title: Disruption of the ETV6 gene as a consequence of a rare translocation (12;12)(p13;q13) in treatment-induced acute myeloid leukemia after breast cancer.
abstract: We describe a case of treatment-induced acute myeloid leukemia M2 after breast cancer with a rare reciprocal t(12;12)(p13;q13) as a secondary cytogenetic abnormality in addition to the t(11;19)(q23;p13.1). Fluorescence in situ hybridization analysis revealed that both ETV6 genes (previously TEL) were located on the same der(12)t(12;12) as a result of t(12;12). Interestingly, the translocated ETV6 gene was disrupted, indicating the breakpoint on the large der(12)t(12;12) to be within the ETV6 gene and thus the possible formation of a new fusion gene. CHOP gene at 12q13, was found to be translocated intact to the other homologue chromosome 12, indicating that the breakpoint on the small der(12) is proximal to CHOP. To the best of our knowledge, our patient represents the first report of the rare t(12;12)(p13;q13) described in treatment-induced leukemia and the possible formation of a new fusion gene.
authors: Laboratory of Cytogenetics, National Center for Scientific Research (NCSR) Demokritos, Terma Patriarchou Grigoriou & Neapoleos, Athens, Greece. pmanola@ipta.demokritos.gr
authors: Kalliopi N
authors: KN
authors: Manola
authors: Vasileios N
authors: VN
authors: Georgakakos
authors: Dimitris
authors: D
authors: Margaritis
authors: Chryssa
authors: C
authors: Stavropoulou
authors: Christos
authors: C
authors: Panos
authors: Ioannis
authors: I
authors: Kotsianidis
authors: Gabriel E
authors: GE
authors: Pantelias
authors: Constantina
authors: C
authors: Sambani
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects*; D001943:Breast Neoplasms / Q000188:drug therapy*; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D005260:Female; D050939:Gene Fusion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000139:chemically induced* / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein