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

被引：21

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.

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页码：36 / 39

页数：4

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