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Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms.

Authors: Saint-Martin, C  Leroy, G  Delhommeau, F  Panelatti, G  Dupont, S  James, C  Plo, I  Bordessoule, D  Chomienne, C  Delannoy, A  Devidas, A  Gardembas-Pain, M  Isnard, F  Plumelle, Y  Bernard, O  Vainchenker, W  Najman, A  Bellanne-Chantelot, C   
Citation: Saint-Martin C, etal., Blood. 2009 Aug 20;114(8):1628-32. doi: 10.1182/blood-2009-01-197525. Epub 2009 Jun 29.
Pubmed: (View Article at PubMed) PMID:19564637
DOI: Full-text: DOI:10.1182/blood-2009-01-197525

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 were identified in 12 (20%) JAK2(V617F)-positive or -negative patients. In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different phases of her disease showed the sequential occurrence of JAK2(V617F) and TET2 mutations concomitantly to the disease evolution. Analysis of familial segregation confirmed that TET2 mutations were not inherited but somatically acquired. TET2 mutations were mainly observed (10 of 12) in patients with primary myelofibrosis or patients with polycythemia vera or essential thrombocythemia who secondarily evolved toward myelofibrosis or acute myeloid leukemia.

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CRRD Object Information
CRRD ID: 11038680
Created: 2016-02-19
Species: All species
Last Modified: 2016-02-19
Status: ACTIVE



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