title: A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia.
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.
authors: Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan. Electronic address: yuka2@clin.medic.mie-u.ac.jp.
authors: Yuka
authors: Y
authors: Sugimoto
authors: Hematology, Department of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.
authors: Akiko
authors: A
authors: Sada
authors: Central Clinical Laboratories, Mie University Hospital, Tsu, Japan.
authors: Yuji
authors: Y
authors: Shimokariya
authors: Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan.
authors: Fumihiko
authors: F
authors: Monma
authors: Blood Transfusion Service, Mie University Hospital, Tsu, Japan.
authors: Kohshi
authors: K
authors: Ohishi
authors: Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan.
authors: Masahiro
authors: M
authors: Masuya
authors: Central Clinical Laboratories, Mie University Hospital, Tsu, Japan.
authors: Tsutomu
authors: T
authors: Nobori
authors: Department of Hematology, Nishiwaki Municipal Hospital, Nishiwaki, Japan.
authors: Toshimitsu
authors: T
authors: Matsui
authors: Department of Hematology and Oncology, Mie University Graduate School of Medicine, Tsu, Japan. Electronic address: n-kata@clin.medic.mie-u.ac.jp.
authors: Naoyuki
authors: N
authors: Katayama
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D020732:Cytogenetic Analysis; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D000068877:Imatinib Mesylate / Q000627:therapeutic use; D007938:Leukemia; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics / Q000378:metabolism*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D000970:Antineoplastic Agents; C486626:FOXP1 protein, human; D051858:Forkhead Transcription Factors; D015514:Oncogene Proteins, Fusion; D012097:Repressor Proteins; D000068877:Imatinib Mesylate; D020796:Receptor, Platelet-Derived Growth Factor alpha
keywords: FOXP1-PDGFRA; Myeloproliferative neoplasm with eosinophilia; imatinib