两例伴有双等臂20号染色体异常的骨髓增生异常综合征的临床与实验研究

[Clinical and experimental study of two cases of myelodysplastic syndromes with double isochromosome 20q- anomaly].

作者信息

Gong Sheng-lan, Xue Yong-quan, Wang Jian-min, Han Feng-lai, Xu Yan-qun, Li Jin-ying

机构信息

Department of Hematology, Changhai Hospital, Second Military Medical University, Shanghai 200433, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2005 Jan;26(1):35-8.

PMID:15946507

Abstract

OBJECTIVE

To explore the clinical and laboratory characteristics of two myelodysplastic syndromes (MDS) patients with double isochromosome 20q- anomaly.

METHODS

Bone marrow cell chromosome preparations were made with both direct method and short-term culture. Karyotype analysis was performed by R-banding technique, and dual-color FISH (fluorescence in situ hybridization) by using a 20q telomeric probe and a sequence-specific probe for 20q12.

RESULTS

The clinical and hematological findings were comparable with diagnosis of MDS. Karyotype analysis showed that both patients had double isochromosome 20q- anomaly: case 1 is 46, XX, der(20)? i(20q-) [6]/46, idem, der (6) i (6p) [1]/47, idem, +der (20)? i (20q-) [3]/47, idem, der(6)i (6p), +der(20)? i (20q-) [20]; case 2 is 45, XY, -7, der (20)? i (20q-) [17]/46, idem, +der(20) ? i(20q-) [3]. Two derivative chromosomes 20 were proved 20q isochromosomes with interstitial deletions by dual-color FISH in one patient.

CONCLUSIONS

Double isochromosome 20q- anomaly is a rare recurrent karyotype abnormality in MDS, and signals a poor prognosis.

摘要

目的

探讨两名患有双等臂20号染色体异常的骨髓增生异常综合征（MDS）患者的临床和实验室特征。

方法

采用直接法和短期培养法制备骨髓细胞染色体标本。用R显带技术进行核型分析，并用20号染色体端粒探针和20q12序列特异性探针进行双色荧光原位杂交（FISH）。

结果

临床和血液学检查结果与MDS诊断相符。核型分析显示两名患者均有双等臂20号染色体异常：病例1为46,XX,der(20)?i(20q -)[6]/46,同型,der(6)i(6p)[1]/47,同型,+der(20)?i(20q -)[3]/47,同型,der(6)i(6p),+der(20)?i(20q -)[20]；病例2为45,XY,-7,der(20)?i(20q -)[17]/46,同型,+der(20)?i(20q -)[3]。双色FISH证实一名患者的两条衍生20号染色体为带有中间缺失的20号等臂染色体。