源于遗传性多发性骨软骨瘤的继发性软骨肉瘤中的新型易位（9；12）（q22；q24）

Novel translocation (9;12)(q22;q24) in secondary chondrosarcoma arising from hereditary multiple exostosis.

作者信息

Lee Francis Young-In, Zawadsky Mark, Parisien May, Ho Mike, Murty Vundavalli V V S, Jayaraman Thottala, Dick Harold M

机构信息

Department of Orthopaedic Surgery, College of Physicians and Surgeons of Columbia University, 622 W. 168th St., PH 11, New York, NY, USA.

出版信息

Cancer Genet Cytogenet. 2002 Jan 1;132(1):68-70. doi: 10.1016/s0165-4608(01)00524-6.

DOI:10.1016/s0165-4608(01)00524-6

PMID:11801313

Abstract

We report a new translocation in a patient with a history of hereditary multiple exostosis (HME) who developed a recurrent grade I chondrosarcoma involving the sacrum and retroperitoneum. Karyotypic analysis of the tumor revealed a sole chromosome abnormality t(9;12)(q22;q24.3). To our knowledge, this translocation has not been previously identified in either chondrosarcoma, HME, or related tumor types. Our novel translocation may be related to the sarcomatous degeneration of the pre-existing exostosis.

摘要

我们报告了一例有遗传性多发性骨软骨瘤（HME）病史的患者发生的新的易位，该患者出现了累及骶骨和腹膜后的复发性I级软骨肉瘤。对肿瘤进行的核型分析显示唯一的染色体异常为t(9;12)(q22;q24.3)。据我们所知，这种易位在软骨肉瘤、HME或相关肿瘤类型中均未被先前发现。我们发现的这种新易位可能与先前存在的骨软骨瘤的肉瘤样退变有关。