原发性神经母细胞瘤的直接细胞遗传学分析

Direct cytogenetic analysis of primary neuroblastoma.

作者信息

Petković I, Nakić M, Cepulić M

机构信息

Institut for Mother and Child Health, Zagreb, Yugoslavia.

出版信息

Cancer Genet Cytogenet. 1989 Oct 1;42(1):147-52. doi: 10.1016/0165-4608(89)90018-6.

DOI:10.1016/0165-4608(89)90018-6

PMID:2790743

Abstract

In this paper the results of cytogenetic analysis of a metastatic neuroblastoma from a 14-month-old boy are described. Direct cytogenetic analysis was performed on tumor pieces obtained from surgery prior to therapy. Consistent numerical and structural chromosome aberrations were identified. The modal chromosome number was 48, with 9.4% of the cell population being in the near-tetraploid range. In all karyotyped cells, the Y chromosome was missing and additions of chromosomes 7 and 14 were identified. Two rearranged #1 were observed: del(1)(p22 or p31) and t(1;18)(p22 or p31;q11-12), resulting in monosomy of the distal segment of the short arm and trisomy of the long arm. In two cells, single minutes were found; this chromosomal aberration has been previously described in a case of metastatic neuroblastoma.

摘要

本文描述了一名14个月大男孩转移性神经母细胞瘤的细胞遗传学分析结果。在治疗前，对手术获取的肿瘤组织块进行了直接细胞遗传学分析。鉴定出一致的染色体数目和结构畸变。众数染色体数为48，9.4%的细胞群体处于近四倍体范围。在所有核型分析的细胞中，Y染色体缺失，并鉴定出7号和14号染色体增加。观察到两条重排的1号染色体：del(1)(p22或p31)和t(1;18)(p22或p31;q11 - 12)，导致短臂远端节段单体性和长臂三体性。在两个细胞中发现了单个微小体；这种染色体畸变先前在一例转移性神经母细胞瘤病例中已有描述。