PuSH - Publication Server of Helmholtz Zentrum München: Whole-exome sequencing in adult ETP-ALL reveals a high rate of <em>DNMT3A</em> mutations.

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Neumann, M.* ; Heesch, S.* ; Schlee, C.* ; Schwartz, S.* ; Gökbuget, N.* ; Hoelzer, D.* ; Konstandin, N.P. ; Ksienzyk, B. ; Vosberg, S. ; Graf, A.* ; Krebs, S.* ; Blum, H.* ; Raff, T.* ; Brüggemann, M.* ; Hofmann, W.-K.* ; Hecht, J.* ; Bohlander, S.K. ; Greif, P.A. ; Baldus, C.D.*

Whole-exome sequencing in adult ETP-ALL reveals a high rate of DNMT3A mutations.

Blood 121, 4749-4752 (2013)

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Early T-cell precursor (ETP) acute lymphoblastic leukemia (ALL) is a high-risk subgroup of T-lineage ALL characterized by specific stem cell and myeloid features. In adult ETP-ALL, no comprehensive studies on the genetic background have been performed to elucidate molecular lesions of this distinct subgroup. We performed whole-exome sequencing of 5 paired ETP-ALL samples. In addition to mutations in genes known to be involved in leukemogenesis (ETV6, NOTCH1, JAK1, and NF1), we identified novel recurrent mutations in FAT1 (25%), FAT3 (20%), DNM2 (35%), and genes associated with epigenetic regulation (MLL2, BMI1, and DNMT3A). Importantly, we verified the high rate of DNMT3A mutations (16%) in a larger cohort of adult patients with ETP-ALL (10/68). Mutations in epigenetic regulators support clinical trials, including epigenetic-orientated therapies, for this high-risk subgroup. Interestingly, more than 60% of adult patients with ETP-ALL harbor at least a single genetic lesion in DNMT3A, FLT3, or NOTCH1 that may allow use of targeted therapies.

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