| pubmed-article:19262599 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:19262599 | lifeskim:mentions | umls-concept:C0221013 | lld:lifeskim |
| pubmed-article:19262599 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:19262599 | lifeskim:mentions | umls-concept:C1825692 | lld:lifeskim |
| pubmed-article:19262599 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
| pubmed-article:19262599 | lifeskim:mentions | umls-concept:C0332183 | lld:lifeskim |
| pubmed-article:19262599 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:19262599 | pubmed:dateCreated | 2009-5-13 | lld:pubmed |
| pubmed-article:19262599 | pubmed:abstractText | TET2 (TET oncogene family member 2) is a candidate tumor suppressor gene located at chromosome 4q24, and was recently reported to be mutated in approximately 14% of patients with JAK2V617F-positive myeloproliferative neoplasms. We used high-throughput DNA sequence analysis to screen for TET2 mutations in bone marrow-derived DNA from 48 patients with systemic mastocytosis (SM), including 42 who met the 2008 WHO (World Health Organization) diagnostic criteria for SM and 6 with FIP1L1-PDGFRA. Twelve (29%) SM, but no FIP1L1-PDGFRA patients, had TET2 mutations. A total of 17 mutations (13 frameshift, 2 nonsense and 2 missense) were documented in 2 (15%) of 13 indolent SM patients, 2 (40%) of 5 aggressive SM, and 8 (35%) of 23 SM associated with a clonal non-mast cell-lineage hematopoietic disease (P=0.52). KITD816V was detected by PCR sequencing in 50 or 20% of patients with or without TET2 mutation (P=0.05), respectively. Multivariable analysis showed a significant association between the presence of TET2 mutation and monocytosis (P=0.0003) or female sex (P=0.05). The association with monocytosis was also observed in non-indolent SM (n=29), in which the presence of mutant TET2 did not affect survival (P=0.98). We conclude that TET2 mutations are frequent in SM, segregate with KITD816V and influence phenotype without necessarily altering prognosis. | lld:pubmed |
| pubmed-article:19262599 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19262599 | pubmed:language | eng | lld:pubmed |
| pubmed-article:19262599 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:19262599 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:19262599 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:19262599 | pubmed:month | May | lld:pubmed |
| pubmed-article:19262599 | pubmed:issn | 1476-5551 | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:LevineR LRL | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:GillilandD... | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:PatelJJ | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:CidLL | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:TefferiAA | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:PardananiAA | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:LimK-HKH | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:LashoT LTL | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:FerngS-SSS | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:Abdel-WahabOO | lld:pubmed |
| pubmed-article:19262599 | pubmed:author | pubmed-author:MullallyAA | lld:pubmed |
| pubmed-article:19262599 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:19262599 | pubmed:volume | 23 | lld:pubmed |
| pubmed-article:19262599 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:19262599 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:19262599 | pubmed:pagination | 900-4 | lld:pubmed |
| pubmed-article:19262599 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:19262599 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:19262599 | pubmed:articleTitle | Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. | lld:pubmed |
| pubmed-article:19262599 | pubmed:affiliation | Divisions of Hematology and Hematopathology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA. tefferi.ayalew@mayo.edu | lld:pubmed |
| pubmed-article:19262599 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:19262599 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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