Mutation inTET2in Myeloid Cancers

Abstract

Somatic mutations in TET2 occur in about 15% of patients with various myeloid cancers.

DNMT3A mutations in myeloproliferative neoplasms

“…[1][2][3][4] For instance, use of array-based techniques such as comparative genomic hybridization and single-nucleotide polymorphism (SNP) analysis led to the identification of genes involved in epigenetic regulation such as tet-oncogene family member 2 (TET2), additional sex combs like 1 (ASXL1) and enhancer of zeste 2 (EZH2). [5][6][7] Inactivating mutations in TET2, ASXL1 and EZH2 are considered to promote myeloid tumorigenesis because of epigenetic modulation of target genes. More recently, a whole-genome sequencing study in acute myeloid leukemia (AML) uncovered recurrent mutations in 22% of AML patients in another epigenetic regulator, the DNA methyltransferase 3A gene DNMT3A.…”

Targeted next generation sequencing of clinically significant gene mutations and translocations in leukemia

“…For example, mutations in many genes recently implicated in leukemia prognosis, such as CEBPA and DMNT3A occur throughout the coding region, and require sequencing of multiple PCR products and/or exons for full evaluation. 5,37 Although cumbersome by Sanger sequencing, obtaining sequence data over large coding areas and across multiple exons is fairly simple using target capture, requiring only the in silico design of sequence-specific capture probes and minimal optimization for most genes (depending on GC content as described earlier). It is also straightforward to add additional genes to a capture panel to accommodate new prognostic and diagnostic markers.…”

Role of autophagy in the progression and suppression of leukemias

“…These chromosomal aberrations were observed in nearly 30 percent of AML cases [18,19]. In addition to these major structural aberrations, numerous somatic mutations were found to be associated with AML including mutations in the NPM1, KRAS2, CEBPA, ETV6, JAK2, and TET2 genes [20][21][22][23][24][25][26].…”