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.
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.
Crescenzi
Barbara
B
Department of Hematology, University of Perugia, IBiT Foundation (Fondazione IRCCS Biotecnologie nel Trapianto), via Brunamonti 51, 06122 Perugia, Italy.
La Starza
Roberta
R
Nozzoli
Chiara
C
Ciolli
Stefania
S
Matteucci
Caterina
C
Romoli
Silvia
S
Rigacci
Luigi
L
Gorello
Paolo
P
Bosi
Alberto
A
Martelli
Massimo F
MF
Marynen
Peter
P
Mecucci
Cristina
C
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
D015514:Oncogene Proteins, Fusion; C464679:ETV6-PDGFRB fusion protein, human; D020797:Receptor, Platelet-Derived Growth Factor beta; D000097764:ETS Translocation Variant 6 Protein