(ChemotherapyAdvisor) – A study of patients with acute myeloid leukemia (AML) has identified TET2 mutations in 7.6% that did not affect response to therapy or survival, investigators concluded in the Journal of Clinical Oncology online March 19.

Recently, the tet oncogene family member 2 (TET2) gene was identified to be mutated in myeloid disorders, including AML; however, to date, its clinical relevance remains uncertain. “Thus, we explored the frequency, gene expression pattern, and clinical impact of TET2 mutations in a large cohort of patients with AML in the context of other AML-associated aberrations,” Gaidzik et al. noted.

They conducted a comprehensive genetic and clinical analysis of 783 patients ages 18 to 60 years enrolled in the prospective German-Austrian AML Study Group multicenter treatment trial AML HD98A, which was open from January 1998 until December 2004.

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A total of 66 TET2 mutations were found in 60 patients, including missense in 37, frameshift in 16, and nonsense in 13, which, with one exception, were all heterozygous. The TET2 mutations were not associated with a clinical phenotype and were almost mutually exclusive with isocitrate dehydrogenase mutations (IDH) mutations (P<0.001).

These findings support recent data “on a common mechanism of action that might obscure the impact of TET2 mutations if compared against all other patients with AML,” they concluded, adding that the impact of TET2 mutations “will need to be reevaluated in the light of additional gene mutations that influenced epigenetic regulation in AML.”