The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1

被引：46

作者：

Hidalgo-Curtis, Claire ^{[1
,2
]}

Chase, Andrew ^{[1
,2
]}

Drachenberg, Milton ^{[3
]}

Roberts, Mark W. ^{[3
]}

Finkelstein, Jerry Z. ^{[3
]}

Mould, Sarah ^{[4
]}

Oscier, David ^{[4
]}

Cross, Nicholas C. P. ^{[1
,2
]}

Grand, Francis H. ^{[1
,2
]}

机构：

[1] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England

[2] Univ Southampton, Div Human Genet, Southampton, Hants, England

[3] Long Beach Mem Med Ctr, Long Beach, CA 90801 USA

[4] Royal Bournemouth Hosp, Dept Hematol, Bournemouth, Dorset, England

来源：

GENES CHROMOSOMES & CANCER | 2008年 / 47卷 / 05期

关键词：

D O I：

10.1002/gcc.20541

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We have investigated two patients with acquired chromosomal rearrangements, a male presenting with a t(1;9)(p34:q34) and B cell progenitor acute lymphoid leukemia and a female presenting with a t(8;12)(p11;q15) and the 8p11 myeloproliferative syndrome. We determined that the t(1;9) fused ABL to SFPQ (also known as PSF), a gene mapping to 1p34 that encodes a polypyrimidine tract-binding protein-associated splicing factor. The t(8; 12) fused CPSF6, a cleavage and polyadenylation specificity factor, to FGFR I. The fusions were confirmed by amplification of the genomic breakpoints and RT-PCR. The predicted oncogenic products of these fusions, SFPQ-ABL and CPSF6-FGFR1, are in-frame and encode the N-terminal domain of the partner protein and the entire tyrosine kinase domain and C-terminal sequences of ABL and FGFR1. SFPQ interacts with two FGFR I fusion partners, ZNF 198 and CPSF6, that are functionally related to the recurrent PDGFR alpha partner FIP1L1. Our findings thus identify a group of proteins that are important for pre-mRNA processing as fusion partners for tyrosine kinases in hematological malignancies. (C) 2008 Wiley-Liss, Inc.

引用

页码：379 / 385

页数：7

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