Article
Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms.
Blood - 20 Aug 2009
Saint-Martin Cécile, Leroy Gwendoline, Delhommeau François, Panelatti Gérard, Dupont Sabrina, James Chloé, Plo Isabelle, Bordessoule Dominique, Chomienne Christine, Delannoy André, Devidas Alain, Gardembas-Pain Martine, Isnard Françoise, Plumelle Yves, Bernard Olivier, Vainchenker William, Najman Albert, Bellanné-Chantelot Christine
Abstract excerpt
The JAK2(V617F) mutation does not elucidate the phenotypic variability observed in myeloproliferative neoplasm (MPN) families. A putative tumor suppressor gene, TET2, was recently implicated in MPN and myelodysplastic syndromes through the identification of acquired mutations affecting hematopoietic stem cells. The present study analyzed the TET2 gene in 61 MPN cases from 42 families. Fifteen distinct mutations...
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