多形性横纹肌肉瘤临床病理特征分析

目的 探讨多形性横纹肌肉瘤（pleomorphic rhabdomyosarcoma, PRMS）的临床病理学特征及鉴别诊断要点。方法 回顾性收集2008年6月至2023年3月苏州大学附属第一医院收治的PRMS患者的临床表现、病理学特征、免疫表型、治疗经过,通过电话随访获取患者生存状态及有无复发和转移。结果 共纳入6例PRMS患者,其中男性5例,女性1例;年龄29～77岁,平均年龄54.17岁;发病部位分别为右上臂、右肾盂、左鼻窦/颈部/下颌、右肩背、右臀大肌和鼻咽部。4例临床资料完整的患者中,1例表现为涕中带血,喉部异物感;3例表现为肿块进行性增大,其中2例伴压痛,影像学均提示占位性病变。组织学上,3例（50%）有凝固性坏死,4例（66.7%）呈典型的多形性肉瘤形态,2例（33.3%）以异型的梭形细胞为主。免疫组化染色显示：6例（100%）弥漫表达desmin,5例（83.3%）灶性表达myogenin,4例（66.7%）灶性表达MyoD1,1例（16.7%）灶性表达SMA;Ki-67增殖指数30%～70%。6例患者均接受手术治疗;4例患者获得完整随访资料,均于术后进行放疗和（或）化...

Clinicopathologic analysis of pleomorphic rhabdomyosarcoma

Objective To investigate the clinicopathological features and differential diagnosis of pleomorphic rhabdomyosarcoma (PRMS). Methods The clinical manifestations, pathological features, immunophenotypes and treatment courses of PRMS patients admitted to the First Affiliated Hospital of Soochow University from June 2008 to March 2023 were retrospectively collected and followed up, and relevant literature was reviewed. Results A total of 6 patients with PRMS were included, including 5 males and 1 female. Age ranged from 29 to 77 years, with an average age of 54.17 years. The affected sites were right upper arm, right renal pelvis, left sinus/neck/lower mandible, right shoulder and back, right gluteus maximus and nasopharynx. Among the 4 patients with complete clinical data, 1 patient showed blood in the nose and abnormal sensation in the throat, while the other 3 patients presented with progressive enlargement of mass, and 2 of them were accompanied by tenderness, all of which indicated space-occupying lesions on imaging. Histologically, 3 cases (50%) showed common coagulated necrosis, 4 cases (66.7%) showed typical morphologic features of pleomorphic sarcoma, and 2 cases (33.3%) showed spindle cell atypia. Immunohistochemistry showed that 6 cases (100%) expressed desmin diffusively, 5 cases (83.33%) expressed myogenin locally, 4 cases (66.67%) expressed MyoD1 locally, and 1 case (16.7%) expressed SMA locally. The proliferation index of Ki-67 was 30% ~ 70%. All 6 patients received surgical treatment, and complete follow-up data were obtained for 4 patients, all of whom received postoperative radiotherapy and/or chemotherapy, and died after recurrence or metastasis of different degrees. Conclusion As a rare type of RMS, PRMS has a high degree of malignancy and a poor prognosis, so the differential diagnosis is particularly important.