title: A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation.
abstract: The 8p11 myeloproliferative syndrome is a rare neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) gene located at chromosome 8p11-12. FGFR1 encodes a transmembrane receptor tyrosine kinase. The resultant fusion proteins are constitutively active tyrosine kinases that drive the proliferation of hematopoietic cells, whose uncontrolled growth can present as a myeloproliferative neoplasm. We report here the case of a 50-year-old man harboring the t(8;22)(p12;q11) chromosomal translocation in cells from both bone marrow and lymph nodes. He presented with acute leukemia and lymphoma with trilineage features. A novel mRNA in-frame fusion between exon 4 of the breakpoint cluster region (BCR) gene at chromosome 22q11 and exon 9 of FGFR1 gene on chromosome 8p11-12 was identified by reverse transcription polymerase chain reaction analysis and was confirmed by DNA sequencing. Because the patient was refractory to chemotherapy, cord blood transplantation was performed in progressive disease. It resulted in a successful outcome in which cytogenetic complete remission has been maintained for 2 years till date.
authors.affiliation: Division of Hematology and Oncology, Department of Medicine, Kurume University School of Medicine, Kurume, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Morishige
authors.forename: Eijiro
authors.initials: E
authors.lastname: Oku
authors.forename: Yuka
authors.initials: Y
authors.lastname: Takata
authors.forename: Yoshizo
authors.initials: Y
authors.lastname: Kimura
authors.forename: Fumiko
authors.initials: F
authors.lastname: Arakawa
authors.forename: Ritsuko
authors.initials: R
authors.lastname: Seki
authors.forename: Rie
authors.initials: R
authors.lastname: Imamura
authors.forename: Koichi
authors.initials: K
authors.lastname: Osaki
authors.forename: Michitoshi
authors.initials: M
authors.lastname: Hashiguchi
authors.forename: Kazuaki
authors.initials: K
authors.lastname: Yakushiji
authors.forename: Shinichi
authors.initials: S
authors.lastname: Mizuno
authors.forename: Koji
authors.initials: K
authors.lastname: Yoshimoto
authors.forename: Koji
authors.initials: K
authors.lastname: Nagafuji
authors.forename: Koichi
authors.initials: K
authors.lastname: Ohshima
authors.forename: Takashi
authors.initials: T
authors.lastname: Okamura
mesh_terms: D005312:Fetal Blood / Q000637:transplantation*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000628:therapy*; D051562:Proto-Oncogene Proteins c-bcr / Q000235:genetics*; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; D051496:Receptor, Fibroblast Growth Factor, Type 1; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr