PMID- 17574967 OWN - NLM STAT- MEDLINE DCOM- 20070815 LR - 20070618 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 176 IP - 1 DP - 2007 Jul 1 TI - 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. PG - 67-71 AB - 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. FAU - Crescenzi, Barbara AU - Crescenzi B AD - Department of Hematology, University of Perugia, IBiT Foundation (Fondazione IRCCS Biotecnologie nel Trapianto), via Brunamonti 51, 06122 Perugia, Italy. FAU - La Starza, Roberta AU - La Starza R FAU - Nozzoli, Chiara AU - Nozzoli C FAU - Ciolli, Stefania AU - Ciolli S FAU - Matteucci, Caterina AU - Matteucci C FAU - Romoli, Silvia AU - Romoli S FAU - Rigacci, Luigi AU - Rigacci L FAU - Gorello, Paolo AU - Gorello P FAU - Bosi, Alberto AU - Bosi A FAU - Martelli, Massimo F AU - Martelli MF FAU - Marynen, Peter AU - Marynen P FAU - Mecucci, Cristina AU - Mecucci C LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (ETV6-PDGFRB fusion protein, human) RN - 0 (Oncogene Proteins, Fusion) SB - IM MH - *Chromosomes, Human, Pair 1 MH - *Chromosomes, Human, Pair 12 MH - *Chromosomes, Human, Pair 5 MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myelomonocytic, Chronic/*genetics MH - Male MH - Middle Aged MH - Oncogene Proteins, Fusion/*genetics MH - *Translocation, Genetic EDAT- 2007/06/19 09:00 MHDA- 2007/08/19 09:00 CRDT- 2007/06/19 09:00 PHST- 2007/01/19 00:00 [received] PHST- 2007/03/04 00:00 [revised] PHST- 2007/03/09 00:00 [accepted] PHST- 2007/06/19 09:00 [pubmed] PHST- 2007/08/19 09:00 [medline] PHST- 2007/06/19 09:00 [entrez] AID - S0165-4608(07)00142-2 [pii] AID - 10.1016/j.cancergencyto.2007.03.004 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2007 Jul 1;176(1):67-71. doi: 10.1016/j.cancergencyto.2007.03.004.