Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations Journal Article
| Authors: | Micol, J.; Duployez, N.; Boissel, N.; Petit, A.; Geffroy, S.; Nibourel, O.; Lacombe, C.; Lapillonne, H.; Etancelin, P.; Figeac, M.; Renneville, A.; Castaigne, S.; Leverger, G.; Ifrah, N.; Dombret, H.; Preudhomme, C.; Abdel-Wahab, O.; Jourdan, E. |
| Article Title: | Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations |
| Abstract: | 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. © 2014 by The American Society of Hematology. |
| Keywords: | adult; child; aged; acute granulocytic leukemia; major clinical study; overall survival; somatic mutation; cancer patient; cancer incidence; gene; incidence; relapse; wild type; recurrent disease; chromosome translocation; tumor gene; mutant; genetic heterogeneity; transcription factor runx1; clinical trial (topic); phase 3 clinical trial (topic); human; male; female; priority journal; article; additional sex combs like 2 gene |
| Journal Title: | Blood |
| Volume: | 124 |
| Issue: | 9 |
| ISSN: | 0006-4971 |
| Publisher: | American Society of Hematology |
| Date Published: | 2014-08-28 |
| Start Page: | 1445 |
| End Page: | 1449 |
| Language: | English |
| DOI: | 10.1182/blood-2014-04-571018 |
| PROVIDER: | scopus |
| PMCID: | PMC4148766 |
| PUBMED: | 24973361 |
| DOI/URL: | |
| Notes: | Export Date: 3 November 2014 -- Source: Scopus |
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