gastrointestinal stromal tumours (GISTs) account for less than 3% of all gastrointestinal tract tumours and 5.7% of all sarcomas, and the majority of these tumours are gastric in origin. Patients commonly present with gastrointestinal bleeding or abdominal pain with 10-30% of patients presenting with symptoms of gastrointestinal obstruction. We report a rare case clinically presenting as gastric outlet obstruction, gastroscopy suspecting it to be organo-axial gastric volvulus, CECT(Contrast Enhanced Computerised Tomography) suggesting features of gastric malignancy (leiomyosarcoma) keeping the possibility of differential diagnosis of GIST. Eventually on exploratory laparotomy we discovered gastric outlet obstruction due to transpylorically herniated pedunculated polypoid GIST leading to gastroduodenal inussusception.
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Affiliation(s)
| | - C Karunakar Reddy
- Post Graduate Student, Department of General Surgery, Kasturba Medical College, Mangalore, Karnataka, India
| | - Alfred J Augustine
- Professor and Head, Department of General Surgery, Kasturba Medical College, Mangalore, Karnataka, India
| | - Shitalkumar G Sagari
- Senior Lecturer, Department of Oral and Maxillofacial Pathology, Jodhpur Dental college and Hospital, Jodhpur, Rajasthan, India
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31
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Molecular analysis of the KIT gene in gastrointestinal stromal tumors with novel mutations. Appl Immunohistochem Mol Morphol 2014; 22:37-45. [PMID: 23455185 DOI: 10.1097/pai.0b013e318284a074] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
Abstract
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. KIT gene mutations have great importance for GISTs. This study evaluated the relationship between KIT mutations and GIST clinicopathologic features to define region-specific and population-specific differences. Genomic DNA was extracted from 60 GISTs, and polymerase chain reaction was performed for KIT gene exons 9, 11, 13, and 17. Polymerase chain reaction amplicons were sequenced in both directions. This study represents the first mutation data of the KIT gene in GISTs from a Turkish population and reports novel mutations. The mutation rate in exon 11 (46.7%) was remarkably higher than those of the other exons (8.3% for exon 9; 11.7% for exon 13; 1.7% for exon 17). There was an association between malignancy potential and the presence of KIT mutations (odds ratio=3.18). Cases with mutations in codons W557-K558 in exon 11 had 11-fold greater risk of malignancy when compared with those without a mutation in this exon (odds ratio=11). We report different mutations than those previously reported, which emphasizes the importance of personalized medicine that could be empowered by the use of bioinformatics tools in the diagnostic process and therapeutic approaches.
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Kang J, Jeon TJ, Yoon SO, Lee KY, Sohn SK. An extragastrointestinal stromal tumor in the omentum with peritoneal seeding mimicking an appendiceal mucinous cancer with carcinomatosis. Ann Coloproctol 2014; 30:93-6. [PMID: 24851220 PMCID: PMC4022759 DOI: 10.3393/ac.2014.30.2.93] [Citation(s) in RCA: 3] [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: 08/04/2013] [Accepted: 11/24/2013] [Indexed: 11/11/2022] Open
Abstract
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. These tumors tend to present most frequently in the stomach, followed by the small intestine. GISTs can also arise from the omentum, retroperitoneum, mesentery, or pleura and are termed extragastrointestinal stromal tumors (EGISTs) when they do so. EGISTs arising from the omentum are very rare. Due to the limited incidence of EGISTs in the omentum, the diagnostic criteria are not well established, and making a correct diagnosis may be difficult. In this report, we present a case of an EGIST of the omentum with peritoneal metastasis that was initially suspected to be an appendiceal mucinous carcinoma with carcinomatosis on positron emission tomography/computed tomography imaging.
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Affiliation(s)
- Jeonghyun Kang
- Department of Surgery, Yonsei University College of Medicine, Seoul, Korea
| | - Tae Joo Jeon
- Department of Nuclear Medicine, Yonsei University College of Medicine, Seoul, Korea
| | - Sun Och Yoon
- Department of Pathology, Yonsei University College of Medicine, Seoul, Korea
| | - Kang Young Lee
- Department of Surgery, Yonsei University College of Medicine, Seoul, Korea
| | - Seung-Kook Sohn
- Department of Surgery, Yonsei University College of Medicine, Seoul, Korea
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Wiraszka GR, Głuszek S, Kozieł D. Characteristics of gastrointestinal stromal tumours, diagnostic procedure and therapeutic management and main directions of nursing practice in gastrointestinal stromal tumours. Contemp Oncol (Pozn) 2014; 18:384-90. [PMID: 25784835 PMCID: PMC4355651 DOI: 10.5114/wo.2014.40557] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/30/2013] [Revised: 09/13/2013] [Accepted: 02/03/2014] [Indexed: 01/22/2023] Open
Abstract
Gastrointestinal stromal tumours (GIST) constitute a separate group of mesenchymal neoplasms of the gastrointestinal tract. They have been commonly recognized for a few years, they have created a new problem in medical practice. GIST are more often centred in the stomach. They equally affect female and male patients and occur mainly in patients older than 50 years of age. The clinical picture of the tumour is non-specific. Radical surgical treatment and molecularly targeted therapy with tyrosine kinase inhibitors are used in GIST treatment. Nursing practice with reference to GIST danger is connected with biopsychosocial interventions of perioperative, oncological and palliative procedures and involves the area of health education mainly oriented towards shaping preventive procedures which favour early disease detection and support therapy and recovery.
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Affiliation(s)
- Grażyna R. Wiraszka
- Institute of Nursing and Obstetrics, Faculty of Health Sciences, Jan Kochanowski University in Kielce, Poland
| | - Stanisław Głuszek
- Institute of Nursing and Obstetrics, Faculty of Health Sciences, Jan Kochanowski University in Kielce, Poland
- Clinical Department of General, Oncological and Endocrinological Surgery, Voivodship, Hospital of Kielce, Poland
| | - Dorota Kozieł
- Institute of Nursing and Obstetrics, Faculty of Health Sciences, Jan Kochanowski University in Kielce, Poland
- Clinical Department of General, Oncological and Endocrinological Surgery, Voivodship, Hospital of Kielce, Poland
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Skipworth JRA, Fanshawe AEE, West MJ, Al-Bahrani A. Perforation as a rare presentation of gastric gastrointestinal stromal tumours: a case report and review of the literature. Ann R Coll Surg Engl 2014; 96:96E-100E. [PMID: 24417854 PMCID: PMC5137650 DOI: 10.1308/003588414x13824511650010] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 12/21/2012] [Indexed: 12/16/2022] Open
Abstract
INTRODUCTION Gastrointestinal stromal tumours (GISTs) are the most common connective tissue neoplasms of the gastrointestinal tract, the most common clinical presentation of which is with abdominal pain or gastrointestinal bleeding. METHODS We describe a case of a perforated gastric GIST as well as reviewing the relevant published literature. RESULTS A 51-year-old woman presented to the acute assessment unit with a 1-day history of severe epigastric pain on a background of longstanding reflux symptoms. Radiological investigation demonstrated a perforated mass in the gastric antrum and the patient subsequently underwent an emergency distal gastrectomy. She recovered well postoperatively and was discharged home. Her condition remains stable six months following surgery. Histological analysis revealed the perforated lesion to be a GIST. A PubMed search suggests that this is the first English report to describe a perforated gastric GIST. Six further published reports (written in English or with an English abstract) describing the presentation of small bowel GISTs with perforation are reviewed. CONCLUSIONS We present the first English report of a perforated gastric GIST. More common presentations include abdominal pain and gastrointestinal bleeding. Although rare, GISTs should be considered in the differential diagnoses of perforated gastrointestinal masses.
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Prognostic value of mutational characteristics in gastrointestinal stromal tumors: a single-center experience in 275 cases. Med Oncol 2013; 31:819. [PMID: 24338275 DOI: 10.1007/s12032-013-0819-x] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/22/2013] [Accepted: 12/07/2013] [Indexed: 12/13/2022]
Abstract
The objective of this study was to investigate the impact of KIT/PDGFRA mutations on the prognosis of gastrointestinal stromal tumors (GISTs). In the present study, genotype analyses were performed based on GIST samples from 275 patients. The relationship between mutation and clinicopathological characteristics were explored. All factors were evaluated for their impacts on relapse-free survival (RFS). Briefly, the results of genotype analyses showed that mutations were identified in 258 (93.8 %) patients, and deletion was the most frequent type of mutation accounting for 47.3 % (122/258) of all mutation cases, followed by substitution (87/258, 33.7 %) and duplication (49/258, 19.0 %). Moreover, for KIT exon 11 mutation, the most frequently involved area was from codon 557 to 560. Deep analyses showed that the mutation types were correlated with tumor location (P = 0.005), tumor size (P = 0.022), mitosis rate (P < 0.001), risk grade (P < 0.001), and relapse (P = 0.004). Furthermore, delW557-K558 correlated with mitosis rate (P = 0.042) and relapse (P = 0.036), and delTyr568/570 correlated with tumor origin (P = 0.018). Most importantly, mitotic rate [HR = 2.901 (95 % CI 1.094-7.695), P = 0.032] and risk grade [HR = 9.629 (95 % CI 1.997-46.416), P = 0.005] would be the representative traditional prognostic factors, and deletion with >3 codons would be an novel independent predictor of poor outcome for RFS in GIST patients with deletion mutation of KIT exon 11 [HR = 7.970 (95 % CI 1.774-35.803), P = 0.007]. All results indicated that mutation determined clinicopathological features and prognosis of GISTs, and more than three codons involvement may be a novel adverse indicator.
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Siu J, Lim M, Fischer J, Dobbs B, Wakeman C, Ing A, Frizelle F. Ten-year review of gastrointestinal stromal tumours at a tertiary referral hospital in New Zealand. ANZ J Surg 2013; 86:162-6. [PMID: 24325620 DOI: 10.1111/ans.12429] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 04/13/2013] [Indexed: 12/13/2022]
Abstract
BACKGROUND Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract and make up 1-2% of all gastrointestinal malignancies. Traditionally, the treatment of choice for primary disease is surgical resection; however, no single surgeon or institution gets extensive exposure to these patients so appropriate decision-making is difficult, particularly since the introduction of the tyrosine kinase inhibitor imatinib, which has become an important additional management tool. METHOD All patients were diagnosed and treated for GISTs in Christchurch Hospital (Christchurch, New Zealand) between 1 January 2000 and 31 December 2010. We maintain a prospective database of all patients with GISTs. Data on clinical and histopathological variables, management and survival outcomes were recorded. These were then reviewed. RESULTS There were 93 patients in this study. Fifty were women. Median age was 69 (interquartile range (IQR) 59-76) years. Fifty-one tumours were located in the stomach, 27 in the small bowel, six in the colon, three in the oesophagus, one in the rectum and five were extra-gastrointestinal. In total, 22 patients received imatinib therapy; four patients with metastatic disease had imatinib as sole therapy. The median follow-up was 58 (IQR 30-90) months. The 5-year overall survival and disease-free survival (DFS) for the entire study population was 69% and 64%, respectively. The 5-year DFS was higher for all patients who have localized disease when compared with those who have metastatic disease (76% versus 28%, P-value 0.001). CONCLUSION Surgery aiming at an R0 resection remains the mainstay of treatment. We propose the most effective way to grow the knowledge base in New Zealand is the establishment of a national register, thereby allowing better clinical decision-making by interpretation of a larger data set.
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Affiliation(s)
- Joey Siu
- Colorectal Unit, Department of Surgery, Christchurch Hospital, Christchurch, New Zealand
| | - Michael Lim
- Colorectal Unit, Department of Surgery, Christchurch Hospital, Christchurch, New Zealand
| | - Jesse Fischer
- Colorectal Unit, Department of Surgery, Christchurch Hospital, Christchurch, New Zealand
| | - Bruce Dobbs
- Colorectal Unit, Department of Surgery, Christchurch Hospital, Christchurch, New Zealand
| | - Chris Wakeman
- Colorectal Unit, Department of Surgery, Christchurch Hospital, Christchurch, New Zealand
| | - Andrew Ing
- Colorectal Unit, Department of Surgery, Christchurch Hospital, Christchurch, New Zealand
| | - Frank Frizelle
- Colorectal Unit, Department of Surgery, Christchurch Hospital, Christchurch, New Zealand
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Wang C, Jin MS, Zou YB, Gao JN, Li XB, Peng F, Wang HY, Wu ZD, Wang YP, Duan XM. Diagnostic significance of DOG-1 and PKC-θ expression and c-Kit/PDGFRA mutations in gastrointestinal stromal tumours. Scand J Gastroenterol 2013; 48:1055-65. [PMID: 23862765 DOI: 10.3109/00365521.2013.816770] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/04/2023]
Abstract
OBJECTIVE To investigate discovered on gastrointestinal stromal tumor (GIST)-1 (DOG-1) and protein kinase C-θ (PKC-θ) expression in a series of GISTs and determine the sensitivity, specificity, and diagnostic value of these two antigens. METHODS Immnunohistochemistry (IHC) was used to detect CD117, DOG-1, PKC-θ, CD34, Ki-67, α-smooth muscle actin (SMA), S100, and Desmin expression in 147 GISTs and 51 non-GISTs. c-Kit gene (exons 9, 11, 13, and 17) and platelet-derived growth factor receptor-alpha (PDGFRA) gene (exons 12 and 18) mutations were also detected. RESULTS About 94.5% GISTs were CD117 positive, 96% were DOG-1 positive, and 90.5% were PKC-θ positive. DOG-1 had a specificity of 100%, while CD117 and PKC-θ had a specificity of 90% and 80%, respectively. There was no significant difference between DOG-1 and PKC-θ expressions when compared to CD117 expression. In 30 out of 42 (71.5%) GISTs, a c-Kit gene mutation was found, and in 3 out of 42 cases (7%), PDGFRA was mutated. Wild-type c-Kit/PDGFRA genes accounted for 21.5% (9/42). Most c-Kit gene mutations were found to be located at exon 11, mainly as in-frame deletions. Mutations in exon 9 were all missense mutations. Most PDGFRA gene mutations were found in exon 18, codon 842. c-Kit gene mutations in exons 13 and 17, and the PDGFRA gene mutation in exon 12 were not detected. CONCLUSIONS Compared to CD117, DOG-1 is a biomarker with higher sensitivity and specificity. The combination of CD117 and DOG-1 can be used to improve the diagnosis of GIST. Although PKC-θ has a lower specificity than DOG-1, it can be a useful biomarker, especially in CD117(-) and/or DOG-1(-) cases.
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Affiliation(s)
- Chao Wang
- Pathological Diagnosis Center, First Hospital of Jilin University, Changchun 130021, China
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Bae MN, Lee JE, Bae SM, Kim EY, Kim EO, Jung SH, Oh JH, Min KO. Mucosal schwann-cell hamartoma diagnosed by using an endoscopic snare polypectomy. Ann Coloproctol 2013; 29:130-4. [PMID: 23862132 PMCID: PMC3710775 DOI: 10.3393/ac.2013.29.3.130] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/24/2012] [Accepted: 11/19/2012] [Indexed: 02/08/2023] Open
Abstract
Colorectal polyps of mesenchymal origin are a rare group of colorectal disorders. A "mucosal Schwann-cell hamartoma," which is one type of polypoid lesion that originates from the mesenchyme, is a newly-proposed disease entity to be distinguished from the neurofibromas found in type-1 neurofibromatosis. This lesion is composed of pure Schwann-cell proliferation in the lamina propria and shows diffuse immunoreactivity for the S-100 protein. We report a case of a polypoid lesion of the colon with the features of this recently-proposed disease entity.
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Affiliation(s)
- Myoung Nam Bae
- Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea
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Mou Y, Wu C, Yi H, Liu W, Jing L, Luo R, Zhang Q, Chen M, Tang C, Hu B. A case report: endoscopic enucleation of gastrointestinal stromal tumor of the ampulla of Vater. Clin J Gastroenterol 2013; 6:198-201. [PMID: 26181595 DOI: 10.1007/s12328-013-0375-0] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/12/2012] [Accepted: 02/25/2013] [Indexed: 02/07/2023]
Abstract
OBJECTIVE To report a case of endoscopic enucleation of a gastrointestinal stromal tumor of the ampulla of Vater. DESIGN The tumor resection was performed by needle knife endoscopic submucosal dissection. RESULTS The tumor was resected completely without serious complications and the patient recovered rapidly. CONCLUSION Endoscopic enucleation may be an alternative treatment for gastrointestinal stromal tumors of the ampulla of Vater for patients who fulfill certain requirements.
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Affiliation(s)
- Yi Mou
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
| | - Chuncheng Wu
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
| | - Hang Yi
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
| | - Wei Liu
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
| | - Li Jing
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
| | - Rong Luo
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
| | - Qiongying Zhang
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
| | - Min Chen
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
| | - Chengwei Tang
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China
| | - Bing Hu
- Endoscopic Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China.
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Risk stratification models and mutational analysis: keys to optimising adjuvant therapy in patients with gastrointestinal stromal tumour. Eur J Cancer 2012. [PMID: 23206668 DOI: 10.1016/j.ejca.2012.10.025] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/02/2023]
Abstract
Imatinib is a standard of care in the adjuvant treatment of patients with resected gastrointestinal stromal tumour (GIST). Two important trials have shown a reduction in GIST recurrence rates for patients treated with imatinib 400 mg daily for 1 year; one of these trials also demonstrated a significant improvement in overall survival for patients with GIST at high risk of recurrence who were treated for 3 years. However, not all patients will benefit from adjuvant treatment. Considering the patient types in both trials, treatment decisions must take into account a number of factors including risk of recurrence and mutational status. Tumour characteristics including tumour size, location and mitotic index are the main prognostic factors of recurrence-free survival (RFS) after surgical resection of GISTs. Research, much of it in the advanced/metastatic setting, shows that mutational analysis is definitely predictive of treatment efficacy and probably prognostic of RFS. Patients on imatinib whose tumours harbour mutations in exon 11 of the KIT gene tend to have superior RFS compared with patients with exon 9 mutations. In contrast, patients with wild-type GIST often have disease that follows an indolent course and has limited sensitivity to imatinib in most cases. As such, increased use of existing risk-stratification schemes and mutational analysis will be essential for optimising tailored treatment approaches. In this review, the development and prognostic/predictive utility of key risk stratification tools and mutational analysis of GIST are discussed herein with the goal of facilitating adjuvant treatment decisions for patients with GIST.
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Li W, Cui Y, Ren G, Wang J, Wu X. Extragastrointestinal stromal tumor of the mesoappendix: CT findings and a review of the literature. World J Surg Oncol 2012; 10:211. [PMID: 23039908 PMCID: PMC3500718 DOI: 10.1186/1477-7819-10-211] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/17/2012] [Accepted: 09/26/2012] [Indexed: 01/16/2023] Open
Abstract
Background Gastrointestinal stromal tumors (GISTs) are nonepithelial, mesenchymal neoplasms that rarely occur in children. Case presentation We present a unique case of a GIST that developed outside the gastrointestinal tract within the mesoappendix of a 6-year old boy. Computed tomography (CT) revealed a slightly lobulated, homogeneous soft-tissue mass, with marked contrast enhancement. Conclusion This case study provides new insight into the CT appearance of extragastrointestinal stromal tumors.
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Affiliation(s)
- Wenhua Li
- Department of Radiology, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, 1665 Kong Jiang Road, Shanghai 200092, China.
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GAO FEI, DING LINGLING, ZHAO MIAOQING, QU ZHONGHUA, HUANG SHANYING, ZHANG LINING. The clinical significance of reduced programmed cell death 5 expression in human gastrointestinal stromal tumors. Oncol Rep 2012; 28:2195-9. [DOI: 10.3892/or.2012.2023] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/02/2012] [Accepted: 08/23/2012] [Indexed: 11/06/2022] Open
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Van Ness M, Gregg J, Wang J, Chen M. Genetics and molecular pathology of gastric malignancy: Development of targeted therapies in the era of personalized medicine. J Gastrointest Oncol 2012; 3:243-51. [PMID: 22943015 DOI: 10.3978/j.issn.2078-6891.2012.017] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/10/2012] [Accepted: 03/27/2012] [Indexed: 12/16/2022] Open
Abstract
Gastric malignancy constitutes a major cause of cancer deaths worldwide. Despite recent advances in surgical techniques combined with neoadjuvant chemotherapy and radiotherapy approaches, patients with advanced disease still have poor outcomes. An emerging understanding of the molecular pathways that characterize cell growth, cell cycle, apoptosis, angiogenesis, invasion and metastasis has provided novel targets in gastric cancer therapy. In this review, recent advances in the understanding of molecular tumorigenesis for common gastric malignancies are discussed. We also briefly review the current targeted therapies in the treatment of gastric malignancies. Practical insights are highlighted including HER2 testing and target therapy in gastric adenocarcinoma, morphologic features and molecular signatures of imatinib-resistance GISTs, and recent investigations aimed at tumor-specific therapy for neuroendocrine tumors.
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Tan CB, Zhi W, Shahzad G, Mustacchia P. Gastrointestinal stromal tumors: a review of case reports, diagnosis, treatment, and future directions. ISRN GASTROENTEROLOGY 2012; 2012:595968. [PMID: 22577569 PMCID: PMC3332214 DOI: 10.5402/2012/595968] [Citation(s) in RCA: 43] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 01/13/2012] [Accepted: 02/05/2012] [Indexed: 12/13/2022]
Abstract
Gastrointestinal stromal tumor (GIST) is a nonepithelial, mesenchymal tumor first described by Mazur and Clark in 1983. Since then, its molecular biology has been studied in great detail. Special interest in the role of tyrosine kinase in its regulation has been the target by different drug research. Mutation in c-kit exons 9, 11, 13, 17 and PDGFRA mutation in exons 12, 14, 18 are responsible for activation of gene signaling system resulting in uncontrolled phosphorylation and tissue growth. However, 5 to 15% of GISTs does not harbor these mutations, which raises additional questions in another alternate signaling pathway mutation yet to be discovered. Diagnosis of GISTs relies heavily on KIT/CD117 immunohistochemical staining, which can detect most GISTs except for a few 3% to 5% that harbors PDGFRA mutation. Newer staining against PKC theta and DOG-1 genes showed promising results but are not readily available. Clinical manifestation of GISTs is broad and highly dependent on tumor size. Surgery still remains the first-line treatment for GISTs. The advancement of molecular biology has revolutionized the availability of newer drugs, Imatinib and Sunitinib. Together with its advancement is the occurrence of Imatinib/Sunitinib drug resistance. With this, newer monoclonal antibody drugs are being developed and are undergoing clinical trials to hopefully improve survival in patients with GISTs.
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Affiliation(s)
- Christopher B Tan
- Department of Internal Medicine, Nassau University Medical Center, East Meadow, NY 11554, USA
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Intratumoral heterogeneity of F-18 FDG uptake differentiates between gastrointestinal stromal tumors and abdominal malignant lymphomas on PET/CT. Ann Nucl Med 2011; 26:222-7. [PMID: 22187313 DOI: 10.1007/s12149-011-0562-3] [Citation(s) in RCA: 36] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/10/2011] [Accepted: 11/23/2011] [Indexed: 01/01/2023]
Abstract
OBJECTIVE Gastrointestinal stromal tumors (GISTs) and malignant lymphomas (MLs) in the abdomen are often observed as tumors of unknown origin on F-18 FDG PET/CT. The purpose of this study was to evaluate the intratumoral metabolic heterogeneity of F-18 FDG uptake on PET to determine if it might be helpful to discriminate between these tumors. METHODS The F-18 FDG PET/CT findings of 21 large abdominal tumors were retrospectively evaluated (9 GISTs and 12 MLs). Intratumoral heterogeneity was evaluated by visual scoring (visual score: 0, homogeneous; 1, slightly heterogeneous; 2, moderately heterogeneous; 3, highly heterogeneous) and by the cumulative standardized uptake value (SUV) histograms on transaxial PET images at the maximal cross-sectional tumor diameter. Percent tumor areas above a threshold from 0 to 100% of the maximum SUV were plotted and the area under curve of the cumulative SUV histograms (AUC-CSH) was used as a heterogeneity index, where lower values corresponded with increased heterogeneity. Correlation between the visual score and the AUC-CSH was investigated by the Spearman's rank test. RESULTS GISTs exhibited heterogeneous uptake of F-18 FDG, whereas MLs showed rather homogeneous uptake on visual analysis (visual score: 2.67 ± 0.50 and 0.58 ± 0.79, respectively; p < 0.001). The AUC-CSH was significantly lower for the GISTs than for the MLs (0.41 ± 0.14 and 0.64 ± 0.08, respectively; p < 0.001). Significant correlations were observed between the visual score and the AUC-CSH (ρ = -0.866, p < 0.001). CONCLUSION GISTs exhibited significantly heterogeneous intratumoral tracer uptake as compared with the MLs. Evaluation of the intratumoral heterogeneity of F-18 FDG uptake may help in the discrimination between these tumors.
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Womac DJ, Shah SA, Morgan KA. Incidental Discovery of a Gastrointestinal Stromal Tumor. Am Surg 2011. [DOI: 10.1177/000313481107701220] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
Affiliation(s)
- Daniel J. Womac
- Medical University of South Carolina Charleston, South Carolina
| | - Sonam A. Shah
- Medical University of South Carolina Charleston, South Carolina
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Ksienski D. Imatinib mesylate: past successes and future challenges in the treatment of gastrointestinal stromal tumors. Clin Med Insights Oncol 2011; 5:365-79. [PMID: 22174597 PMCID: PMC3235999 DOI: 10.4137/cmo.s4259] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
Just over a decade ago, gastrointestinal tumours were a poorly understood mesenchymal neoplasm unsuccessfully treated with chemotherapy. Cytotoxic therapy for advanced disease yielded response rates of 10% and median survival of just 18 months. However, the discovery of KIT and platelet derived growth factor receptor alpha (PDGFRA) mutations as oncogenic drivers of most gastrointestinal tumours, paved the way for targeted therapy. Imatinib mesylate, a tyrosine kinase inhibitor, produces a clinical benefit rate (complete response, partial response, and stable disease) of more than 80% in metastatic setting and a median survival of 57 months. Imatinib is now also approved in adult patients following resection of KIT-positive GIST. Major insights into the mechanism of action of imatinib, unique pharmacokinetics, drug resistance, and management of low grade but chronic adverse effects continue to be made.
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Affiliation(s)
- Doran Ksienski
- Medical Oncologist, Victoria Island Cancer Center, Victoria, British Columbia, Canada, 2410 Lee Avenue V8R 6V5
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Rocco EG, Iannuzzi F, Dell'Era A, Falleni M, Moneghini L, Di Nuovo F, Braidotti P, Bulfamante G, Romagnoli S. Schwann cell hamartoma: case report. BMC Gastroenterol 2011; 11:68. [PMID: 21663626 PMCID: PMC3123296 DOI: 10.1186/1471-230x-11-68] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/22/2011] [Accepted: 06/10/2011] [Indexed: 12/20/2022] Open
Abstract
Background Colorectal polyps of mesenchymal origin represent a small percentage of gastrointestinal (GI) lesions. Nevertheless, they are encountered with increasing frequency since the widespread adoption of colonoscopy screening. Case presentation We report a case of a small colonic polyp that presented as intramucosal diffuse spindle cell proliferation with a benign cytological appearance, strong and diffuse immunoreactivity for S-100 protein, and pure Schwann cell phenotype. Careful morphological, immunohistochemical and clinical evaluation emphasize the differences from other stromal colonic lesions and distinguish it from schwannoma, a circumscribed benign nerve sheath tumor that rarely arises in the GI tract. Conclusion As recently proposed, this lesion was finally described as mucosal Schwann cell hamartoma.
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Affiliation(s)
- Elena Guerini Rocco
- Department of Medicine, Surgery and Dentistry, Division of Pathology, A,O, San Paolo and Fondazione IRCCS Cà-Granda Ospedale Maggiore Policlinico, University of Milan Medical School, Milan, Italy
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Brandal P, Teixeira MR, Heim S. Genotypic and phenotypic classification of cancer: How should the impact of the two diagnostic approaches best be balanced? Genes Chromosomes Cancer 2010; 49:763-74. [PMID: 20607708 DOI: 10.1002/gcc.20792] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022] Open
Abstract
Neoplastic tumors are traditionally named based on their differentiation (i.e., which normal cells and tissues they resemble) and bodily site. In recent years, knowledge about the genetic basis of tumorigenesis has grown rapidly, and the new information has in several instances been incorporated into the very definition of cancerous entities. The proper contribution of the diseases' phenotype and genotype to what they are called and how they are delineated from one another has rarely been subjected to explicit reasoning, however, nor is it often made clear whether existing naming practices are founded on ontological or utilitarian grounds. We look at several examples of how the new cytogenetic and molecular genetic understanding of tumorigenesis has impacted oncological nomenclature in a significant manner, but also at counterexamples where no similar change has taken place. In all likelihood, more and more neoplastic diseases will in the future be defined and named based on their pathogenesis rather than their phenotype, not least because effective and specific drug therapies directed against the molecular change at the very heart of oncogenesis will increasingly become available. The fact that this shift in emphasis is primarily guided by utilitarian considerations rather than any perception of acquired genetic changes as somehow being more ontologically "profound" or "important" in tumorigenesis, is as it should be; both the phenotype and the genotype of tumors are key parameters across most of oncology and are likely to be retained as the basis of coexisting disease classifications for as long as we can foresee.
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Affiliation(s)
- Petter Brandal
- Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Montebello, Oslo, Norway.
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