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 gene, associated with myelodysplastic syndrome. Additionally, variants of uncertain significance were found in the and 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.