Department of Pathology, Hospital General Universitario de Valencia, University of Valencia, Spain.
Diagn Pathol. 2010 Aug 11;5:52. doi: 10.1186/1746-1596-5-52.
Sclerosing rhabdomyosarcoma (SRMS) is an infrequent variant of rhabdomyosarcoma characterized by extensive intercellular hyaline fibrosis. We report the case of a 37 year-old male with a 9 x 6 cm SRMS on the right elbow. Histologically, the tumor showed an abundant extracellular hyaline matrix with extratumoral vascular emboli and microscopic foci of fusocellular embryonal rhabdomyosarcoma (FRMS) separated by a fibrotic band from the sclerosing areas. One year later the patient presented with a right intratesticular tumor of 1.2 x 0.8 cm, which was reported as pure FRMS. Immunohistochemically, SRMS was positive only for MyoD1 and Vimentin and negative for Myogenin and Desmin. Both the elbow emboli with the extratumoral foci of FRMS and the intratesticular tumor were positive for Myogenin, MyoD1, Vimentin and Desmin. Using fluorescent in situ hybridization (FISH), the SRMS and the FRMS tumor cells of the elbow and the FRMS tumor cells of the testis were found to be negative for FOXO1A translocation in chromosome 13. PCR chimeric transcriptional products PAX3-FKHR and PAX7-FKHR were not found. Six months following testicular resection, the patient died of multiple metastases in the mediastinum, lung and right thigh.
硬化性横纹肌肉瘤（SRMS）是一种罕见的横纹肌肉瘤变异型，其特征为广泛的细胞间玻璃样纤维化为主要特点。我们报告了 1 例 37 岁男性患者，右肘部长有 9 x 6 cm 的 SRMS。组织学上，肿瘤显示出丰富的细胞外透明基质，伴有肿瘤外血管栓子和微小的融合性胚胎性横纹肌肉瘤（FRMS）灶，这些灶被纤维性带与硬化区域分隔开。一年后，患者出现了 1.2 x 0.8 cm 的右侧睾丸内肿瘤，报告为纯 FRMS。免疫组织化学显示，SRMS 仅对 MyoD1 和 Vimentin 阳性，而对 Myogenin 和 Desmin 阴性。肘部的栓塞物和肿瘤外的 FRMS 灶以及睾丸内的 FRMS 肿瘤均对 Myogenin、MyoD1、Vimentin 和 Desmin 阳性。使用荧光原位杂交（FISH），发现肘部的 SRMS 和 FRMS 肿瘤细胞以及睾丸的 FRMS 肿瘤细胞均未发生染色体 13 上的 FOXO1A 易位。未发现 PAX3-FKHR 和 PAX7-FKHR 的 PCR 嵌合转录产物。睾丸切除后 6 个月，患者因纵隔、肺和右大腿多处转移而死亡。
