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Dadun > Depósito Académico > CIMA (Centro de Investigación Médica Aplicada) > Área de Oncología > Genética > DA - CIMA - Oncología - Genética - Artículos de revista >

Molecular cytogenetic characterization of breakpoints in 19 patients with hematologic malignancies and 12p unbalanced translocations
Authors: Odero, M.D. (María D.)
Carlson, K. (K.)
Lahortiga, I. (Idoya)
Calasanz, M.J. (María José)
Rowley, J.D. (Janet D.)
Keywords: Chromosome Breakage/genetics
Chromosomes, Human, Pair 12/genetics
Hematologic Neoplasms/genetics
Translocation, Genetic/genetics
Issue Date: 2003
Publisher: Elsevier
Publisher version: http://www.sciencedirect.com/science/article/pii/S0165460802007288
ISSN: 1873-4456
Citation: Odero MD, Carlson K, Lahortiga I, Calasanz MJ, Rowley JD. Molecular cytogenetic characterization of breakpoints in 19 patients with hematologic malignancies and 12p unbalanced translocations. Cancer Genet Cytogenet 2003 Apr 15;142(2):115-119.
Abstract
Structural rearrangements of the short arm of chromosome 12 are frequent cytogenetic findings in various hematologic malignancies. The ETV6 gene is the most common target for rearrangements in 12p13. Fluorescence in situ hybridization (FISH) investigations have shown that translocations of 12p other than t(12;21) are frequently accompanied by small interstitial deletions that include ETV6. Unbalanced translocations involving ETV6 have rarely been described, and breakpoints outside ETV6 appear to be strongly associated with complex karyotypes. We studied bone marrow samples from 19 patients known to have 12p unbalanced translocations and complex karyotypes, using FISH and spectral karyotyping. FISH analysis confirmed the hemizygous deletion of the ETV6 and CDKN1B genes in 74% of cases. We found four cases with interstitial deletions. In these four cases and in two others (6/19, 31.5%), the fusion with the partner chromosome was in the subtelomeric region of 12p13.3, confirming that there is a recurrent breakpoint in this region.
Permanent link: http://hdl.handle.net/10171/19599
Appears in Collections:DA - CIMA - Oncología - Genética - Artículos de revista
DA - Ciencias - Genética - Artículos de revista

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