Showing papers by "Marc-Henri Stern published in 1993"
Journal Article•
TL;DR: The molecular cloning of two examples of the rare but recurrent t(X;14) translocation are reported, with the first candidate gene potentially involved in the leukemogenic process of mature T cell proliferations named MTCP-1 (Mature T Cell Proliferation-1).
Abstract: T-cell lymphoproliferative diseases are often associated with recurrent chromosomal translocations involving T cell receptor genes (TCR) and genes that are thought to play a role in the pathogenesis of these diseases. Whereas numerous such genes have already been identified in acute T cell leukemias, no candidate gene has yet been identified to play a role in the heterogeneous group of T cell proliferations with a mature phenotype. We here report the molecular cloning of two examples of the rare but recurrent t(X;14) translocation. The first translocation was associated with a benign clonal proliferation in an ataxia telangiectasia patient and the second with a T cell prolymphocytic leukemia. Both translocations implicated the TCR alpha/delta locus and a common breakpoint region on chromosome Xq28. A previously unidentified gene, abnormally transcribed in both T cell proliferations, was characterized in the immediate proximity of the breakpoints. This Xq28 gene has no homology with known sequences, uses a complex alternative splicing pattern and demonstrates two short open reading frames. This gene, named MTCP-1 (Mature T Cell Proliferation-1) is the first candidate gene potentially involved in the leukemogenic process of mature T cell proliferations.
147 citations
Journal Article•
TL;DR: A new gene on Xq28 that may play a role in leukemogenesis is identified that has shown striking similarities with T-cell prolymphocytic leukemia.
Abstract: L'ataxie telangiectasie est une maladie genetique complexe dont le syndrome inclut un haut risque de developper une lymphoproliferation maligne. Chez environ 10% de ces patients, des remaniements chromosomiques clonaux sont observes dans une proportion importante des lymphocytes T sanguins, generalement sans consequence pour le patient. Les etudes cytologiques et phenotypiques de ces populations ont revele des similitudes remarquables avec les leucemies prolymphocytaires T. L'analyse moleculaire des remaniements chromosomiques a montre qu'ils etaient formes par la translocation d'un gene du TCR au niveau soit de la bande 14q32.1 soit de la bande Xq28
1 citations