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Ref Type Journal Article
PMID (25111512)
Authors Yoon JH, Kim HJ, Kim JW, Jeon YW, Shin SH, Lee SE, Cho BS, Eom KS, Kim YJ, Lee S, Min CK, Cho SG, Lee JW, Min WS, Park CW
Title Identification of molecular and cytogenetic risk factors for unfavorable core-binding factor-positive adult AML with post-remission treatment outcome analysis including transplantation.
Journal Bone marrow transplantation
Vol 49
Issue 12
Date 2014 Dec
Abstract Text Emerging molecular studies have identified a subgroup of patients with unfavorable core-binding factor-positive (CBF)-AML who should be treated by intensified post-remission treatments. We analyzed 264 adults with CBF-AML from 2002 to 2011, and focused on 206 patients who achieved CR after standard '3+7' induction chemotherapy. Patients who achieved CR with an available donor were treated with allogeneic hematopoietic SCT (allo-HSCT, n=115) and the rest were treated with autologous (auto) HSCT (n=72) or chemotherapy alone (n=19). OS was not significantly different between CBFβ/MYH11 (n=62) and RUNX1/RUNX1T1 (n=144), and auto-HSCT showed favorable OS compared with allo-HSCT or chemotherapy alone. Cytogenetic analysis identified that inv(16) without trisomy had a favorable OS and t(8;21) with additional chromosomes had an unfavorable OS, but multivariate analysis revealed those were NS. Patients with c-kit mutation showed inferior OS. For transplanted patients, residual post-transplant CBF-minimal residual disease quantitative PCR with higher WT1 expression at D+60 showed the worst OS with a higher incidence of relapse. Conclusively, we found that unfavorable CBF-AML can be defined with risk stratification using cytogenetic and molecular studies, and a careful risk-adapted treatment approach using frontline transplantation with novel therapies should be evaluated for this particular risk subgroup.


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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RUNX1 - RUNX1T1 acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, the t(8;21) cytogenetic abnormality, which leads to the RUNX1-RUNX1T1 fusion, is associated with core-binding factor acute myeloid leukemia and favorable prognosis (PMID: 22180162, PMID: 9746770, PMID: 25111512). 9746770 25111512 22180162
RUNX1 - RUNX1T1 KIT mut acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, coincident KIT mutations were associated with higher relapse rate and decreased overall survival in acute myeloid leukemia patients with RUNX1-RUNX1T1 fusions (PMID: 18648004, PMID: 16384925, PMID: 25111512). 25111512 16384925 18648004