Next-Generation sequencing in a Native American patient with sea-blue histiocytosis: A case report and genomic analysis

This study presents a case of a 25-year-old Native American woman from Otavalo, Ecuador, diagnosed with sea-blue histiocytosis and myelodysplastic syndrome. Bone marrow aspiration revealed sea-blue histiocytes, and next-generation sequencing identified a likely pathogenic stop-gain mutation in the SAMD9 gene, associated with myelodysplastic syndrome. Additionally, variants of uncertain significance were found in the ALB and SRI genes. Ancestral analysis showed a predominantly Native American composition, suggesting a potential genetic predisposition specific to Andean communities. The report underscores the importance of understanding genetic and ancestral backgrounds in diagnosing and managing hematological disorders.