In:
BioMed Research International, Hindawi Limited, Vol. 2013 ( 2013), p. 1-5
Abstract:
High-throughput DNA sequence analysis was used to screen for TET2 mutations in peripheral blood derived DNA from 97 patients with BCR-ABL-negative myeloproliferative neoplasms (MPNs). Overall six mutations in the coding region of the gene were identified in 7 patients with an overall mutational frequency of 7.2%. In polycythemia vera patients ( n = 25 ) 2 mutations were identified (8%), and in those with essential thrombocythemia ( n = 55 ) 2 mutations (3.6%); in those with unclassifiable MPN ( n = 8 ) 3 mutations (37.5%). No primary myelofibrosis patients ( n = 6 ) harboured TET2 mutations. Three unreported mutations were identified (p.P177fs, p.C1298del, and p.P411del), the first two in patients with unclassifiable MPN, the last in a patient with essential thrombocythemia. On multivariate analysis the diagnosis of an unclassifiable MPN was significantly related to the presence of TET2 mutations ( P = 0.02 ; OR: 2.81; 95% CI 1.11–7.06). We conclude that TET2 mutations occur in both JAK2 V617F-positive and -negative MPNs and are more frequent in MPN-U patients. This could represent the biological link between the different classes of myeloid malignancies.
Type of Medium:
Online Resource
ISSN:
2314-6133
,
2314-6141
Language:
English
Publisher:
Hindawi Limited
Publication Date:
2013
detail.hit.zdb_id:
2698540-8
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