Balogh Zsófia, Deák Linda, Sápi Zoltán
1st Department of Pathology and Experimental Cancer Research, Faculty of Medicine, Semmelweis University, Ulloi út 26, 1085 Budapest, Hungary.
Cancer Genet Cytogenet. 2008 Jun;183(2):121-4. doi: 10.1016/j.cancergencyto.2008.02.013.
Soft tissue malignant myoepithelioma (STMM) is a particularly rare tumor displaying myoepithelial elements and lacking obvious ductal differentiation. From the one case report with cytogenetic data available in the literature, STMM seems to be a distinct entity with some resemblance to chordoma on the one hand and myoepithelioma on the other. The present case of STMM yielded novel data from high-resolution comparative genomic hybridization (HR-CGH) analysis. An 82-year-old female patient presented with a soft tissue tumor within the deep soft tissues in the right gluteal muscle measuring 16 x 13 x 11 cm. Histologically, the lesion was diagnosed as a myoepithelial carcinoma. Immunohistochemistry was focally positive for pancytokeratin, EMA, S-100 protein, and alpha smooth muscle actin. HR-CGH analysis revealed gains of 1p31 approximately p34, 1q21 approximately q23, 9q12 approximately q33, and 16q22 and losses of 1p11 approximately p22, 1q24 approximately q44, 3p, 10q11.1 approximately q22, 13q, 14q13 approximately q24, and 15q. Subsequent fluorescence in situ hybridization analysis confirmed deletion of 3p, gain of 16q, and monosomy of chromosomes 13 and 15. These results support the hypothesis that STMM is a distinct entity, not sharing the cytogenetic alterations of salivary gland myoepithelial carcinomas and ductal carcinomas of breast with myoepithelial differentiation.
软组织恶性肌上皮瘤(STMM)是一种极为罕见的肿瘤,具有肌上皮成分且缺乏明显的导管分化。从文献中可获取细胞遗传学数据的一例报告来看,STMM似乎是一种独特的实体,一方面与脊索瘤有某些相似之处,另一方面与肌上皮瘤相似。本病例的STMM通过高分辨率比较基因组杂交(HR-CGH)分析得出了新的数据。一名82岁女性患者,右侧臀肌深部软组织内出现一个大小为16×13×11 cm的软组织肿瘤。组织学上,该病变被诊断为肌上皮癌。免疫组化显示全细胞角蛋白、上皮膜抗原、S-100蛋白和α平滑肌肌动蛋白呈局灶阳性。HR-CGH分析显示1p31至p34、1q21至q23、9q12至q33和16q22有增益,1p11至p22、1q24至q44、3p、10q11.1至q22、13q、14q13至q24和15q有缺失。随后的荧光原位杂交分析证实了3p缺失、16q增益以及13号和15号染色体单体性。这些结果支持了STMM是一种独特实体的假说,它不具有涎腺肌上皮癌和具有肌上皮分化的乳腺导管癌的细胞遗传学改变。