title: Marked response to imatinib mesylate in a patient with platelet-derived growth factor receptor beta-associated acute myeloid leukemia.
abstract: Abnormal platelet-derived growth factor receptor (PDGFR)-mediated signaling may cause hematologic neoplasm. The PDGFR beta (PDGFRB) gene, located at chromosome band 5q31-33, forms a fusion gene as a result of chromosome translocation. Although patients with PDGFRB rearrangement mostly present with myeloproliferative neoplasm and eosinophilia, acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) have also been reported in this population. Treatment with imatinib mesylate alone has been shown to have excellent long-term efficacy against myeloproliferative neoplasms; however, its long-term effects on ALL and AML have not been elucidated. A 75-year-old man was diagnosed with acute myeloid leukemia having the PDGFRB and cGMP-dependent protein kinase 2 fusion gene with additional genetic abnormalities. Continuous therapy with single-agent imatinib mesylate resulted in cytogenetic remission and decreased molecular burden for 9 months; however, the leukemia subsequently recurred, and the patient died 1 year after initiation of treatment. This case report supports the importance of cytogenetic analysis during patient screening.
authors.affiliation: Department of Hematology, Kobe City Hospital Organization Kobe City Medical Center General Hospital, 2-1-1 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. shimomura_0119@yahoo.co.jp.
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Shimomura
authors.affiliation: Department of Clinical Laboratory, Kobe City Hospital Organization Kobe City Medical Center General Hospital, 2-1-1 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Hayato
authors.initials: H
authors.lastname: Maruoka
authors.affiliation: Department of Hematology, Kobe City Hospital Organization Kobe City Medical Center General Hospital, 2-1-1 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Ishikawa
mesh_terms: D000368:Aged; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D062967:Cyclic GMP-Dependent Protein Kinase Type II / Q000235:genetics; D020732:Cytogenetic Analysis; D017809:Fatal Outcome; D050939:Gene Fusion / Q000235:genetics; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D000068877:Imatinib Mesylate / Q000627:therapeutic use*; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics* / Q000502:physiology; D012074:Remission Induction; D015398:Signal Transduction / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D000970:Antineoplastic Agents; D000068877:Imatinib Mesylate; C000605860:PDGFRB protein, human; D020797:Receptor, Platelet-Derived Growth Factor beta; D062967:Cyclic GMP-Dependent Protein Kinase Type II
keywords: Acute myelogenous leukemia; Imatinib mesylate; Platelet-derived growth factor receptor beta; cGMP-dependent protein kinase 2