FISHing for TET2: Utility of FISH for TET2 deletions detection in clinical samples

摘要

TET2 is an Fe(II)- and alpha-ketoglutarate dependent enzyme known to be affected by loss-of-function mutations in myeloid malignancies [1 ]. Recently all TET family members including TET2 were shown to catalyze the conversion of 5-methylcytosine to 5-hydroxymethylcytosine, 5-formylcytosine, or 5-carboxylcytosine [2,3]. It is currently believed that these enzymatic modifications of methylcytosines are an important step in the active demethylation of DNA [4]. Biologically, it has very recently been demonstrated that in vivo loss of TET2 is associated with a progressive enlargement of the hematopoietic stem cell compartment and eventual myelo-proliferation in vivo. Furthermore, TET2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation in mice [5,6].