RUNX1Mutations in Acute Myeloid Leukemia (AML): Correlation with Distinct Cytogenetic Subgroups and Clinical Outcome. Results of the AML Study Group (AMLSG)

Autor: Gaidzik, Verena I., Schlenk, Richard F., Wittke, Kerstin, Becker, Annegret, Zimmermann, Andreas, Schlegelberger, Brigitte, Ganser, Arnold, Spaeth, Daniela, Doehner, Hartmut, Doehner, Konstanze
Zdroj: Blood; November 2008, Vol. 112 Issue: 11 p145-145, 1p
Abstrakt: Background: The runt-related transcription factor 1 (RUNX1) gene encodes a transcription factor that is required for hematopoietic stem cell emergence during development and that functions as a key regulator of hematopoiesis at several steps. Mutations in RUNX1have been identified in sporadic myeloid leukemia through translocations [e.g., RUNX1-RUNX1T1in t(8;21) or RUNX1-EVI1in t(3;21)], point mutations or amplifications. In addition, germline mutations in RUNX1result in familial platelet disorder with propensity for the development of myeloid leukemia. More recent data suggest that RUNX1mutations are not strongly associated with MDS, secondary AML (s-AML) or therapy-related AML (t-AML) but seem to be more related to distinct cytogenetic subgroups such as trisomy 13, trisomy 21, loss of 7q, and trisomy 8.
Databáze: Supplemental Index