胃肠道平滑肌肉瘤临床病理分析3例报告

doi:10.16150/j.1671-2870.2024.05.011

摘要/Abstract

摘要：

本文报告3例罕见的原发于胃肠道的平滑肌肉瘤（leiomyosarcoma，LMS）病例。3例患者中，男性1例，女性2例，年龄为58~68岁；肿瘤原发于胃2例，小肠1例。患者的手术切除标本，在光学显微镜下可见，肿瘤呈浸润性生长，均侵犯固有肌层，2例表面黏膜有溃疡；肿瘤细胞呈梭形，可见束状、交织状排列，细胞质丰富、嗜酸，细胞核呈中-高度异型，核分裂象易见（50~100个/50 HPF）。免疫组化染色显示，肿瘤细胞3例Desmin阳性，2例SMA、Caldesmon阳性，3例均为CD117、Dog-1、CD34阴性，Ki-67增殖指数30%~80%。3例患者随访了11~53个月，其中2例患者无瘤生存，1例患者于手术后30个月发生肿瘤胰腺转移，随访至今53个月，仍生存。LMS是一种少见的软组织肉瘤，原发于胃肠道的LMS极为罕见。该病确诊依据是术后病理检查，LMS肿瘤细胞呈梭形，细胞质嗜酸，细胞核异型明显，表达平滑肌细胞标志物，需与胃肠道间质瘤及其他梭形细胞肿瘤相鉴别。LMS以手术治疗为主，患者的预后较差，故正确诊断该病至关重要。

关键词: 平滑肌肉瘤, 胃肠道肿瘤, 预后, 免疫组化

Abstract:

This study reports three rare cases of primary leiomyosarcoma (LMS) originating in the gastrointestinal tract. Among the three patients, one was male and two were females, aged 58 to 68 years. The tumors originated in the stomach in two cases and in the small intestine in one case. Histopathological examination of the surgical specimens showed that the tumors exhibited infiltrative growth, all invading the muscularis propria, and mucosal surface ulceration was observed in two cases. The tumor cells were spindle-shaped, arranged in bundles or interwoven patterns. The cytoplasm was abundant and eosinophilic, and the nuclei showed moderate to high atypia, with mitotic figures easily observed (50-100/50 HPF). Immunohistochemical staining revealed that the tumor cells were positive for SMA(3/3), Desmin and Caldesmon(2/3), but negative for CD117, Dog-1, and CD34(3/3). The Ki-67 proliferation index ranged from 30% to 80%. The follow-up periods of the three patients ranged from 11 to 53 months. Two patients were tumor-free, while one patient developed pancreatic metastasis 30 months after surgery but remained alive at the last follow-up at 53 months. LMS is a rare soft tissue sarcoma, and primary gastrointestinal LMS is extremely rare. The definitive diagnosis of the disease is based on postoperative pathological examination. LMS tumor cells are spindle-shaped, with eosinophilic cytoplasm and significant nuclear atypia, expressing smooth muscle cell markers. It is necessary to differentiate from gastrointestinal stromal tumors and other spindle cell tumors. Surgical resection remains the primary treatment, but the prognosis is generally poor, highlighting the importance of accurate diagnosis.

Key words: Leiomyosarcoma, Gastrointestinal tumors, Prognosis, Immunohistochemistry

中图分类号:

R735

王玉蓉, 汪元元, 翁海燕. 胃肠道平滑肌肉瘤临床病理分析3例报告[J]. 诊断学理论与实践, 2024, 23(05): 537-541.

WANG Yurong, WANG Yuanyuan, WENG Haiyan. Clinical and pathological analysis of gastrointestinal leiomyosarcoma：Report of three cases[J]. Journal of Diagnostics Concepts & Practice, 2024, 23(05): 537-541.

图/表 2

参考文献 26

[1]	SERRANO C, GEORGE S. Leiomyosarcoma[J]. Hematol Oncol Clin North Am, 2013, 27(5):957-974.
[2]	GEORGE S, SERRANO C, HENSLEY M L, et al. Soft tissue and uterine leiomyosarcoma[J]. J Clin Oncol, 2018, 36(2):144-150. doi: 10.1200/JCO.2017.75.9845 pmid: 29220301
[3]	KANG W Z, XUE L Y, TIAN Y T. Leiomyosarcoma of the stomach: A case report[J]. World J Clin Cases, 2019, 7 (21):3575-3582.
[4]	AGGARWAL G, SHARMA S, ZHENG M, et al. Primary leiomyosarcomas of the gastrointestinal tract in the post-gastrointestinal stromal tumor era[J]. Ann Diagn Pathol, 2012, 16(6):532-540. doi: 10.1016/j.anndiagpath.2012.07.005 pmid: 22917807
[5]	TAKAGI T, SAITO S, YOKOTA S, et al. Laparoscopic and endoscopic cooperative surgery for leiomyosarcoma of the stomach: a case report with a review of the literature[J]. Surg Case Rep, 2021, 7(1):146. doi: 10.1186/s40792-021-01218-3 pmid: 34143361
[6]	BANANZADEH A, MOKHTARI M, SOHOOLI M, et al. Two cases of primary leiomyosarcoma of sigmoid colon treated with laparoscopic surgery: A case report and a review of literature[J]. Int J Surg Case Rep, 2021, 87:106420.
[7]	WANG T, ZREIK R, LENG B. The landscape of primary gastric leiomyosarcoma in texas population: analysis of texas cancer registry data[J]. Cureus, 2023, 15(11):e49403.
[8]	ANNICCHIARICO A, MONTALI F, BALDINU M, et al. Leiomyosarcoma of the rectum: A systematic review of recent literature[J]. J Surg Oncol, 2024, 129(2):365-380.
[9]	ARTS R, BOSSCHA K, RANSCHAERT E, et al. Small bowel leiomyosarcoma: a case report and literature review[J]. Turk J Gastroenterol, 2012, 23(4):381-384. pmid: 22965511
[10]	MIETTINEN M, LASOTA J. Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis[J]. Arch Pathol Lab Med, 2006, 130(10):1466-1478. doi: 10.5858/2006-130-1466-GSTROM pmid: 17090188
[11]	BASU I, LEMONAS P. Leiomyosarcoma of the rectum following pelvic irradiation: a difficult histological diagnosis[J]. Ann R Coll Surg Engl, 2012, 94(1):e44-e45
[12]	CRYSTAL J S, KORDERAS K, SCHWARTZBERG D, et al. Primary leiomyosarcoma of the colon: a report of two cases, review of the literature, and association with immunosuppression for IBD and rheumatoid arthritis[J]. Case Rep Surg, 2018, 2018:6824643.
[13]	MARUZZO M, BRUNELLO A, DIMINUTTO A, et al. Long-term response to first-line trabectedin in an elderly female patient with a metastatic leiomyosarcoma unfit for anthracycline[J]. Anticancer Drugs, 2016, 27(3):264-267. doi: 10.1097/CAD.0000000000000326 pmid: 26629769
[14]	COCO C, RIZZO G, MANNO A, et al. Surgical treatment of small bowel neoplasms[J]. Eur Rev Med Pharmacol Sci, 2010, 14(4):327-333.
[15]	ÖZTEKIN M, YILMAZ B, AĞAGÜNDÜZ D, et al. Overview of helicobacter pylori infection: clinical features, treatment, and nutritional aspects. diseases[J]. 2021, 9(4):66.
[16]	GARCIA-ORTEGA D Y, REYES-GARCIA N, MARTINEZ-SAID H, et al. Radiation-induced leiomyosarcoma of the rectum after cervical cancer treatment[J]. Rev Gastroenterol Mex (Engl Ed), 2018, 83(4):465-467.
[17]	ANDERSON N D, BABICHEV Y, FULIGNI F, et al. Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival[J]. Nat Commun, 2021, 12(1):4496. doi: 10.1038/s41467-021-24677-6 pmid: 34301934
[18]	Cancer Genome Atlas Research Network. Electronic address: elizabeth.demicco@sinaihealthsystem.ca; Cancer Genome Atlas Research Network. Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas[J]. Cell, 2017, 171(4):950-965.e28. doi: S0092-8674(17)31203-5 pmid: 29100075
[19]	COPE B M, TRAWEEK R S, LAZCANO R, et al. Targe-ting the molecular and immunologic features of leiomyosarcoma[J]. Cancers (Basel), 2023, 15(7):2099.
[20]	HILAL L, BARADA K, MUKHERJI D, et al. Gastrointestinal (GI) leiomyosarcoma (LMS) case series and review on diagnosis, management, and prognosis[J]. Med Oncol, 2016, 33(2):20. doi: 10.1007/s12032-016-0730-3 pmid: 26786155
[21]	YANG J. Primary leiomyosarcoma in the colon: A case report[J]. Medicine (Baltimore), 2018, 97(7):e9923.
[22]	YAHAGI M, ISHII Y, HARA A, et al. Laparoscopic surgery to treat leiomyosarcomas of the sigmoid colon:a case report and literature review[J]. Surg Case Rep, 2019, 5(1):20. doi: 10.1186/s40792-019-0579-8 pmid: 30756192
[24]	FENTY M, SHAHBAZOV R, DHIR M. Primary gastric leiomyosarcoma-a rarely encountered clinical entity[J]. J Gastrointest Surg, 2021, 25(5):1340-1342. doi: 10.1007/s11605-020-04857-3 pmid: 33169323
[25]	SATO T, AKAHOSHI K, TOMOEDA N, et al. Leiomyosarcoma of the stomach treated by endoscopic submucosal dissection[J]. Clin J Gastroenterol, 2018, 11(4):291-296. doi: 10.1007/s12328-018-0838-4 pmid: 29500609
[26]	SMRKE A, BENSON C, STRAUSS D C, et al. Gastrointestinal leiomyosarcoma demonstrate a predilection for distant recurrence and poor response to systemic treatments[J]. Eur J Surg Oncol, 2021, 47(10):2595-2601. doi: 10.1016/j.ejso.2021.04.043 pmid: 33966946

例号	性别	年龄（岁）	肿块大小（cm）	部位	临床表现	治疗	随访（月）
1	女	62	4.5×4.0×4.0	胃底部	食欲下降伴体重减轻	手术切除	复发（30）
2	男	68	4.5×3.5×2.5	小肠	持续性左侧肢体麻木	手术切除	无复发（24）
3	女	58	7.5×5.0×4.5	胃体小弯侧	上腹部饱胀	手术切除	无复发（11）