Askin肿瘤的细胞遗传学。病例报告及文献复习

Cytogenetics of Askin's tumour. Case report and review of the literature.

作者信息

Füzesi L, Heller R, Schreiber H, Mertens R

机构信息

Department of Pathology, Medical Faculty, Technical University of Aachen, FRG.

出版信息

Pathol Res Pract. 1993 Mar;189(2):235-41; discussion 241-4. doi: 10.1016/S0344-0338(11)80104-4.

DOI:10.1016/S0344-0338(11)80104-4

PMID:8321753

Abstract

The eleventh cytogenetically analyzed Askin's tumour, diagnosed in a two-year-old girl, is reported. Chromosomal analysis revealed a pseudodiploid karyotype of tumour cells with translocations of t(11;22)(q24;q12) and der(4)t(2;4)(q24;q35). The observed t(11;22)(q24;q12) is not only a unique characteristic of all cytogenetically analyzed Askin's tumours but it also occurs in 92-100% of peripheral neuroepithelioma and of Ewing's sarcoma, irrespective of its osseous or extraosseous localization. This genetical similarity further supports a nosological concept according to which Askin's tumour, Ewing's sarcoma and peripheral neuroepithelioma represent phenotypic variations of the same tumour, namely the peripheral primitive neuroectodermal tumour.

摘要

报告了对一名两岁女孩诊断出的第11例经细胞遗传学分析的Askin肿瘤。染色体分析显示肿瘤细胞为假二倍体核型，伴有t(11;22)(q24;q12)和der(4)t(2;4)(q24;q35)易位。观察到的t(11;22)(q24;q12)不仅是所有经细胞遗传学分析的Askin肿瘤的独特特征，而且在92% - 100%的外周神经上皮瘤和尤因肉瘤中出现，无论其为骨内或骨外定位。这种遗传学相似性进一步支持了一种疾病分类学概念，即Askin肿瘤、尤因肉瘤和外周神经上皮瘤代表同一肿瘤的表型变异，即外周原始神经外胚层肿瘤。