促纤维增生性髓母细胞瘤中的衍生染色体（22）t（3；22）（q12；p11.1）

Derivative (22)t(3;22)(q12;p11.1) in desmoplastic medulloblastoma.

作者信息

Manor Esther, Bodner Lipa, Kachko Palina, Kapelushnik Josef

机构信息

Genetics Institute, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, P.O. Box 151, Be'er Sheva, 84501 Israel.

出版信息

Cancer Genet Cytogenet. 2010 Jan 15;196(2):175-8. doi: 10.1016/j.cancergencyto.2009.09.008.

DOI:10.1016/j.cancergencyto.2009.09.008

PMID:20082855

Abstract

Medulloblastoma is a malignant invasive embryonal tumor of the cerebellum, representing 15-30% of pediatric brain tumors. An i(17q) abnormality appears in 40% of medulloblastomas, and usually not as a sole aberration; however, cytogenetic data for medulloblastoma are limited. Cytogenetic work-up of tumors is an important tool for diagnosis and prognosis, and in some cases has led to the development of new therapeutic modalities. In the present case, cytogenetic analysis of a medulloblastoma revealed an unbalanced karyotype in all cells analyzed: 46,XY,der(22)t(3;22)(q12;p11.1). This sole unbalanced translocation led to partial trisomy of 3q. The significance of this finding and its role in the pathogenesis of medulloblastoma need further clarification.

摘要

髓母细胞瘤是一种小脑的恶性侵袭性胚胎性肿瘤，占儿童脑肿瘤的15% - 30%。40%的髓母细胞瘤存在i(17q)异常，且通常并非唯一的畸变；然而，关于髓母细胞瘤的细胞遗传学数据有限。肿瘤的细胞遗传学检查是诊断和预后的重要工具，在某些情况下还促成了新治疗模式的发展。在本病例中，对一例髓母细胞瘤的细胞遗传学分析显示，所有分析细胞的核型均不平衡：46,XY,der(22)t(3;22)(q12;p11.1)。这一唯一的不平衡易位导致了3q部分三体。这一发现的意义及其在髓母细胞瘤发病机制中的作用尚需进一步阐明。