title: A novel t(3;12)(q21;p13) translocation in a patient with accelerated chronic myeloid leukemia after imatinib and nilotinib therapy.
abstract: The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration.
authors.affiliation: Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse 4000, Tunisia;
authors.forename: Ayda
authors.initials: A
authors.lastname: Bennour
authors.forename: Ikram
authors.initials: I
authors.lastname: Tabka
authors.forename: Yosra
authors.initials: Y
authors.lastname: Ben Youssef
authors.forename: Zahra
authors.initials: Z
authors.lastname: Kmeira
authors.forename: Abderrahim
authors.initials: A
authors.lastname: Khelif
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
authors.forename: Halima
authors.initials: H
authors.lastname: Sennana
keywords: 12)(q21; Philadelphia chromosome; accelerated phase; chronic myeloid leukemia; fluorescence in situ hybridization; p13); t(3