Insertion (12;9)(p13;q34q34): a cryptic rearrangement involving ABL1/ETV6 fusion in a patient with Philadelphia-negative chronic myeloid leukemia

被引：23
|
作者：
Kelly, JoAnn C. [1 ]
Shahbazi, Nasrin [1 ]
Scheerle, Jay [1 ]
Jahn, Jennifer [1 ]
Suchen, Stephany [1 ]
Christacos, Nicole C. [1 ]
Mowrey, Philip N. [1 ]
Witt, Mary H. [2 ]
Hostetter, Alden [2 ]
Meloni-Ehrig, Aurelia M. [1 ]
机构：
[1] Quest Diagnost Nichols Inst, Cytogenet Dept, Chantilly, VA 20151 USA
[2] Rockingham Mem Hosp, Ctr Canc, Harrisonburg, VA 22801 USA
来源：
CANCER GENETICS AND CYTOGENETICS | 2009年 / 192卷 / 01期
关键词：
TYROSINE KINASE; ABL; GENE; TEL; BIOLOGY; PROTEIN;
D O I：
10.1016/j.cancergencyto.2009.02.012
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
We report a rare cryptic ins(12;9)(p13;q34q34), a chromosomal abnormality involving the ABL1 (9q34) and the ETV6 (alias TEL; 12p13) genes, detectable only by fluorescence in situ hybridization (FISH), in a patient with Philadelphia-negative chronic myeloid leukemia (CML). Using reverse 4',6-diamidino-2-phenylindole banding on metaphase cells, FISH analysis with BCR/ABL dual-fusion and ETV6 break-apart probes showed that a third ABL signal was inserted into 12p, splitting the ETV6 signal into two adjacent signals. CML patients with an ABL1/ETV6 fusion historically have demonstrated a variable and sometimes transient response to treatment with imatinib mesylate, which was also the case in the present patient. (C) 2009 Elsevier Inc. All rights reserved.
引用
收藏
页码：36 / 39
页数：4
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