儿童B系急性淋巴细胞白血病中隐匿性t(12;21)(p13;q22)的荧光原位杂交分析

Fluorescence in situ hybridization analysis of the cryptic t(12;21) (p13;q22) in childhood B-lineage acute lymphoblastic leukemia.

作者信息

Yehuda-Gafni Orly, Cividalli Gabriel, Abrahmov Ayala, Weintrob Michael, Neriah Susana Ben, Cohen Rachel, Abeliovich Dvorah

机构信息

Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem 91120, Israel.

出版信息

Cancer Genet Cytogenet. 2002 Jan 1;132(1):61-4. doi: 10.1016/s0165-4608(01)00530-1.

DOI:10.1016/s0165-4608(01)00530-1

PMID:11801311

Abstract

We evaluated retrospectively the cryptic t(12;21)(p13;q22) in 15 children with early B-lineage acute lymphocytic leukemia who had a normal karyotype by using the locus specific probes of TEL and AML1 genes in a dual color fluorescence in situ hybridization (FISH). The FISH analysis revealed six patients with the fusion gene TEL/AML1 on chromosome 21, three of whom possessed a double fusion gene. In addition, the AML1 probe revealed hyperdiploid clones that were not detected in the conventional cytogenetic analysis. A discrepancy between the proportion of cells with the fusion gene in interphase nuclei and metaphases was noted.

摘要

我们采用双色荧光原位杂交（FISH）技术，利用TEL和AML1基因的位点特异性探针，对15例核型正常的早期B系急性淋巴细胞白血病患儿的隐匿性t(12;21)(p13;q22)进行了回顾性评估。FISH分析显示，6例患者21号染色体上存在融合基因TEL/AML1，其中3例拥有双融合基因。此外，AML1探针显示出超二倍体克隆，这在传统细胞遗传学分析中未被检测到。我们注意到间期核与中期具有融合基因的细胞比例存在差异。