原发性心脏平滑肌肉瘤5例临床病理学特点及分子改变  

Clinicopathological characteristics and molecular alterations of primary cardiac leiomyosarcoma: report of five cases

作　　者：董方 陈东[1] 商建峰[1] 方微[1] 韩丽媛[1] 连国亮[1] 汪昊 郑梦晗 Fang Dong;Dong Chen;Jianfeng Shang;Wei Fang;Liyuan Han;Guoliang Lian;Hao Wang;Menghan Zheng(Department of Pathology,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京安贞医院病理科,北京100029

出　　处：《中华病理学杂志》2022年第6期512-517,共6页Chinese Journal of Pathology

基　　金：北京市优秀人才青年骨干个人项目(2018000021469G240);北京市医院管理中心创新梦工场经费资助(202114)。

摘　　要：目的探讨原发性心脏平滑肌肉瘤(PCLMS)的临床病理特征、影像学特征及分子遗传学改变。方法收集首都医科大学附属北京安贞医院2016年1月至2020年12月收治的PCLMS病例5例, 回顾性分析其临床资料、影像学资料、病理特征及分子学改变, 并进行随访。结果 5例患者均为女性, 均无其他部位平滑肌肉瘤病史, 年龄37~62岁, 中位年龄47岁。主要症状为胸痛和呼吸困难, 1例患者出现心悸和下肢无力, 1例患者出现头晕。2例肿瘤位于左心房, 2例位于右心房, 1例位于右心室;肿瘤最大径2.5~14.0 cm(平均最大径6.2 cm)。超声检查大多表现为基底较宽的中等回声团块, CT表现为团块状低密度灶。组织学上, 2例为分化良好的平滑肌肉瘤, 3例为中、低分化的平滑肌肉瘤, 其中2例伴有广泛、疏松的黏液样间质。免疫组织化学结果显示, 肿瘤组织平滑肌肌动蛋白、结蛋白、MDM2及表皮生长因子受体(EGFR)阳性。荧光原位杂交检测显示2例有间变性淋巴瘤激酶(ALK)基因重排, 3例有COL1A1-PDGFB基因融合。所有病例均进行了手术治疗, 2例进行了化疗。截至2021年9月15日, 3例于术后0~11个月死亡(平均生存期7.7个月), 2例存活。结论 PCLMS是一种侵袭性强、易复发、预后差的肿瘤。对其临床影像、病理形态及分子学的研究将有助于临床作出准确的诊断, 同时为这种难治性的肉瘤的靶向治疗提供科学依据。Objective To investigate the clinical,pathologic and radiologic features and molecular alterations in patients with primary cardiac leiomyosarcoma(PCLMS).Methods Five cases of PCLMS were collected in Beijing Anzhen Hospital from January 2016 to December 2020.The clinical,pathologic and radiologic data,and molecular alterations were analyzed,and the patients were followed up.Results All five patients were female,and had no history of leiomyosarcoma in other parts of the body.The age of patients ranged from 37 to 62 years(median 47 years).The main clinical symptoms were chest pain and dyspnea,one also presented with palpitation and lower limb weakness and one with dizziness.Two tumors were located in the left atrium,two in the right atrium,and one in the right ventricle,and they maximal diameter ranged from 2.5 to 14.0 cm(mean 6.2 cm).The neoplasms presented as medium-echo masses with a broad base in the echocardiography,and as a low-density,solid mass when detected by contrast-enhanced CT.Histologically,two tumors were well-differentiated and three were moderately and poorly differentiated,and two included extensive,loose myxoid stroma.Immunohistochemical staining showed that PCLMS was positive for SMA,desmin,MDM2,and epidermal growth factor receptor.Fluorescence in situ hybridization showed ALK gene rearrangement in two cases,and COL1A1-PDGFB fusion in three cases.All cases received surgical excision and two cases received chemotherapy.Three patients died within 0-11 months(mean survival of 7.7 months)and two patients were alive.Conclusions PCLMS is a malignant tumor with a high recurrence rate and poor prognosis.These cases may provide useful information to improve the diagnosis and management of PCLMS.

关 键 词：心脏肿瘤 平滑肌肉瘤 分子诊断技术 预后 

分 类 号：R732.1[医药卫生—肿瘤]