Author/Authors :
Crescenzi، نويسنده , , Barbara and La Starza، نويسنده , , Roberta and Nozzoli، نويسنده , , Chiara and Ciolli، نويسنده , , Stefania and Matteucci، نويسنده , , Caterina and Romoli، نويسنده , , Silvia and Rigacci، نويسنده , , Luigi and Gorello، نويسنده , , Paolo and Bosi، نويسنده , , Alberto M. Martelli، نويسنده , , Massimo F. and Marynen، نويسنده , , Peter and Mecucci، نويسنده , , Cristina، نويسنده ,
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.
lar 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.
