Sciot R, Dal Cin P, Fletcher C, Samson I, Smith M, De Vos R, Van Damme B, Van den Berghe H
Department of Pathology, University Hospitals, Leuven, Belgium.
Mod Pathol. 1995 Sep;8(7):765-8.
Three cases of extraskeletal myxoid chondrosarcoma with typical histologic and ultrastructural features were investigated cytogenetically. All three cases showed a reciprocal chromosome translocation characterized as t(9;22)(q22-31)(q11-12), thus confirming the findings in three previously karyotyped cases of extraskeletal myxoid chondrosarcoma in the literature. These data add significantly to the evidence of t(9;22) being diagnostic for extraskeletal myxoid chondrosarcoma. Other previously published cases with a range of complex karyotypes were less well defined morphologically. In cases with limited diagnostic material this karyotype might facilitate distinction from myxoid liposarcoma, which consistently shows t(12;16). Clear cell sarcoma, Ewing's sarcoma/primitive neuroectodermal tumor, and desmoplastic round cell tumor also show involvement of chromosome 22 with formation of a hybrid gene between the Ewing's sarcoma gene on band q12 and a transcription factor gene. Whether rearrangement of the Ewing's sarcoma gene is also present in extraskeletal myxoid chondrosarcoma is not clear at present. Cloning of the (9;22) translocation might provide important clues to the pathogenesis of this type of chondrosarcoma.
对3例具有典型组织学和超微结构特征的骨外黏液样软骨肉瘤进行了细胞遗传学研究。所有3例均显示一种相互染色体易位，特征为t(9;22)(q22 - 31)(q11 - 12)，从而证实了文献中3例先前已进行核型分析的骨外黏液样软骨肉瘤的研究结果。这些数据显著增加了t(9;22)对骨外黏液样软骨肉瘤具有诊断意义的证据。其他先前发表的具有一系列复杂核型的病例在形态学上定义不太明确。在诊断材料有限的病例中，这种核型可能有助于与始终显示t(12;16)的黏液样脂肪肉瘤相鉴别。透明细胞肉瘤、尤因肉瘤/原始神经外胚层肿瘤和促纤维组织增生性圆细胞肿瘤也显示22号染色体受累，在q12带的尤因肉瘤基因与一个转录因子基因之间形成杂合基因。目前尚不清楚骨外黏液样软骨肉瘤中是否也存在尤因肉瘤基因重排。(9;22)易位的克隆可能为这类软骨肉瘤的发病机制提供重要线索。
