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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 characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells
Autor(es) : Lahortiga, I. (Idoya)
Aguirre, X. (Xavier)
Belloni, E. (E.)
Vazquez, I. (Iria)
Larrayoz, M.J. (María J.)
Gasparini, P. (P.)
Lo-Coco, F. (Francesco)
Pelicci, P.G. (Pier G.)
Calasanz-Abinzano, M.J. (Maria Jose)
Odero, M.D. (Maria Dolores)
Palabras clave : PRDM16/MEL1
RPN1
1p36
3q21
MDS (RAEB)
Fecha incorporación: 2004
Editorial : Nature Publishing Group
Versión del editor: http://www.nature.com/onc/journal/v23/n1/full/1206923a.html
ISSN: 1476-5594
Cita: Lahortiga I, Agirre X, Belloni E, Vazquez I, Larrayoz MJ, Gasparini P, et al. Molecular characterization of a t(1;3)(p36;q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t(1;3) cells. Oncogene 2004 Jan 8;23(1):311-316.
Resumen
Patients with myeloid malignancies and either the 3q21q26 syndrome or t(1;3)(p36;q21) have been reported to share similar clinicopathological features and a common molecular mechanism for leukemogenesis. Overexpression of MDS1/EVI1 (3q26) or MEL1/PRDM16 (1p36), both members of the PR-domain family, has been directly implicated in the malignant transformation of this subset of neoplasias. The breakpoints in both entities are outside the genes, and the 3q21 region, where RPN1 is located, seems to act as an enhancer. MEL1 has been reported to be expressed in leukemia cells with t(1;3) and in the normal uterus and fetal kidney, but neither in bone marrow (BM) nor in other tissues, suggesting that this gene is specific to t(1;3)-positive MDS/AML. We report the molecular characterization of a t(1;3)(p36;q21) in a patient with MDS (RAEB-2). In contrast to previous studies, we demonstrate that MEL1, the PR-containing form, and MEL1S, the PR-lacking form, are widely expressed in normal tissues, including BM. The clinicopathological features and the breakpoint on 1p36 are different from cases previously described, and MEL1 is not overexpressed, suggesting a heterogeneity in myeloid neoplasias with t(1;3).
Enlace permanente: http://hdl.handle.net/10171/19578
Aparece en las colecciones: DA - CIMA - Oncología - Genética - Artículos de revista
DA - Ciencias - Genética - Artículos de revista

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Fichero:  2004 Oncogene MEL1.pdf
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