Analysis of African American Patients Diagnosed with Acute Promyelocytic Leukemia Unveils Comparable Survival and Unique Genomic Characteristics
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Date
2024-05
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The Ohio State University
Abstract
Among the various hematological malignancies Acute Promyelocytic Leukemia (APL) represents a distinct subtype of acute myeloid leukemia (AML), characterized by the PML/RARa fusion protein resulting from the translocation t(15;17).1 Despite advancements, there remains a gap in knowledge or in other words a comprehensive understanding of the molecular landscape of APL across diverse racial backgrounds. This study sought to investigate this gap by analyzing survival outcomes and genomic profiles of APL patients, particularly those of African descent.
Using nationwide registries and clinical trial databases, survival analyses revealed no racial disparities in overall survival (OS) but highlighted age and social deprivation as significant prognosticators to OS. Molecular profiling of African American patients characterized the molecular landscape and uncovered both known and novel mutations including FLT3, CALR, and NLGN2, suggesting potential ancestry-related differences in driver mutations. Furthermore, analysis of gene fusions revealed variations in isoforms, indicating possible ancestry-associated differences in disease biology.
These findings underscore the importance of inclusive genomic studies for a more complete understanding of molecular features and associated disease biology and highlight the value of comprehensively understanding the disease landscape, particularly in patient populations traditionally underrepresented. Moreover, it depicts, on a population-based level, just how impactful access to care is for patient survival and outcomes.
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Keywords
Disparities, Cancer, Leukemia, Survival Analysis, Biology, Genetics