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Different prognostic effects of core-binding factor positive AML with Korean AML registry data
Ho-Jin Shin1, Woo-Sung Min2, Yoo Hong Min3
1Division of Hematology-Oncology, Department of Internal Medicine, School of Medicine, Medical Research Institute, Pusan National University Hospital, Busan, South Korea.
Core-binding factor acute myeloid leukemia (CBF-AML) in Asian patients shows unique genetic features and variable outcomes. Del(7q) is a strong predictor of poor outcomes in t(8;21) CBF-AML, highlighting the need for further research.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Core-binding factor acute myeloid leukemia (CBF-AML) data from Asian populations is scarce.
- This study analyzes a large cohort of Korean CBF-AML patients, comparing genetic features and outcomes with Western data.
- CBF-AML comprises two main subtypes: t(8;21) and inv(16)/t(16;16).
Purpose of the Study:
- To characterize the clinical and genetic landscape of CBF-AML in Korean patients.
- To compare genetic alterations and prognostic factors between Korean and Western CBF-AML cohorts.
- To evaluate the impact of cytogenetics, gene mutations, and treatment strategies on patient outcomes.
Main Methods:
- Analysis of 392 CBF-AML patients (281 with t(8;21), 111 with inv(16)/t(16;16)) from the Korean AML Registry.
- Comparison of genetic data (del(9q), del(7q)) with German CBF-AML cohorts.
- Evaluation of overall survival (OS) and event-free survival (EFS) based on transplantation type (alloSCT vs. ASCT), remission status, and molecular markers (RUNX1/RUNX1T1, c-Kit mutations).
- Multivariate analysis to identify independent prognostic variables for OS in t(8;21) CBF-AML.
Main Results:
- Korean CBF-AML patients showed distinct frequencies of del(9q) in t(8;21) and del(7q) in inv(16) compared to German patients.
- Allogeneic (alloSCT) and autologous stem cell transplantation (ASCT) showed similar OS in first complete remission (CR).
- Poor OS was observed in t(8;21) patients undergoing alloSCT in second/third CR, unlike inv(16) patients.
- A >3-log reduction in RUNX1/RUNX1T1 qPCR correlated with improved 3-year EFS.
- c-Kit D816 mutation in t(8;21) AML indicated inferior EFS and OS, potentially improved by alloSCT.
- Independent prognostic factors for OS in t(8;21) included older age, multiple induction chemotherapy courses, loss of sex chromosome, del(7q), and later CR status before SCT.
- Del(7q) emerged as the most potent predictor of poor outcomes in t(8;21) CBF-AML (HR, 27.23).
Conclusions:
- CBF-AML in Korea exhibits unique genetic profiles compared to Western populations.
- Del(7q) is a critical adverse prognostic factor in t(8;21) CBF-AML, necessitating further investigation.
- Understanding ethnic variations in cytogenetics and mutations is crucial for refining treatment strategies in CBF-AML.
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