Naumann Sabine, Krallman Pamela A, Unni K Krishnan, Fidler Mary E, Neff James R, Bridge Julia A
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska 68198, USA.
Mod Pathol. 2002 May;15(5):572-6. doi: 10.1038/modpathol.3880565.
Cytogenetic studies of mesenchymal chondrosarcoma are few and to date, no specific or recurrent aberrations have been found. In this investigation, the cytogenetic and molecular cytogenetic (spectral karyotypic and fluorescence in situ hybridization) findings for two mesenchymal chondrosarcomas, one arising skeletally and the other extraskeletally, are reported. An identical Robertsonian translocation involving chromosomes 13 and 21 [der(13;21)(q10;q10)] was detected in both cases, possibly representing a characteristic rearrangement for this histopathologic entity. Both cases also exhibited loss of all or a portion of chromosomes 8 and 20 and gain of all or a portion of chromosome 12. The observation of similar chromosomal abnormalities in both skeletal and extraskeletal mesenchymal chondrosarcoma supports a genetic as well as histopathologic relationship between these anatomically distinct neoplasms.
间叶性软骨肉瘤的细胞遗传学研究较少，迄今为止，尚未发现特异性或复发性畸变。在本研究中，报告了两例间叶性软骨肉瘤的细胞遗传学和分子细胞遗传学（光谱核型分析和荧光原位杂交）结果，其中一例发生于骨骼，另一例发生于骨骼外。在两例病例中均检测到涉及13号和21号染色体的相同罗伯逊易位[der(13;21)(q10;q10)]，这可能代表了这种组织病理学实体的特征性重排。两例病例还均表现出8号和20号染色体全部或部分缺失以及12号染色体全部或部分增加。在骨骼和骨骼外间叶性软骨肉瘤中观察到相似的染色体异常，支持了这些解剖学上不同的肿瘤之间的遗传学以及组织病理学关系。
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