A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia

Cancer Genetics
Yuka SugimotoNaoyuki Katayama

Abstract

We identified a novel fusion gene, FOXP1-PDGFRA, in a patient with myeloproliferative neoplasm (MPN) with eosinophilia, harboring the chromosome abnormality t(3;4)(p13;q12). The patient responded well to imatinib and has remained in molecular remission for 3 years. This is the seventh fusion gene involving PDGFRA in MPN with eosinophilia. PDGFRA was truncated in its autoinhibitory domain, as in other PDGFRA-related MPNs, and was fused to FOXP1 at its functional forkhead domain. Comparing genomic DNA with mRNA sequences provides the possibility that the splicing process near the breakpoint junction in the FOXP1-PDGFRA fusion gene may use the normal splice donor site for intron 23a of FOXP1 and the cryptic splice acceptor site in exon 12 of PDGFRA. This is the first report to describe the FOXP1-PDGFRA fusion gene in MPN.

References

May 25, 2002·Human Molecular Genetics·E Joanna BaxterNicholas C P Cross
Apr 19, 2007·Cancer Research·Miranda BuitenhuisPaul J Coffer
Jun 9, 2007·British Journal of Haematology·Claire E CurtisNicholas C P Cross
Mar 12, 2011·British Journal of Haematology·Thomas ErnstFrancish Grand

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Citations

Sep 30, 2016·Leukemia & Lymphoma·Duncan M Gascoyne, Alison H Banham
Dec 19, 2016·Trends in Molecular Medicine·Katelyn N NelsonDaniel J Donoghue

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