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Malone MAV, Castillo DAA, Santos HT, Kaur A, Elrafei T, Steinberg L, Kumar A. A systematic review of the literature on localized gastrointestinal tract amyloidosis: Presentation, management and outcomes. Eur J Haematol 2024; 113:400-415. [PMID: 39030954 DOI: 10.1111/ejh.14269] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/11/2022] [Revised: 06/22/2024] [Accepted: 06/25/2024] [Indexed: 07/22/2024]
Abstract
PURPOSE Localized gastrointestinal tract amyloidosis is uncommon and little is known regarding this entity. There is no current standard of care for the management of localized amyloidosis. The objective of this study was to evaluate the characteristics, available treatments, outcomes and surveillance of these patients. METHODS We conducted a systematic review of cases reported in the literature from 1962 to 2021. Patients with gastrointestinal amyloidosis reported in English literature were included in the analysis. We described and summarized the patient's characteristics, treatments, clinical presentations, outcomes and surveillance. RESULTS The systematic review of reported clinical cases included 62 patients. In these patients, the most common site of amyloid deposition was the stomach (42%). The median age of diagnosis is 64.4 years old; there is a 2:1 prevalence among males (63%) to females (37%); abdominal pain is the most common type of presentation (41%), although patients could also be asymptomatic. There is a high curative rate (100%) with resection alone. Among patients treated with a type of systemic therapy, 80% achieved a complete response. The minority of cases reported a type of surveillance post treatment, and among those 62% pursued serial clinical evaluations alone. CONCLUSION To our knowledge, this is the first and largest systematic review of the literature in gastrointestinal tract amyloidosis. This is more common among males and seems to have an excellent curative rate (100%) with surgery alone. Systemic therapy is an option for those with non-resectable amyloidomas. Serial clinical evaluations should be part of the standard surveillance care in these patients.
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Affiliation(s)
| | | | - Heitor Tavares Santos
- Department of Medicine, Division of Internal Medicine, Albert Einstein College of Medicine, Bronx, New York, USA
| | - Anahat Kaur
- Department of Medicine, Division of Oncology and Hematology, Albert Einstein College of Medicine, Bronx, New York, USA
| | - Tarek Elrafei
- Department of Medicine, Division of Oncology and Hematology, Albert Einstein College of Medicine, Bronx, New York, USA
| | - Lewis Steinberg
- Department of Medicine, Division of Oncology and Hematology, Albert Einstein College of Medicine, Bronx, New York, USA
| | - Abhishek Kumar
- Department of Medicine, Division of Oncology and Hematology, Albert Einstein College of Medicine, Bronx, New York, USA
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2
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Khalil G, Fiani D, Antaki F, Diab E. Primary gastric amyloidosis associated with linitis plastica and delayed progression to systemic amyloidosis and multiple myeloma. BMJ Case Rep 2023; 16:e252786. [PMID: 37247951 PMCID: PMC10230937 DOI: 10.1136/bcr-2022-252786] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/31/2023] Open
Abstract
We report the case of a woman in her 50s who underwent, 5 years prior, a total gastrectomy after neoadjuvant chemotherapy for diffuse-type gastric cancer diagnosed during a workup for isolated gastric primary light chain (AL) amyloidosis. At the time of diagnosis, immunoglobulins light chain measurements and bone marrow biopsy were performed to rule out multiple myeloma and came back normal. Three years later, the patient developed systemic amyloidosis involving the heart and the lungs, after which she developed multiple myeloma. Isolated amyloid deposits in the stomach are a rare finding. While AL amyloidosis is frequently found in concomitance with multiple myeloma, late progression of primary AL amyloidosis to systemic amyloidosis and multiple myeloma is uncommon.
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Affiliation(s)
- Georges Khalil
- Department of Internal Medicine, Saint John Hospital, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon
| | - Dimitri Fiani
- Department of Internal Medicine, Universite Saint-Joseph Faculte de medecine, Beirut, Lebanon
| | - Fares Antaki
- Ophthalmology, Centre Hospitalier Universitaire de l'Universite de Montreal, Montreal, Quebec, Canada
| | - Ernest Diab
- Department of Hematology-Oncology, Universite Saint-Joseph Faculte de medecine, Beirut, Lebanon
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3
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Gomes ILC, Carlos ADS, Kum AST, Bestetti AM, de Moura EGH. Pseudotumoral Amyloidosis Presentation With Upper Digestive Bleeding. Cureus 2023; 15:e39094. [PMID: 37332419 PMCID: PMC10270430 DOI: 10.7759/cureus.39094] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 05/16/2023] [Indexed: 06/20/2023] Open
Abstract
Amyloidosis is a condition related to the extracellular deposition of abnormal fibrillar proteins. Gastric involvement may present as a systemic or localized form of the disease. The endoscopic presentation can vary from nodular, ulcerated, or infiltrative lesions. Clinical manifestations are nonspecific, including hyporexia, nausea, vomiting, weight loss, epigastralgia, and abdominal discomfort. Thus, amyloidosis can clinically and endoscopically mimic other diseases, such as neoplasms, syphilis, tuberculosis, and Crohn's disease, requiring a high suspicion. When it manifests with gastrointestinal bleeding, it most commonly occurs as intermittent melena. This report aims to present an unusual case of a patient with upper gastrointestinal bleeding exteriorized through melena secondary to amyloidosis with gastric involvement.
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Affiliation(s)
| | | | - Angelo So Taa Kum
- Gastroenterology, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, BRA
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4
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Oh GM, Park SJ, Kim JH, Jung K, Kim SE, Moon W, Park MI, Chang HK. Localized gastric amyloidosis successfully treated with endoscopic submucosal dissection: A case report. Medicine (Baltimore) 2021; 100:e28422. [PMID: 34941190 PMCID: PMC8702132 DOI: 10.1097/md.0000000000028422] [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] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/11/2021] [Revised: 12/06/2021] [Accepted: 12/06/2021] [Indexed: 11/30/2022] Open
Abstract
RATIONALE Amyloidosis is a general term that refers to the extracellular deposition of amyloid. The amyloid can also be deposited in a single organ. However, cases of localized gastric amyloidosis have rarely been reported. Here, we report a case of localized gastric amyloidosis that was successfully treated with endoscopic submucosal dissection. PATIENT CONCERN A 60-years-old man underwent esophagogastroduodenoscopy as part of a regular check-up without any comorbidities or symptoms. DIAGNOSTICS A 12 mm-sized, round, elevated lesion with a central depression, which was covered with normal mucosa, and located on the greater curvature of the lower body of the stomach was discovered during endoscopy. Subsequently, endoscopic ultrasonography was performed, which revealed a 11.7 mm-sized, hypoechoic, heterogeneous lesion located in the muscularis mucosa and submucosa. A biopsy was performed, and amyloid deposition was confirmed. Although other investigations for checking systemic amyloidosis were performed, there were no specific findings. Therefore, the final diagnosis was localized gastric amyloidosis. INTERVENTIONS Endoscopic submucosal dissection was performed according to the patient's request and the lesion was completely removed. OUTCOMES The patient was followed-up for 3 years without any recurrence. CONCLUSIONS Endoscopic submucosal dissection can be good diagnostic and treatment option for localized gastric amyloidosis.
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Affiliation(s)
- Gyu Man Oh
- Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea
| | - Seun Ja Park
- Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea
| | - Jae Hyun Kim
- Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea
| | - Kyoungwon Jung
- Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea
| | - Sung Eun Kim
- Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea
| | - Won Moon
- Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea
| | - Moo In Park
- Department of Internal Medicine, Kosin University College of Medicine, Busan, Korea
| | - Hee-Kyung Chang
- Department of Pathology, Kosin University College of Medicine, Busan, Korea
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5
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Lin XY, Pan D, Sang LX, Chang B. Primary localized gastric amyloidosis: A scoping review of the literature from clinical presentations to prognosis. World J Gastroenterol 2021; 27:1132-1148. [PMID: 33828390 PMCID: PMC8006099 DOI: 10.3748/wjg.v27.i12.1132] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/29/2020] [Revised: 01/10/2021] [Accepted: 02/24/2021] [Indexed: 02/06/2023] Open
Abstract
Localized gastric amyloidosis (LGA) is a rare disease characterized by abnormal extracellular deposition of amyloid protein restricted to the stomach and it is confirmed by positive results of Congo red staining. Over decades, only a few cases have been reported and studies or research focusing on it are few. Although LGA has a low incidence, patients may suffer a lot from it and require proper diagnosis and management. However, the pathology of LGA remains unknown and no overall review of LGA from its presentations to its prognosis has been published. Patients with LGA are often asymptomatic or manifest atypical symptoms, making it difficult to differentiate from other gastrointestinal diseases. Here, we report the case of a 70-year-old woman with LGA and provide an overview of case reports of LGA available to us. Based on that, we conclude current concepts of clinical manifestations, diagnosis, treatment, and prognosis of LGA, aiming at providing a detailed diagnostic procedure for clinicians and promoting the guidelines of LGA. In addition, a few advanced technologies applied in amyloidosis are also discussed in this review, aiming at providing clinicians with a reference of diagnostic process. With this review, we hope to raise awareness of LGA among the public and clinicians.
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Affiliation(s)
- Xin-Yu Lin
- Department of Neurology, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
| | - Dan Pan
- Department of Geriatrics, The First Affiliated Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
| | - Li-Xuan Sang
- Department of Geriatrics, The First Affiliated Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
| | - Bing Chang
- Department of Gastroenterology, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China
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6
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Takahashi Y, Hatta W, Koike T, Ogata Y, Fujiya T, Saito M, Jin X, Nakagawa K, Kanno T, Asanuma K, Uno K, Asano N, Imatani A, Fujishima F, Katoh N, Yoshinaga T, Masamune A. Localized Gastric Amyloidosis that Displayed Morphological Changes over 10 Years of Observation. Intern Med 2021; 60:539-543. [PMID: 32999220 PMCID: PMC7946503 DOI: 10.2169/internalmedicine.5031-20] [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] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/06/2020] [Accepted: 08/17/2020] [Indexed: 11/30/2022] Open
Abstract
We herein report an extremely rare case of localized gastric amyloidosis (LGA) with morphological changes during the follow-up. A 71-year-old woman who had a depressed lesion with central elevation in the gastric lower body was diagnosed with LGA. Esophagogastroduodenoscopy at 10 years after the initial examination showed that the lesion had grown and changed morphologically, exhibiting a submucosal tumor-like appearance. Since the lesion was confined to the submucosa, the patient underwent endoscopic submucosal dissection. The final pathological diagnosis was amyloid light-chain (AL)-type LGA. This case may provide useful information regarding the natural history of AL-type LGA.
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Affiliation(s)
- Yasushi Takahashi
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Waku Hatta
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Tomoyuki Koike
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Yohei Ogata
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Taku Fujiya
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Masahiro Saito
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Xiaoyi Jin
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Kenichiro Nakagawa
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Takeshi Kanno
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Kiyotaka Asanuma
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Kaname Uno
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Naoki Asano
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Akira Imatani
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
| | - Fumiyoshi Fujishima
- Department of Pathology, Tohoku University Graduate School of Medicine, Japan
| | - Nagaaki Katoh
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
| | - Tsuneaki Yoshinaga
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
| | - Atsushi Masamune
- Division of Gastroenterology, Tohoku University Graduate School of Medicine, Japan
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7
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Kagawa M, Fujino Y, Muguruma N, Murayama N, Okamoto K, Kitamura S, Kimura T, Kishi K, Miyamoto H, Uehara H, Takayama T. Localized amyloidosis of the stomach mimicking a superficial gastric cancer. Clin J Gastroenterol 2016; 9:109-113. [PMID: 27170299 DOI: 10.1007/s12328-016-0651-x] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/15/2016] [Accepted: 05/01/2016] [Indexed: 01/22/2023]
Abstract
A 73-year-old man was referred to our hospital for further examination of a depressed lesion in the stomach found by cancer screening gastroscopy. A barium upper gastrointestinal series showed an area of irregular mucosa measuring 15 mm on the anterior wall of the gastric body. Esophagogastroduodenoscopy revealed a 15 mm depressed lesion on the anterior wall of the lower gastric body. We suspected an undifferentiated adenocarcinoma from the appearance and took some biopsies. However, histology of the specimens revealed amyloidal deposits in the submucosal layer without malignant findings. Congo red staining was positive for amyloidal protein and green birefringence was observed under polarized light microscopy. Congo red staining with prior potassium permanganate incubation confirmed the light chain (AL) amyloid type. There were no amyloid deposits in the colon or duodenum. Computed tomography of the chest, abdomen, and pelvis showed no remarkable findings. Thus, this case was diagnosed as a localized gastric amyloidosis characterized by AL type amyloid deposition in the mucosal or submucosal layer. As the clinical outcome of gastric AL amyloidosis seems favorable, this case is scheduled for periodic examination to recognize potential disease progression and has been stable for 2 years.
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Affiliation(s)
- Miwako Kagawa
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
| | - Yasuteru Fujino
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
| | - Naoki Muguruma
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
| | - Noriaki Murayama
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
| | - Koichi Okamoto
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
| | - Shinji Kitamura
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
| | - Tetsuo Kimura
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
| | - Kazuhiro Kishi
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
| | - Hiroshi Miyamoto
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
| | - Hisanori Uehara
- Department of Pathology and Laboratory Medicine, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan
| | - Tetsuji Takayama
- Department of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan.
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8
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Klenke FM, Wirtz C, Banz Y, Keel MJB, Klass ND, Novak U, Benneker LM. Multiple myeloma-associated amyloidoma of the sacrum: case report and review of the literature. Global Spine J 2014; 4:109-14. [PMID: 25061549 PMCID: PMC4078136 DOI: 10.1055/s-0033-1360724] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/25/2013] [Accepted: 09/24/2013] [Indexed: 11/12/2022] Open
Abstract
Study Design Case report. Objectives With only two previously reported cases, localized amyloidosis of the sacrum is extremely rare. Here we report a 64-year-old woman with a large osteolytic lesion accompanied by weakness and paresthesia of the right leg and difficulties in bladder control. Methods Fine needle biopsy and standard staging procedures revealed a primary solitary amyloidoma that was treated with intralesional resection, lumbopelvic stabilization, and consolidation radiotherapy. Results Clinical follow-up revealed the diagnosis of multiple myeloma 9 months after initial treatment. At 12 months, no local recurrence has occurred, the neurologic symptoms have resolved, and the systemic disease is in remission. Conclusions Intralesional resection with adjuvant radiotherapy of the amyloidoma achieved good local tumor control with limited morbidity.
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Affiliation(s)
- F. M. Klenke
- Department of Orthopaedic Surgery, Inselspital, Bern University Hospital, Bern, Switzerland,Address for correspondence Frank M. Klenke, MD, PhD Department of Orthopaedic Surgery, InselspitalBern University Hospital, Freiburgstrasse, CH-3010 BernSwitzerland
| | - C. Wirtz
- Department of Orthopaedic Surgery, Inselspital, Bern University Hospital, Bern, Switzerland
| | - Y. Banz
- Institute of Pathology, University of Bern, Bern, Switzerland
| | - M. J. B. Keel
- Department of Orthopaedic Surgery, Inselspital, Bern University Hospital, Bern, Switzerland
| | - N. D. Klass
- Department of Radiation Oncology, Inselspital, Bern University Hospital, Bern, Switzerland
| | - U. Novak
- Department of Medical Oncology, Inselspital, Bern University Hospital, Bern, Switzerland
| | - L. M. Benneker
- Department of Orthopaedic Surgery, Inselspital, Bern University Hospital, Bern, Switzerland
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9
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Kamata T, Suzuki H, Yoshinaga S, Nonaka S, Fukagawa T, Katai H, Taniguchi H, Kushima R, Oda I. Localized gastric amyloidosis differentiated histologically from scirrhous gastric cancer using endoscopic mucosal resection: a case report. J Med Case Rep 2012; 6:231. [PMID: 22863214 PMCID: PMC3438062 DOI: 10.1186/1752-1947-6-231] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2012] [Accepted: 04/18/2012] [Indexed: 11/28/2022] Open
Abstract
Introduction Amyloidosis most often manifests as a systemic involvement of multiple tissues and organs, and an amyloidal deposit confined to the stomach is extremely rare. It is sometimes difficult to provide a definitive diagnosis of localized gastric amyloidosis by biopsy specimen and diagnosis of amyloidosis in some cases has been finalized only after surgical resection of the stomach. Case presentation A 76-year-old Japanese woman with epigastric discomfort underwent an esophagogastroduodenoscopy procedure. The esophagogastroduodenoscopy revealed gastric wall thickening, suggesting scirrhous gastric carcinoma, at the greater curvature from the upper to the lower part of the gastric corpus. A biopsy specimen revealed amyloid deposits in the submucosal layer with no malignant findings. We resected a representative portion of the lesion by endoscopic mucosal resection using the strip biopsy method to obtain sufficient tissue specimens, and then conducted a detailed histological evaluation of the samples. The resected specimens revealed deposition of amyloidal materials in the gastric mucosa and submucosa without any malignant findings. Congo red staining results were positive for amyloidal protein and exhibited green birefringence under polarized light. Congo red staining with prior potassium permanganate incubation confirmed the light chain (AL) amyloid protein type. Based on these results, gastric malignancy, systemic amyloidosis and amyloid deposits induced by inflammatory disease were excluded and this lesion was consequently diagnosed as localized gastric amyloidosis. Our patient was an older woman and there were no findings relative to an increase in gastrointestinal symptoms or anemia, so no further treatment was performed. She continued to be in good condition without any finding of disease progression six years after verification of our diagnosis. Conclusions We report an unusual case of primary amyloidosis of the stomach resembling scirrhous gastric carcinoma. This case of localized gastric amyloidosis was differentiated from scirrhous gastric cancer after performing endoscopic mucosal resection without an invasive surgical resection, as endoscopic mucosal resection provided sufficient tissue specimens from the lesion to make an accurate histological evaluation.
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Affiliation(s)
- Tsugumasa Kamata
- Endoscopy Division, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
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10
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Wiegel NM, Mentele R, Kellermann J, Meyer L, Riess H, Linke RP. ALkappa(I) (UNK) - primary structure of an AL-amyloid protein presenting an organ-limited subcutaneous nodular amyloid syndrome of long duration. Case report and review. Amyloid 2010; 17:10-23. [PMID: 20146644 DOI: 10.3109/13506121003619328] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]
Abstract
Slowly progressing subcutaneous nodules all over the body were detected in 1994 in an otherwise healthy, now 66-year-old woman (UNK). A first biopsy was taken 10 years ago and revealed amyloid. Immunohistochemistry was suggestive for ALkappa. From a nodular excisate, performed in the same year for cosmetic reasons, amyloid fibrils were extracted. Protein separation according to their size revealed multiple protein fragments below the MW of an intact kappa-light chain. They were identified as kappa-fragments by Western blotting. The kappa-fragments were cleaved into overlapping peptides using tryptic, N-Asp and chymotryptic digests. Peptides were sequenced by Edman-degradation and mass spectrometry. The complete amino acid sequence of the variable region and most of the constant region of ALkappa (UNK) was identified in various fragments comprising positions 1 to 207 of a monoclonal kappa(I)-light chain. Four novel and several rare amino acid exchanges have been identified as compared to 17 amyloidogenic and >100 non-amyloidogenic kappa(I)-sequences published, leading to increased hydrophobicity of ALkappa (UNK). Sequence analysis of C-region peptides allowed one to determine the kappa-allotype as being invb(+). A rabbit antibody was produced against ALkappa(I) (UNK). It strongly reacted with amyloid on formalin-fixed paraffin embedded tissue sections of the same patient and detected ALkappa-amyloid of many other patients. In contrast, antibodies produced against kappaBJP of subclasses kappa(I)-kappa(IV) failed to label ALkappa (UNK) amyloid deposits. The patient continues to be free of systemic disease, already for 14 years until today.
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11
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Koczka CP, Goodman AJ. Gastric amyloidoma in patient after remission of Non-Hodgkin’s Lymphoma. World J Gastrointest Oncol 2009; 1:93-6. [PMID: 21160781 PMCID: PMC2999100 DOI: 10.4251/wjgo.v1.i1.93] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/03/2009] [Revised: 04/18/2009] [Accepted: 04/25/2009] [Indexed: 02/05/2023] Open
Abstract
Amyloidosis is commonly systemic, occasionally organ-limited, and rarely a solitary localized mass. The latter, commonly referred to as tumoral amyloidosis, is described as occurring in nearly every organ/tissue. Only a few reports of gastric amyloidosis exist today. We describe a 72 year-old black male from Barbados presenting with 3 d of diffuse abdominal pain. His medical history included Non-Hodgkin’s Lymphoma diagnosed five years ago, status-post six rounds of cyclophosphamide, adriamycin, vincristine, prednisone chemotherapy, and currently was in remission. On computed tomography scan of the abdomen, thickening and calcification of the gastric wall was noted along with pneumatosis. On esophagogastroduodenoscopy, a large circumferential friable mass was seen from the gastroesophageal junction to the body. A large non-bleeding 3 cm polyp was also seen in post bulbar area of duodenum. Biopsies were stained with Congo red and gave green birefringence under polarized light, consistent with tumoral amyloidosis. Positron emission tomography scan revealed diffuse gastric mucosa uptake compatible with gastric malignancy without metastatic foci. Treatment for gastric amyloidomas has presently been one of observation or, at most, resection of the amyloid mass. It is not known if our patient required the same approach or if this warranted the re-institution of chemotherapy for Non-Hodgkin’s Lymphoma. Until more reports of tumoral amyloidosis are made known, treatment as well as prognosis remain uncertain.
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Affiliation(s)
- Charles Philip Koczka
- Charles Philip Koczka, Adam J Goodman, Department of Medicine, SUNY Downstate Medical Center, Brooklyn, NY 11203, United States
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12
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Björnsson S, Jóhannsson JH, Sigurjónsson F. Localized primary amyloidosis of the stomach presenting with gastric hemorrhage. ACTA MEDICA SCANDINAVICA 2009; 221:115-9. [PMID: 3494384 DOI: 10.1111/j.0954-6820.1987.tb01252.x] [Citation(s) in RCA: 32] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/06/2023]
Abstract
We report a patient with localized, primary gastric amyloidosis, who presented with recurrent hematemesis, a rare presentation for an unusual disease. The patient was initially thought to have stomach cancer because of the X-ray and gastroscopic appearance of the gastric mucosa, but was eventually found to have primary amyloidosis confined to the stomach and regional lymph nodes. The amyloid was found to be of immunoglobulin origin, AL amyloid. Other reports of localized gastric amyloidosis are reviewed and compared with the present case. Most of the patients were clinically suspected of gastric carcinoma, and only one had hematemesis. We propose that amyloidosis should be considered in the differential diagnosis of hematemesis and gastric tumors.
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13
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Abstract
We report a case of localized jejunal amyloidosis occurring in a 74-year-old man who experienced an episode of digestive bleeding while he was receiving oral anticoagulation. It illustrates a rare entity, characterized by an endoscopic aspect of polypoid, pseudotumoral formations. Histologically, submucosal connective tissues, muscularis mucosae, and blood vessel walls are massively infiltrated by amyloid, giving a typical red/green birefringence under polarized light.
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Affiliation(s)
- M O Peny
- Department of Pathology, Erasme University Hospital, Brussels, Belgium
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14
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Goteri G, Ranaldi R, Pileri SA, Bearzi I. Localized amyloidosis and gastrointestinal lymphoma: a rare association. Histopathology 1998; 32:348-55. [PMID: 9602332 DOI: 10.1046/j.1365-2559.1998.00409.x] [Citation(s) in RCA: 20] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
Abstract
AIMS Five cases of primary gastrointestinal (GI) lymphoma (three in the stomach, one in the ileum (IPSID) and one in the colon) associated with localized AL amyloidosis were studied to identify morphological or immunohistochemical features which could explain the amyloid deposition. METHODS AND RESULTS All the cases were low-grade marginal zone B-cell lymphomas; one case of gastric lymphoma and the IPSID also had a high-grade component. The lymphomas had a monoclonal plasma cell population, with different light and heavy-chain type expression in the five cases. Plasma cell differentiation was closely associated with the amyloid deposits. The latter were an incidental microscopic finding in one case, but produced tumoral masses in the other. CONCLUSIONS The presence of amyloid in primary GI lymphoma is rare, but can have diagnostic value. In the present study, neither particular features of the lymphomatous proliferation nor specific agents are identified. Therefore, the factors predisposing to amyloid deposition require elucidation.
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Affiliation(s)
- G Goteri
- Institute of Pathological Anatomy and Histopathology, University of Ancona, Italy
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15
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Röcken C, Saeger W, Linke RP. Gastrointestinal amyloid deposits in old age. Report on 110 consecutive autopsical patients and 98 retrospective bioptic specimens. Pathol Res Pract 1994; 190:641-9. [PMID: 7808962 DOI: 10.1016/s0344-0338(11)80742-9] [Citation(s) in RCA: 20] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/27/2023]
Abstract
The prevalence of gastrointestinal amyloid was determined in 110 consecutive autopsy patients aged 85 years and older. Paraffin sections from the esophagus, stomach, small intestine, colon and rectum were stained with Congo red and inspected in polarized light. Amyloid was found in 38 patients (36%). Four patients had generalized amyloidosis and the remaining 34 revealed more localized varieties of amyloid. Immunohistochemical classification with a panel of antisera directed against five major amyloid fibril proteins displayed at least four different types of amyloid. Twenty cases exhibited amyloid of transthyretin origin, five cases were of lambda light chain origin and one case was of amyloid A-type. Thus far, unclassifiable amyloid deposits were found in 18 cases, 16 of which were strictly localized in subserosal veins. This consecutive autopsy series was compared with 98 randomly-selected bioptical gastrointestinal tissues with amyloid according to distribution pattern, sex, frequency of the various types of amyloid and associated diseases.
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Affiliation(s)
- C Röcken
- Department of Pathology, Marienkrankenhaus, Hamburg, Germany
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16
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Yanai H, Fuji T, Tada M, Aibe T, Karita M, Fujimura H, Okita K, Uchino F. Localized amyloidosis of the stomach. Gastrointest Endosc 1991; 37:408-9. [PMID: 2071007 DOI: 10.1016/s0016-5107(91)70758-x] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
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17
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Tada S, Iida M, Iwashita A, Matsui T, Fuchigami T, Yamamoto T, Yao T, Fujishima M. Endoscopic and biopsy findings of the upper digestive tract in patients with amyloidosis. Gastrointest Endosc 1990; 36:10-4. [PMID: 2311879 DOI: 10.1016/s0016-5107(90)70913-3] [Citation(s) in RCA: 118] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/08/2023]
Abstract
Endoscopic and biopsy findings of the esophagus, stomach, duodenum, and colorectum were studied in 37 patients with amyloidosis involving the gastrointestinal tract. Endoscopic examinations revealed fine granular appearance, polypoid protrusions, erosions, ulcerations, and mucosal friability in many cases. These findings were most marked and noticed most often in the second portion of the duodenum. The frequency of amyloid deposition in the biopsy specimens was as follows; 100% in the duodenum, 95% in the stomach, 91% in the colorectum, and 72% in the esophagus. The degree of amyloid deposition in the duodenum, which was the highest of the entire gastrointestinal tract, significantly correlated with the frequency of endoscopic findings such as fine granular appearance and polypoid protrusions. Therefore, the two endoscopic findings described above are characteristic of this disease and may reflect amyloid deposition in the mucosa or submucosa of the alimentary tract. Our results indicate that for a diagnosis of amyloidosis, it is important to examine the upper gastrointestinal tract, especially the duodenum, using endoscopy and biopsy techniques.
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Affiliation(s)
- S Tada
- Second Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan
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18
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Balázs M. Amyloidosis of the stomach. Report of a case with ultrastructure. VIRCHOWS ARCHIV. A, PATHOLOGICAL ANATOMY AND HISTOLOGY 1981; 391:227-40. [PMID: 7194538 DOI: 10.1007/bf00437599] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/24/2023]
Abstract
The author reports on a rare case of local amyloidosis (amyloid tumour) of the stomach. The first electron-microscopic study of such case was performed by her. She observed a large number of microfilaments in the mucus producing cells of the stomach mucosa, and assumed this to be indicative of a pathologic mucus secretion. The epithelial cells involved also changes indicating the disorder of protein secretion. She treats in detail the electron-microscopic characteristics of cellular elements found in amyloid. The closest relationship to amyloid deposits was shown by myofibroblasts. They probably play an important role in the formation of local amyloid.
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