title: Identification of a MYO18A-PDGFRB fusion gene in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2).
abstract: Chromosomal aberrations of 5q31-33 associated with rearrangements of the platelet-derived growth factor receptor beta (PDGFRB) gene are rare but recurrent in patients with eosinophilia-associated atypical myeloproliferative neoplasms (Eos-MPNs). We used a DNA-based "long-distance inverse PCR" (LDI-PCR) to identify a new MYO18A-PDGFRB fusion gene in an Eos-MPN with associated t(5;17)(q33-34;q11.2). MYO18A is the fourth partner gene after BCR, ETV6 and SPTBN1 that fuses to more than one tyrosine kinase gene. Treatment with imatinib (400 mg/day) led to rapid and sustained complete hematologic, cytogenetic and molecular remission. Patients with PDGFRB fusions genes are excellent candidates for treatment with imatinib; complete cytogenetic and even molecular remissions are common while primary or secondary resistance seems to be very rare.
authors.affiliation: III. Medizinische Klinik, Universitätsmedizin Mannheim, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Walz
authors.forename: Claudia
authors.initials: C
authors.lastname: Haferlach
authors.forename: Annette
authors.initials: A
authors.lastname: Hänel
authors.forename: Georgia
authors.initials: G
authors.lastname: Metzgeroth
authors.forename: Philipp
authors.initials: P
authors.lastname: Erben
authors.forename: Darko
authors.initials: D
authors.lastname: Gosenca
authors.forename: Andreas
authors.initials: A
authors.lastname: Hochhaus
authors.forename: Nicholas C P
authors.initials: NC
authors.lastname: Cross
authors.forename: Andreas
authors.initials: A
authors.lastname: Reiter
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D001549:Benzamides; D020223:Chromosome Painting; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics / Q000378:metabolism; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics / Q000378:metabolism; D004802:Eosinophilia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D050939:Gene Fusion; D006801:Humans; D000068877:Imatinib Mesylate; D008297:Male; D008875:Middle Aged; D050506:Mutant Chimeric Proteins / Q000235:genetics* / Q000378:metabolism; D054437:Myelodysplastic-Myeloproliferative Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009218:Myosins / Q000235:genetics* / Q000378:metabolism; D010879:Piperazines / Q000627:therapeutic use; D016133:Polymerase Chain Reaction; D011743:Pyrimidines / Q000627:therapeutic use; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics* / Q000378:metabolism; D014178:Translocation, Genetic
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D000068877:Imatinib Mesylate; D050506:Mutant Chimeric Proteins; D009218:Myosins; D010879:Piperazines; D011743:Pyrimidines; D020797:Receptor, Platelet-Derived Growth Factor beta; C407152:MYO18A protein, human