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BioMed Research International
Volume 2013, Article ID 929840, 5 pages
Clinical Study

TET2 Mutations in Ph-Negative Myeloproliferative Neoplasms: Identification of Three Novel Mutations and Relationship with Clinical and Laboratory Findings

1Bleeding and Thrombotic Disorders Unit, Department of Hematology, Ospedale Civile dello “Spirito Santo”, 65124 Pescara, Italy
2Atherosclerosis and Thrombosis Unit, IRCCS “Casa Sollievo della Sofferenza”, 71013 San Giovanni Rotondo, Italy
3Laboratory of Molecular Biology, Department of Hematology, Ospedale Civile dello “Spirito Santo”, 65124 Pescara, Italy
4Department of Medical Genetics, Foggia University, 71100 Foggia, Italy

Received 2 April 2013; Accepted 9 May 2013

Academic Editor: Luca Arcaini

Copyright © 2013 Andrea Patriarca et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 ( ) 2 mutations were identified (8%), and in those with essential thrombocythemia ( ) 2 mutations (3.6%); in those with unclassifiable MPN ( ) 3 mutations (37.5%). No primary myelofibrosis patients ( ) 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 ( ; 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.