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

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• 作者：Yuka Sugimoto^a ; ¹ ; ^{yuka2@clin.medic.mie-u.ac.jp" class="auth_mail" title="E-mail the corresponding author} ; Akiko Sada^b ; ¹ ; Yuji Shimokariya^c ; Fumihiko Monma^a ; Kohshi Ohishi^d ; Masahiro Masuya^a ; Tsutomu Nobori^c ; Toshimitsu Matsui^e ; Naoyuki Katayama^a ; ^{n-kata@clin.medic.mie-u.ac.jp" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Myeloproliferative neoplasm with eosinophilia ; FOXP1-PDGFRA ; imatinib
• 刊名：Cancer Genetics
• 出版年：2015
• 出版时间：October 2015
• 年：2015
• 卷：208
• 期：10
• 页码：508-512
• 全文大小：858 K

文摘

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.