Next-Generation sequencing in a Native American patient with sea-blue histiocytosis: A case report and genomic analysis
Year: 2025
Type: article
Study design: Case Report
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 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.
Source: Medwave
Institution: Universidad UTE
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $600
OpenAlex ID: W4413054375