Mysorekar Vijaya V, Harish K, Kilara Nalini, Subramanian Murali, Giridhar A G
Department of Pathology, M. S. Ramaiah Medical College and Hospital, Bangalore, India.
Indian J Pathol Microbiol. 2008 Apr-Jun;51(2):274-6. doi: 10.4103/0377-4929.41694.
Embryonal rhabdomyosarcoma is a soft-tissue sarcoma which has a predilection for the head and neck area, genitourinary tract and the extremities. We report a rare case of embryonal rhabdomyosarcoma of the chest wall in an 8-year-old girl, presenting as a destructive tumor in the rib and clinically and radiologically mimicking Ewing's sarcoma. Histopathological examination showed a small round cell tumor. Immunohistochemically, the positivity for muscle markers desmin and myogenin in the tumor cells proved to be useful for making a definitive diagnosis of embryonal rhabdomyosarcoma. Cytogenetic analysis revealed a high level of aneuploidy in the tumor cells, with double-minutes and additional chromosomal structural aberrations. The patient is responding well to chemotherapy.
胚胎性横纹肌肉瘤是一种软组织肉瘤,好发于头颈部、泌尿生殖道及四肢。我们报告了一例8岁女孩胸壁胚胎性横纹肌肉瘤的罕见病例,该肿瘤表现为肋骨的破坏性肿瘤,临床及影像学表现酷似尤因肉瘤。组织病理学检查显示为小圆细胞肿瘤。免疫组织化学检查显示,肿瘤细胞中肌肉标志物结蛋白和肌细胞生成素呈阳性,这对明确诊断胚胎性横纹肌肉瘤很有帮助。细胞遗传学分析显示肿瘤细胞存在高度非整倍体,伴有双微体和其他染色体结构畸变。该患者对化疗反应良好。