一名骨髓增生异常综合征患者的5号染色体的三种重排：一种非典型的5q缺失、一种5号染色体复杂的染色体内重排以及一种5号染色体的臂内倒位。

Three rearrangements of chromosome 5 in a patient with myelodysplastic syndrome: an atypical deletion 5q, a complex intrachromosomal rearrangement of chromosome 5, and a paracentric inversion of chromosome 5.

作者信息

Douet-Guilbert Nathalie, Basinko Audrey, Eveillard Jean-Richard, Morel Frédéric, Le Bris Marie-Josée, Guéganic Nadia, Bovo Clément, Herry Angèle, Berthou Christian, De Braekeleer Marc

机构信息

Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.

出版信息

Cancer Genet Cytogenet. 2010 Dec;203(2):303-8. doi: 10.1016/j.cancergencyto.2010.07.129.

DOI:10.1016/j.cancergencyto.2010.07.129

PMID:21156249

Abstract

We report the case of a 74-year-old man who sought care for de novo myelodysplastic syndrome (RAEB-1). Conventional cytogenetic techniques showed a karyotype with two different deletions of the long arm of chromosome 5 distributed in three clones: 46,XY,del(1)(p34),del(5)(q14q23)[2]/46,XY,del(1)(p34),del(5)(q14q34)[10]/46,idem,inv(5)(q?11q?34)[7]. Precise characterization of the breakpoints, delineation of the deleted regions, identification of the complex intrachromosomal rearrangement of chromosome 5, and sequential accumulation of chromosomal abnormalities were elucidated by several fluorescence in situ hybridization analyses. We also assessed the clinical, biological, and cytogenetic evolution under lenalidomide treatment and after its interruption.

摘要

我们报告了一例74岁男性因初发性骨髓增生异常综合征（RAEB-1）前来就诊的病例。传统细胞遗传学技术显示其核型存在两个不同的5号染色体长臂缺失，分布于三个克隆中：46,XY,del(1)(p34),del(5)(q14q23)[2]/46,XY,del(1)(p34),del(5)(q14q34)[10]/46,idem,inv(5)(q?11q?34)[7]。通过多次荧光原位杂交分析阐明了断点的精确特征、缺失区域的划定、5号染色体复杂的染色体内重排以及染色体异常的顺序积累。我们还评估了来那度胺治疗期间及其中断后的临床、生物学和细胞遗传学演变情况。