TY - JOUR
T1 - 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
AU - Lahortiga, Idoya
AU - Agirre, Xabier
AU - Belloni, Elena
AU - Vázquez, Iria
AU - Larrayoz, María J.
AU - Gasparini, Patrizia
AU - Lo Coco, Francesco
AU - Pelicci, Pier Giuseppe
AU - Calasanz, María J.
AU - Odero, María D.
PY - 2004/1/8
Y1 - 2004/1/8
N2 - 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).
AB - 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).
KW - 1p36
KW - 3q21
KW - MDS (RAEB)
KW - PRDM16/MEL1
KW - RPN1
UR - http://www.scopus.com/inward/record.url?scp=9144239820&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=9144239820&partnerID=8YFLogxK
U2 - 10.1038/sj.onc.1206923
DO - 10.1038/sj.onc.1206923
M3 - Article
C2 - 14712237
AN - SCOPUS:9144239820
VL - 23
SP - 311
EP - 316
JO - Oncogene
JF - Oncogene
SN - 0950-9232
IS - 1
ER -