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Updated: Sep 12, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Next-Generation sequencing in a Native American patient with sea-blue histiocytosis: A case report and genomic
Ana Karina Zambrano1, Viviana A Ruiz-Pozo1, Elius Paz-Cruz1
1Universidad UTE, Facultad de Ciencias de la Salud Eugenio Espejo, Centro de Investigación Genética y Genómica, Quito, Ecuador.
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.

