title: Development of acute lymphoblastic leukemia with IgH-EPOR in a patient with secondary erythrocytosis.
abstract: We report the first patient to develop ALL with a fusion gene of the erythropoietin receptor (EPOR) with immunoglobulin heavy chain (IgH) 22 years after a diagnosis of secondary erythrocytosis with unknown etiology. The IgH-EPOR rearrangement is known to induce increased expression of EPOR, and activates EPO-associated signal pathways by exogenous EPO stimulation, resulting in the increased proliferation and survival of IgH-EPOR-positive leukemic cells. Interestingly, this case may provide supporting the possibility that IgH-EPOR-positive ALL has a growth advantage under sustained high concentrations of EPO.
authors.affiliation: Department of Pediatrics, Maizuru Medical Center, Maizuru, Japan. smotti@koto.kpu-m.ac.jp.|Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan. smotti@koto.kpu-m.ac.jp.
authors.forename: Kenichi
authors.identifier: http://orcid.org/0000-0003-1499-538X
authors.initials: K
authors.lastname: Sakamoto
authors.affiliation: Department of Pediatrics, Maizuru Medical Center, Maizuru, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Tanaka
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Chihiro
authors.initials: C
authors.lastname: Tomoyasu
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tomii
authors.affiliation: Department of Pediatrics, Maizuru Medical Center, Maizuru, Japan.
authors.forename: Mio
authors.initials: M
authors.lastname: Yano
authors.affiliation: Department of Hematology and Immunology, Maizuru Kyosai Hospital, Maizuru, Japan.
authors.forename: Kazutaka
authors.initials: K
authors.lastname: Takagi
authors.affiliation: Department of Hematology, Japanese Red Cross Kyoto Daini Hospital, Kyoto, Japan.
authors.forename: Tsutsumi
authors.initials: T
authors.lastname: Yasuhiko
authors.affiliation: Department of Hematology, Japanese Red Cross Kyoto Daini Hospital, Kyoto, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Uoshima
authors.affiliation: Department of Pediatrics, Maizuru Medical Center, Maizuru, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Komatsu
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Imamura
mesh_terms: D002648:Child; D050939:Gene Fusion; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D008297:Male; D011086:Polycythemia / Q000150:complications* / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000235:genetics*; D017467:Receptors, Erythropoietin / Q000235:genetics*
chemical_list: D007143:Immunoglobulin Heavy Chains; D017467:Receptors, Erythropoietin
keywords: Acute lymphoblastic leukemia; IgH-EPOR; Secondary erythrocytosis