骶骨脊索瘤的细胞遗传学和分子细胞遗传学分析

Cytogenetic and molecular cytogenetic analysis of sacral chordoma.

作者信息

Bridge J A, Pickering D, Neff J R

机构信息

Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198-5440.

出版信息

Cancer Genet Cytogenet. 1994 Jul 1;75(1):23-5. doi: 10.1016/0165-4608(94)90210-0.

DOI:10.1016/0165-4608(94)90210-0

PMID:8039159

Abstract

A specific or characteristic anomaly has not yet been identified in chordoma. Cytogenetic analysis of a sacral chordoma from a 70-year-old male revealed the following chromosomal complement: 42,XY,add(1)(p11), -3,der(4)t(4;?;?18;?)(q12;?;?;), -6, -9, -14,der(16) t(4;?;16)(q12;?;q11), der(17)add(17)(p12) t(17;18)(q11;p11),der(18)del(18)(p11)add(18)(q?)[6]/42, idem,der(9)t(6;9)(q11;p11)[4]/46,XY[10]. In situ hybridization with chromosome-specific paint probes assisted in identifying several of the rearrangements formerly designated as marker chromosomes. Although some of the anomalies observed appear unique to this case, others are similar to those previously reported in chordoma.

摘要

脊索瘤中尚未发现特定的或特征性的异常。对一名70岁男性的骶骨脊索瘤进行细胞遗传学分析，结果显示其染色体组成为：42,XY,add(1)(p11), -3,der(4)t(4;?;?18;?)(q12;?;?;), -6, -9, -14,der(16) t(4;?;16)(q12;?;q11), der(17)add(17)(p12) t(17;18)(q11;p11),der(18)del(18)(p11)add(18)(q?)[6]/42, 相同,der(9)t(6;9)(q11;p11)[4]/46,XY[10]。使用染色体特异性涂染探针进行原位杂交，有助于识别一些以前被称为标记染色体的重排。虽然观察到的一些异常似乎是该病例所特有的，但其他一些与先前报道的脊索瘤异常相似。