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Next-Generation sequencing in a Native American patient with sea-blue histiocytosis: A case report and genomic analysis
Journal
Medwave
ISSN
0717-6384
Date Issued
2025-08-08
Author(s)
Mateo Antonio Rodríguez
Francisco Cevallos
Aníbal Gaviria
Abstract
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.
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.