Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms

Comprehensive array CGH of normal karyotype myelodysplastic syndromes reveals hidden recurrent and individual genomic copy number alterations with prognostic relevance

“…Two patients had deletions in 4q removing the entire TET2 gene. Although TET2 was identified as the most frequently mutated gene in MDS, [18][19][20] its role in disease remains controversial; two reports describe no impact of TET2 mutations on survival in MDS/MPD (myeloproliferative disease), 18,21 another describes an association with decreased overall survival in AML 13 and, most recently, TET2 mutations were reported to be an independent favorable prognostic factor in MDS. 22 Two patients had submicroscopic deletions in 5q; one was only 1.35 Mb in 5q31.2, affecting the more proximal AML/MDS region.…”

TET2 mutations in childhood leukemia

“…Mutations and deletions were detected in myelodysplastic syndromes, acute myeloid leukemias (AML) and other myeloid malignancies. [1][2][3][4][5] So far, however, the presence of TET2 mutations has not been reported in childhood leukemia.…”

Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis

“…Interestingly, the deleted region contained TET2, a gene recently found to be altered in many subtypes of myeloid malignancies 5-9 including 2 patients with RARS-T, of whom one showed a TET2 missense and the other a frameshift mutation. 10 To further clarify the 4q24 deletion detected by SNP arrays, we performed fluorescence in situ hybridization (FISH). Twenty out of 100 analyzed interphase nuclei and three metaphases showed only one signal for the probe spanning the TET2 gene in one patient ( Figure 1B).…”