TY - JOUR
T1 - Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations
AU - Micol, Jean Baptiste
AU - Duployez, Nicolas
AU - Boissel, Nicolas
AU - Petit, Arnaud
AU - Geffroy, Sandrine
AU - Nibourel, Olivier
AU - Lacombe, Catherine
AU - Lapillonne, Helene
AU - Etancelin, Pascaline
AU - Figeac, Martin
AU - Renneville, Aline
AU - Castaigne, Sylvie
AU - Leverger, Guy
AU - Ifrah, Norbert
AU - Dombret, Hervé
AU - Preudhomme, Claude
AU - Abdel-Wahab, Omar
AU - Jourdan, Eric
PY - 2014/8/28
Y1 - 2014/8/28
N2 - Acute myeloid leukemia (AML) with t(8;21) (q22;q22) is considered to have favorable risk; however, nearly half of t(8;21) patients are not cured, and recent studies have highlighted remarkable genetic heterogeneity in this subset of AML. Here we identify somatic mutations in additional sex combs-like 2 (ASXL2) in 22.7% (25/110) of patientswith t(8; 21), but not in patients with inv(16)/t(16;16) (0/60) or RUNX1-mutated AML (0/26). ASXL2 mutations were similarly frequent in adults and children t(8;21) and were mutually exclusive with ASXL1 mutations. Although overall survival was similar between ASXL1 and ASXL2 mutant t(8;21) AML patients and their wild-type counterparts, patients with ASXL1 or ASXL2 mutations had a cumulative incidence of relapse of 54.6% and 36.0%, respectively, compared with 25% in ASXL1/2 wild-type counterparts (P = .226). These results identify a high-frequency mutation in t(8;21) AML and identify the need for future studies to investigate the clinical and biological relevance of ASXL2 mutations in this unique subset of AML.
AB - Acute myeloid leukemia (AML) with t(8;21) (q22;q22) is considered to have favorable risk; however, nearly half of t(8;21) patients are not cured, and recent studies have highlighted remarkable genetic heterogeneity in this subset of AML. Here we identify somatic mutations in additional sex combs-like 2 (ASXL2) in 22.7% (25/110) of patientswith t(8; 21), but not in patients with inv(16)/t(16;16) (0/60) or RUNX1-mutated AML (0/26). ASXL2 mutations were similarly frequent in adults and children t(8;21) and were mutually exclusive with ASXL1 mutations. Although overall survival was similar between ASXL1 and ASXL2 mutant t(8;21) AML patients and their wild-type counterparts, patients with ASXL1 or ASXL2 mutations had a cumulative incidence of relapse of 54.6% and 36.0%, respectively, compared with 25% in ASXL1/2 wild-type counterparts (P = .226). These results identify a high-frequency mutation in t(8;21) AML and identify the need for future studies to investigate the clinical and biological relevance of ASXL2 mutations in this unique subset of AML.
UR - http://www.scopus.com/inward/record.url?scp=84907344294&partnerID=8YFLogxK
U2 - 10.1182/blood-2014-04-571018
DO - 10.1182/blood-2014-04-571018
M3 - Article
C2 - 24973361
AN - SCOPUS:84907344294
SN - 0006-4971
VL - 124
SP - 1445
EP - 1449
JO - Blood
JF - Blood
IS - 9
ER -