ZAMBRANO ESPINOSA, ANA KARINAANA KARINAZAMBRANO ESPINOSARUIZ POZO, VIVIANA ALEJANDRAVIVIANA ALEJANDRARUIZ POZOPaz Cruz Elius AndrésMateo Antonio RodríguezCADENA ULLAURI, SANTIAGO ANDRESANTIAGO ANDRECADENA ULLAURITAMAYO TRUJILLO, VICTOR RAFAELVICTOR RAFAELTAMAYO TRUJILLOGUEVARA RAMIREZ, ALEXANDRA PATRICIAALEXANDRA PATRICIAGUEVARA RAMIREZSIMANCAS RACINES, DANIEL ALEJANDRODANIEL ALEJANDROSIMANCAS RACINESFrancisco CevallosAníbal Gaviria2025-11-072025-11-072025-08-08http://doi.org/10.5867/medwave.2025.07.3051This 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.case reportHealthcarehistiocytosisNative American+journal-article