The tyrosine kinase Abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13):: Molecular cloning of both reciprocal transcripts

被引:93
作者
Cazzaniga, G
Tosi, S
Aloisi, A
Giudici, G
Daniotti, M
Pioltelli, P
Kearney, L
Biondi, A
机构
[1] Univ Milan, Ctr Ric Tettamanti, Nuovo Osped San Gerardo, Pediat Clin, I-20052 Monza, Italy
[2] Inst Mol Med, MRC, Mol Haematol Unit, Oxford, England
[3] Osped San Gerardo, Dipartimento Ematol, Monza, Italy
关键词
D O I
10.1182/blood.V94.12.4370.424k34_4370_4373
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The Ets variant gene 6 (ETV6/TEL) gene is rearranged in the majority of patients with 12p13 translocations fused to a number of different partners. We present here a case of acute myeloid leukemia M4 with eosinophilia (AML-M4Eo) positive for the CBFb/MYH11 rearrangement and carrying a t(1;12)(q25;p13) that involves the ETV6 gene at 12p13. By 3' rapid amplification of cDNA ends-polymerase chain reaction (3'RACE-PCR), a novel fusion transcript was identified between the ETV6 and the Abelson-related gene (ARG) at 1q25, resulting in a chimeric protein consisting of the HLH oligomerization domain of ETV6 and the SH2, SH3, and protein tyrosine kinase (PTK) domains of ARG. The reciprocal transcript ARG-ETV6 was also detected in the patient RNA by reverse transcriptase-polymerase chain reaction (RT-PCR), although at a lower expression level. The ARG gene encodes for a nonreceptor tyrosine kinase characterized by high homology with c-Abl in the TK, SH2, and SH3 domains. This is the first report on ARG involvement in a human malignancy. (C) 1999 by The American Society of Hematology.
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页码:4370 / 4373
页数:4
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