title: Molecular cytogenetic findings in a four-way t(1;12;5;12)(p36;p13;q33;q24) underlying the ETV6-PDGFRB fusion gene in chronic myelomonocytic leukemia.
abstract: Fluorescence in situ hybridization (FISH) and reverse-transcription polymerase chain reaction (RT-PCR) detected the ETV6-PDGFRB fusion in a patient with chronic myelomonocytic leukemia characterized by bone marrow and peripheral blood eosinophilia and a four-way t(1;12;5;12)(p36;p13;q33;q24) on bone marrow cells. The patient consequently underwent imatinib mesylate therapy and achieved hematologic, FISH, and molecular remission. The FICTION technique (fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms) demonstrated that eosinophils and CD13(+) and CD14(+) cells belong to the neoplastic clone bearing the ETV6-PDGFRB rearrangement. Molecular cytogenetics is the most reliable approach to detect the involvement of promiscuous genes, such as PDGFRB, and to properly classify genetic entities for which targeted therapies are available. Assessment of cell lineages harboring the genomic lesion may contribute in the understanding of leukemogenic pathways.
authors.affiliation: Department of Hematology, University of Perugia, IBiT Foundation (Fondazione IRCCS Biotecnologie nel Trapianto), via Brunamonti 51, 06122 Perugia, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Chiara
authors.initials: C
authors.lastname: Nozzoli
authors.forename: Stefania
authors.initials: S
authors.lastname: Ciolli
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.forename: Silvia
authors.initials: S
authors.lastname: Romoli
authors.forename: Luigi
authors.initials: L
authors.lastname: Rigacci
authors.forename: Paolo
authors.initials: P
authors.lastname: Gorello
authors.forename: Alberto
authors.initials: A
authors.lastname: Bosi
authors.forename: Massimo F
authors.initials: MF
authors.lastname: Martelli
authors.forename: Peter
authors.initials: P
authors.lastname: Marynen
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic; D020797:Receptor, Platelet-Derived Growth Factor beta; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D015514:Oncogene Proteins, Fusion; C464679:ETV6-PDGFRB fusion protein, human; D020797:Receptor, Platelet-Derived Growth Factor beta; D000097764:ETS Translocation Variant 6 Protein