Next-Generation sequencing in a Native American patient with sea-blue histiocytosis: A case report and genomic analysis.

IF 0.8 Q2 MEDICINE, GENERAL & INTERNAL

Medwave Pub Date : 2025-08-08 DOI:10.5867/medwave.2025.07.3051

Ana Karina Zambrano, Viviana A Ruiz-Pozo, Elius Paz-Cruz, Mateo Antonio Rodríguez, Santiago Cadena-Ullauri, Rafael Tamayo-Trujillo, Patricia Guevara-Ramírez, Daniel Simancas-Racines, Francisco Cevallos, Aníbal Gaviria

引用次数: 0

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.

查看原文本刊更多论文

新一代测序在美国土著患者海蓝色组织细胞增多症：一个病例报告和基因组分析。

本研究报告了一例来自厄瓜多尔奥塔瓦洛的25岁美洲原住民妇女，被诊断为海蓝色组织细胞增多症和骨髓增生异常综合征。骨髓穿刺显示海蓝色组织细胞，下一代测序鉴定出可能与骨髓增生异常综合征相关的基因致病性停止突变。此外，在两个基因中发现了意义不确定的变异。祖先分析显示，主要是美洲原住民的组成，表明潜在的遗传倾向特定于安第斯社区。该报告强调了解遗传和祖先背景对诊断和管理血液病的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Medwave MEDICINE, GENERAL & INTERNAL-

CiteScore

2.60

自引率

8.30%

发文量

审稿时长

12 weeks

期刊介绍： Medwave is a peer-reviewed, biomedical and public health journal. Since its foundation in 2001 (Volume 1) it has always been an online only, open access publication that does not charge subscription or reader fees. Since January 2011 (Volume 11, Number 1), all articles are peer-reviewed. Without losing sight of the importance of evidence-based approach and methodological soundness, the journal accepts for publication articles that focus on providing updates for clinical practice, review and analysis articles on topics such as ethics, public health and health policy; clinical, social and economic health determinants; clinical and health research findings from all of the major disciplines of medicine, medical science and public health. The journal does not publish basic science manuscripts or experiments conducted on animals. Until March 2013, Medwave was publishing 11-12 numbers a year. Each issue would be posted on the homepage on day 1 of each month, except for Chile’s summer holiday when the issue would cover two months. Starting from April 2013, Medwave adopted the continuous mode of publication, which means that the copyedited accepted articles are posted on the journal’s homepage as they are ready. They are then collated in the respective issue and included in the Past Issues section.