Novel Mutations in Myeloid Malignancies

Myelodysplastic syndromes (MDS), myeloproliferative disorders (MPD), and acute myeloid leukemias (AML) are characterized by a variety of chromosomal deletions and translocations as well as mutations in critical regulatory and signaling-pathway genes. Hypothesizing that a common acquired mutation in a tumor-suppressor gene might underlie these disorders, investigators assessed bone marrow and blood samples from patients with myeloid malignancies.

Deletions or mutations in the TET2 gene were identified in 15 (19%) of 81 MDS patients, 24 (12%) of 198 MPD patients, 5 (24%) of 21 secondary AML patients, and 2 (22%) of 9 chronic myelomonocytic leukemia patients. Of interest, molecular analyses and in vivo xenograft experiments showed that TET2 mut…