Publikation

Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms.

Wissenschaftlicher Artikel/Review - 08.01.2010

Bereiche
PubMed
DOI
Kontakt

Zitation
Schaub F, Looser R, Li S, Hao-Shen H, Lehmann T, Tichelli A, Skoda R. Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood 2010; 115:2003-7.
Art
Wissenschaftlicher Artikel/Review (Englisch)
Zeitschrift
Blood 2010; 115
Veröffentlichungsdatum
08.01.2010
eISSN (Online)
1528-0020
Seiten
2003-7
Kurzbeschreibung/Zielsetzung

Somatic mutations in TET2 occur in patients with myeloproliferative neoplasms and other hematologic malignancies. It has been suggested that TET2 is a tumor suppressor gene and mutations in TET2 precede the acquisition of JAK2-V617F. To examine the order of events, we performed colony assays and genotyped TET2 and JAK2 in individual colonies. In 4 of 8 myeloproliferative neoplasm patients, we found that some colonies with mutated TET2 carried wild-type JAK2, whereas others were JAK2-V617F positive, indicating that TET2 occurred before JAK2-V617F. One of these patients carried a germline TET2 mutation. However, in 2 other patients, we obtained data compatible with the opposite order of events, with JAK2 exon 12 mutation preceding TET2 mutation in one case. Finally, in 2 of 8 patients, the TET2 and JAK2-V617F mutations defined 2 separate clones. The lack of a strict temporal order of occurrence makes it unlikely that mutations in TET2 represent a predisposing event for acquiring mutations in JAK2.