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Published on: September 20, 2016
Mutational Landscape and Clinical Outcomes in AML With Sole Trisomy 8
Ehsan Bahrami Hezaveh1,2, Mark Anthony Turingan1,2, Qianghua Zhou1,2
1Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Acute myeloid leukemia with sole chromosome 8 gain (sole +8 AML) is rare. High rates of myelodysplasia-related gene mutations in sole +8 AML patients correlate with inferior survival, highlighting their prognostic significance.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Acute myeloid leukemia (AML) with sole chromosome 8 gain (sole +8) is an uncommon cytogenetic abnormality.
- The prognostic implications and specific mutation profiles of sole +8 AML are not well-defined.
Purpose of the Study:
- To investigate the mutation landscape and clinical outcomes of patients with sole +8 AML.
- To determine the prognostic impact of myelodysplasia-related (MR) gene mutations in this AML subtype.
Main Methods:
- Retrospective analysis of 75 patients diagnosed with sole +8 AML.
- Comprehensive mutational profiling including genes like ASXL1, RUNX1, SRSF2, TET2, and others.
- Survival analysis comparing sole +8 AML patients to European LeukemiaNet (ELN) risk groups.
Main Results:
- Frequent mutations observed in ASXL1 (47%), RUNX1 (32%), SRSF2 (32%), TET2 (27%), and others.
- Older patients showed higher frequencies of ASXL1, SRSF2, and TET2 mutations.
- A high prevalence of myelodysplasia-related (MR) gene mutations (74.2%) was found in sole +8 AML.
- Sole +8 AML patients exhibited inferior overall survival compared to ELN 2022 intermediate-risk patients and similar survival to ELN adverse-risk patients.
Conclusions:
- The high frequency of MR gene mutations in sole +8 AML may explain the observed inferior survival.
- Genetic mutations, particularly MR genes, are critical determinants of prognosis in sole +8 AML.
- These findings underscore the importance of comprehensive genetic profiling for risk stratification in sole +8 AML.
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