Abstract
This review of 76 gastrointestinal (GI) leiomyosarcoma (LMS) cases that include 11 cases from the American University of Beirut Medical Center represents, to our knowledge, the largest number of combined GI LMS cases reported. The age range of GI LMS is variable, and the presentation is non-specific, making pathological diagnosis essential. LMSs usually lack CD117 and CD 34 mutations and are usually positive for smooth muscle cell markers. The review highlights surgery as the mainstay of treatment with negative margins attained most of the times. Adjuvant chemotherapy is used in around 7–27 % of the cases mainly for small intestinal and colorectal LMS. The relatively small number of patients is a limitation on outcome analysis. However, LMS has a risk of recurrence reaching 39–80 % and secondary metastasis reaching 55–71 % in small intestinal and colorectal cases. In light of the high frequency of recurrence and metastasis, enrolling patients in clinical randomized trials to investigate the role of chemotherapy, radiation therapy, and targeted therapy is required for better control of this rare aggressive GI tumor.
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References
Kumar V, Abbas AK, Fausto NMR. Robbins basic pathology, vol. 8. Philadelphia: Elsevier; 2007.
Evans HL, Chawla SP, Simpson C, Finn KP. Smooth muscle neoplasms of the uterus other than ordinary leiomyoma. A study of 46 cases, with emphasis on diagnostic criteria and prognostic factors. Cancer. 1988;62:2239–47.
Agaimy A, Wunsch PH. True smooth muscle neoplasms of the gastrointestinal tract: morphological spectrum and classification in a series of 85 cases from a single institute. Langenbecks Arch Surg. 2007;392:75–81.
Greenson JK. Gastrointestinal stromal tumors and other mesenchymal lesions of the gut. Mod Pathol Off J U S Can Acad Pathol Inc. 2003;16:366–75.
Yamaguchi U, Hasegawa T, Masuda T, et al. Differential diagnosis of gastrointestinal stromal tumor and other spindle cell tumors in the gastrointestinal tract based on immunohistochemical analysis. Virchows Arch. 2004;445:142–50.
Miettinen M, Sarlomo-Rikala M, Sobin LH, Lasota J. Esophageal stromal tumors: a clinicopathologic, immunohistochemical, and molecular genetic study of 17 cases and comparison with esophageal leiomyomas and leiomyosarcomas. Am J Surg Pathol. 2000;24:211–22.
Miettinen M, Kopczynski J, Makhlouf HR, et al. Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the duodenum. Am J Surg Pathol. 2003;27:625–41.
Miettinen M, Sarlomo-Rikala M, Sobin LH, Lasota J. Gastrointestinal stromal tumors and leiomyosarcomas in the colon: a clinicopathologic, immunohistochemical, and molecular genetic study of 44 cases. Am J Surg Pathol. 2000;24:1339–52.
Kubota T. Gastrointestinal stromal tumor (GIST) and imatinib. Int J Clin Oncol. 2006;11:184–9.
Lux ML, Rubin BP, Biase TL, et al. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol. 2000;156:791–5.
Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science. 2003;299:708–10.
Emile J, Théou N, Tabone S, et al. Clinicopathologic, phenotypic, and genotypic characteristics of gastrointestinal mesenchymal tumors. Clin Gastroenterol Hepatol. 2004;2:597–605.
Pantaleo MA, Astolfi A, Indio V, et al.: SDHA Loss-of-Function Mutations in KIT–PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing. J Natl Cancer Inst. 2011.
Katz SC, DeMatteo RP. Gastrointestinal stromal tumors and leiomyosarcomas. J Surg Oncol. 2008;97:350–9.
Yamamoto H, Handa M, Tobo T, et al. Clinicopathological features of primary leiomyosarcoma of the gastrointestinal tract following recognition of gastrointestinal stromal tumours. Histopathology. 2013;63:194–207.
Stelow EB, Jones DR, Shami VM. Esophageal leiomyosarcoma diagnosed by endoscopic ultrasound-guided fine-needle aspiration. Diagn Cytopathol. 2007;35:167–70.
Lindenmann J, Matzi V, Maier A, Smolle-Juettner FM. Transthoracic esophagectomy and lobectomy performed in a patient with synchronous lung cancer and combined esophageal cancer and esophageal leiomyosarcoma. Eur J Cardio Thorac Surg. 2007;31:322–4.
Zhu X, Zhang XQ, Li BM, Xu P, Zhang KH, Chen J. Esophageal mesenchymal tumors: endoscopy, pathology and immunohistochemistry. World J Gastroenterol. 2007;13:768–73.
Pramesh CS, Pantvaidya GH, Moonim MT, Jambhekar NA, Sharma S, Deshpande RK. Leiomyosarcoma of the esophagus. Dis Esophagus. 2003;16:142–4.
Insabato L, Di Vizio D, Ciancia G, Pettinato G, Tornillo L, Terracciano L. Malignant gastrointestinal leiomyosarcoma and gastrointestinal stromal tumor with prominent osteoclast-like giant cells. Arch Pathol Lab Med. 2004;128:440–3.
Soufi M, Errougani A, Chekkof RM. Primary gastric leiomyosarcoma in young revealed by a massive hematemesis. J Gastrointest Cancer. 2009;40:69–72.
Pauser U, Grimm H. Intramucosal leiomyosarcoma of the stomach following hereditary retinoblastoma in childhood—a case report and review of the literature. World J Surg Oncol. 2008;6:131.
Masuzawa N, Kishimoto M, Nishimura A, et al. Gastric leiomyosarcoma manifesting peculiar findings: radiological–pathological correlation. Pathol Int. 2009;59:306–11.
Insabato L, Masone S, Campione S, et al. Coexistence of primary gastric giant cell-rich leiomyosarcoma and gastrointestinal stromal tumor: report of a very rare combination and review of the literature. Int J Surg Pathol. 2012;20:74–8.
Miettinen M, Sobin LH, Lasota J. True smooth muscle tumors of the small intestine: a clinicopathologic, immunhistochemical, and molecular genetic study of 25 cases. Am J Surg Pathol. 2009;33:430–6.
Kefalas CH, Altrabulsi B, Milvenan JS, Goldschmiedt M. Endoscopic electrosurgical snare resection of leiomyosarcoma of main duodenal papilla. Gastrointest Endosc. 2004;59:743–5.
Pahwa M, Girotra M, Rautela A, et al. Periampullary leiomyosarcoma presenting with cutaneous metastases: a rare entity. South Med J. 2010;103:1190–1.
Jabr FI, Skeik N. A leiomyosarcoma of the small bowels causing obscure gastrointestinal bleeding diagnosed by capsule endoscopy. J Med Liban. 2010;58:238–40.
Miettinen M, Furlong M, Sarlomo-Rikala M, et al. Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the rectum and anus: a clinicopathologic, immunohistochemical, and molecular genetic study of 144 cases. Am J Surg Pathol. 2001;25:1121–33.
Michalopoulos A, Papadopoulos VN, Basdanis G, et al. Colorectal gastrointestinal mesenchymal tumours. Report of a stromal case of the rectum (GIST) and a leiomyosarcoma of the transverse colon. Tech Coloproctol. 2004;8:155–7.
Resch T, Oberhuber R, Zitt M, et al. Leiomyosarcoma of the colon: unresolved issues of a rare but highly aggressive malignancy. Am Surg. 2011;77:E62–4.
Hamai Y, Hihara J, Emi M, et al. Leiomyosarcoma of the sigmoid colon with multiple liver metastases and gastric cancer: a case report. BMC Gastroenterol. 2012;12:1.
Basu I, Lemonas P. Leiomyosarcoma of the rectum following pelvic irradiation: a difficult histological diagnosis. Ann Roy Coll Surg. 2012;94:44–5.
Kourda N, Kourda J, Aouam J, et al. Rectal leiomyosarcoma: report on two cases and a practical approach to differential diagnosis. Pathologica. 2010;102:417–9.
Ouh YT, Hong JH, Min KJ, et al. Leiomyosarcoma of the rectum mimicking primary ovarian carcinoma: a case report. J Ovarian Res. 2013;6:2–5.
Figueiredo JA, Andrade AFZBD, Carneiro BGMCE, et al. Rectal leiomyosarcoma, three-year follow-up. J Coloproctol (Rio Janeiro). 2012;32:72–4.
Conlon KC, Casper ES, Brennan MF. Primary gastrointestinal sarcomas: analysis of prognostic variables. Ann Surg Oncol. 1995;2:26–31.
Kurugoglu S, Ogut G, Mihmanli I, et al. Abdominal leiomyosarcomas: radiologic appearances at various locations. Eur Radiol. 2002;12:2933–42.
Lee SH, Ha HK, Byun JY, et al. Radiological features of leiomyomatous tumors of the colon and rectum. J Comput Assist Tomogr. 2000;24:407–12.
Yasuda K, Cho E, Nakajima M, Kawai K. Diagnosis of submucosal lesions of the upper gastrointestinal tract by endoscopic ultrasonography. Gastrointest Endosc. 1990;36:S17–20.
Boyce GA, Sivak MV, Rösch T, et al. Evaluation of submucosal upper gastrointestinal tract lesions by endoscopic ultrasound. Gastrointest Endosc. 1991;37:449–54.
Palazzo L, Landi B, Cellier C, Cuillerier E, et al. Endosonographic features predictive of benign and malignant gastrointestinal stromal cell tumours. Gut. 2000;46:88–92.
National Comprehensive Cancer Network. Clinical practice guidelines in oncology: colon cancer. V 32012. https://www.nccn.org/professionals/physician_gls/PDF/colon.pdf. Accessed Oct 2015, p. 27.
Futuri S, Donohoe K, Spaccavento C, Yudelman I. Rectal leiomyosarcoma: a rare and long-term complication of radiation therapy. BMJ Case Rep. 2014;2014:bcr2014205240.
Oruc M, Mayır B, Bılecık T, et al. Rectal leiomyosarcoma, late complication of pelvic radiotherapy. Int J Colorectal Dis. 2015;30:571–2.
Hill MA, Gong C, Casey TJ, et al. Detection of K-ras mutations in resected primary leiomyosarcoma. Cancer Epidemiol Biomark Prev. 1997;6:1095–100.
Hill MA, Mera R, Levine EA, et al. Leiomyosarcoma: a 45-year review at Charity Hospital, New Orleans/Discussion. Am Surg. 1998;64:53.
Chaves NJ, Kotsimbos TC, Warren MA, et al. Cranial leiomyosarcoma in an Epstein–Barr virus (EBV)-mismatched lung transplant recipient. J Hear lung Transpl. 2007;26:753–5.
Tahri A, Noel G, Figuerella-Branger D, et al. Epstein–Barr virus associated central nervous system leiomyosarcoma occurring after renal transplantation: case report and review of the literature. Cancer Radiother J la Soc Fr Radiother Oncol. 2003;7:308–13.
Tetzlaff MT, Nosek C, Kovarik CL. Epstein–Barr virus-associated leiomyosarcoma with cutaneous involvement in an African child with human immunodeficiency virus: a case report and review of the literature. J Cutan Pathol. 2011;38:731–9.
Sakurai S, Fukasawa T, Chong J, et al. C-kit gene abnormalities in gastrointestinal stromal tumors (tumors of interstitial cells of cajal). Jpn J Cancer Res. 1999;90:1321–8.
Martin-Liberal J. Leiomyosarcoma: principles of management. Intractable Rare Dis Res. 2013;2:127–9.
Oosten AW, Seynaeve C, Schmitz PIM, et al. Outcomes of first-line chemotherapy in patients with advanced or metastatic leiomyosarcoma of uterine and non-uterine origin. Sarcoma. 2009;2009:1–6.
Hensley ML, Ishill N, Soslow R, et al. Adjuvant gemcitabine plus docetaxel for completely resected stages I–IV high grade uterine leiomyosarcoma: results of a prospective study. Gynecol Oncol. 2009;112:563–7.
Van der Graaf WTA, Blay J-Y, Chawla SP, et al. Pazopanib for metastatic soft-tissue sarcoma (PALETTE): a randomised, double-blind, placebo-controlled phase 3 trial. Lancet. 2012;379:1879–86.
Gladdy RA, Qin L-X, Moraco N, et al. Predictors of survival and recurrence in primary leiomyosarcoma. Ann Surg Oncol. 2013;20:1851–7.
Aggarwal G, Sharma S, Zheng M, et al. Primary leiomyosarcomas of the gastrointestinal tract in the post-gastrointestinal stromal tumor era. Ann Diagn Pathol. 2012;16:532–40.
Lee KH, Fiedler P, Passarelli J, Bobrow S. Autoimmune hemolytic anemia associated with postirradiation malignant stromal tumor (leiomyosarcoma) of the jejunum. Ann Diagn Pathol. 2000;4:367–9.
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Hilal, L., Barada, K., Mukherji, D. et al. Gastrointestinal (GI) leiomyosarcoma (LMS) case series and review on diagnosis, management, and prognosis. Med Oncol 33, 20 (2016). https://doi.org/10.1007/s12032-016-0730-3
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DOI: https://doi.org/10.1007/s12032-016-0730-3