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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 heterogeneity in AML/MDS patients with 3q21q26 rearrangements
Authors: Lahortiga, I. (Idoya)
Vazquez, I. (Iria)
Aguirre, X. (Xavier)
Larrayoz, M.J. (María J.)
Vizmanos, J.L. (José Luis)
Gozzetti, A. (A.)
Calasanz, M.J. (María José)
Odero, M.D. (María D.)
Keywords: Genetic Heterogeneity
Leukemia, Myeloid/genetics
Myelodysplastic Syndromes/genetics
Recombination, Genetic/genetics
Issue Date: 2004
Publisher: Wiley-Blackwell
Publisher version: http://bit.ly/vvvUlh
ISSN: 1098-2264
Citation: Lahortiga I, Vazquez I, Agirre X, Larrayoz MJ, Vizmanos JL, Gozzetti A, et al. Molecular heterogeneity in AML/MDS patients with 3q21q26 rearrangements. Genes Chromosomes Cancer 2004 Jul;40(3):179-189.
Abstract
Patients with 3q21q26 rearrangements seem to share similar clinicopathologic features and a common molecular mechanism, leading to myelodysplasia or acute myeloid leukemia (AML). The ectopic expression of EVI1 (3q26) has been implicated in the dysplasia that characterizes this subset of myeloid neoplasias. However, lack of EVI1 expression has been reported in several cases, and overexpression of EVI1 was detected in 9% of AML cases without 3q26 abnormalities. We report the molecular characterization of seven patients with inv(3)(q21q26), t(3;3)(q21;q26) or related abnormalities. EVI1 expression was detected in only one case, and thus ectopic expression of this gene failed to explain all of these cases. GATA2 (3q21) was found to be overexpressed in 5 of the 7 patients. GATA2 is highly expressed in stem cells, and its expression dramatically decreases when erythroid and megakaryocytic differentiation proceeds. No mutations in GATA1 were found in any patient, excluding loss of function of GATA1 as the cause of GATA2 overexpression. We report finding molecular heterogeneity in patients with 3q21q26 rearrangements in both breakpoints and in the expression pattern of the genes near these breakpoints. Our data suggest that a unique mechanism is not likely to be involved in 3q21q26 rearrangements.
Permanent link: http://hdl.handle.net/10171/19572
Appears in Collections:DA - CIMA - Oncología - Genética - Artículos de revista
DA - Ciencias - Genética - Artículos de revista

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