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The Role of Genetic Factors in Pediatric Myelodysplastic Syndromes with Different Outcomes by Ying Li; Li Cheng; Yun Peng; Lin Wang; Wenzhi Zhang; Yuhong Yin; Jing Zhang; Xiaoyan Wu is a Medicine article available to read on EtoBox.
What is The Role of Genetic Factors in Pediatric Myelodysplastic Syndromes with Different Outcomes about?
## Background Pediatric myelodysplastic syndromes (MDS) are rare disorders with an unrevealed pathogenesis. Our aim is to explore the role of genetic factors in the pathogenesis of MDS in children with different outcomes and to discover the correlation between genetic features and clinical outcomes as well as disease characteristics. ## Methods We conducted an analysis of archived genetic data from 26 patients diagnosed with pediatric MDS at our institution between 2015 and 2021, examining the association between different genetic characteristics and clinical manifestations as well as prognosis. Additionally, We presented three cases with distinct genetic background and outcomes as examples to elaborate the role of genetic factors in pediatric MDS with different prognoses. ## Results Genetic variations were detected in 13 out of the 26 patients, including 8 patients with co-occurrence of somatic and germline mutations (CSGMs) and 5 patients with somatic mutations alone. Our analysis revealed that advanced MDS (4/8, 50% vs. 1/5, 20% and 4/11, 36.4%), PD (3/8, 37.5% vs. 1/5, 20% and 1/11 9.1%), and TD (6/8, 75% vs. 2/5, 40% and 2/11, 18.2%) were more common in patients with CSGMs tha
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- Author
- Ying Li; Li Cheng; Yun Peng; Lin Wang; Wenzhi Zhang; Yuhong Yin; Jing Zhang; Xiaoyan Wu
- Publisher
- BioMed Central
- Published
- 2024
- Language
- EN
- Field
- Medicine (Health Sciences)