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

Barbara Crescenzi; Roberta La Starza; Chiara Nozzoli; Stefania Ciolli; Caterina Matteucci; Silvia Romoli; Luigi Rigacci; Paolo Gorello; Alberto Bosi; Massimo F Martelli; Peter Marynen; Cristina Mecucci

doi:10.1016/j.cancergencyto.2007.03.004

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

Cancer Genet Cytogenet. 2007 Jul 1;176(1):67-71. doi: 10.1016/j.cancergencyto.2007.03.004.

Authors

Barbara Crescenzi¹, Roberta La Starza, Chiara Nozzoli, Stefania Ciolli, Caterina Matteucci, Silvia Romoli, Luigi Rigacci, Paolo Gorello, Alberto Bosi, Massimo F Martelli, Peter Marynen, Cristina Mecucci

Affiliation

¹ Department of Hematology, University of Perugia, IBiT Foundation (Fondazione IRCCS Biotecnologie nel Trapianto), via Brunamonti 51, 06122 Perugia, Italy.

PMID: 17574967
DOI: 10.1016/j.cancergencyto.2007.03.004

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 12*
Chromosomes, Human, Pair 5*
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Leukemia, Myelomonocytic, Chronic / genetics*
Male
Middle Aged
Oncogene Proteins, Fusion / genetics*
Translocation, Genetic*

Substances

ETV6-PDGFRB fusion protein, human
Oncogene Proteins, Fusion