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Updated: Aug 23, 2026
Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Distinct clinical and genetic characteristics of myelodysplastic syndrome in younger patients
Hyunkyung Park1, Eun-Ji Choi1, Young-Uk Cho2
1Department of Hematology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Abstract:
Myelodysplastic neoplasms (formerly myelodysplastic syndromes, MDS) are heterogeneous clonal haematological malignancies that primarily affect the elderly, though a notable proportion of patients are diagnosed at younger ages. We retrospectively analysed 1437 patients diagnosed or treated at Asan Medical Center between 1989 and 2022, comparing clinical and genetic characteristics by age group. Younger patients (≤50 years) demonstrated improved overall survival (OS) and leukaemia-free survival (all p < 0.001), a higher proportion of females, lower platelet levels, reduced bone marrow blasts, decreased mutation burden and lower scores on the International Prognostic Scoring System. In contrast, the response rates to hypomethylating agents did not significantly differ between age groups (p = 0.543); however, SF3B1 mutation predicted favourable therapeutic response. Mutations in ASXL1, DDX41, DNMT3A, RUNX1, SF3B1, SRSF2, TET2, TP53 and ZRSR2 occurred more frequently in older MDS patients, whereas SAMD9 mutations predominated in younger cohort. In patients undergoing allogeneic haematopoietic stem cell transplantation (HSCT), OS did not differ significantly between younger and older patients; only TP53 mutation reliably predicted inferior post-HSCT OS (hazard ratio 3.099, p = 0.003). In analyses limited to younger patients, the presence of DNMT3A, TP53 and U2AF1 mutations was associated with worse OS. These findings suggest that younger patients represent a biologically distinct subset of MDS.
Insights
Younger patients with myelodysplastic neoplasms (MDS) have better survival outcomes and distinct genetic profiles compared to older adults. These findings highlight younger MDS patients as a unique biological subgroup requiring further investigation.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Myelodysplastic neoplasms (MDS) are clonal hematological malignancies primarily affecting the elderly.
- A significant subset of MDS patients are diagnosed at younger ages, suggesting potential biological differences.
Purpose of the Study:
- To compare clinical and genetic characteristics of younger (≤50 years) versus older MDS patients.
- To evaluate prognostic factors and treatment responses across different age groups.
Main Methods:
- Retrospective analysis of 1437 MDS patients diagnosed or treated between 1989 and 2022.
- Comparison of clinical data, genetic mutations, and survival outcomes stratified by age.
Main Results:
- Younger MDS patients exhibited improved overall survival and leukemia-free survival, with distinct clinical features and a lower mutation burden.
- Specific mutations (e.g., SAMD9) predominated in younger patients, while others (e.g., ASXL1, TP53) were more common in older patients.
- Allogeneic hematopoietic stem cell transplantation outcomes did not differ by age, but TP53 mutation predicted inferior survival post-transplant.
Conclusions:
- Younger patients with myelodysplastic neoplasms represent a biologically distinct subgroup with a more favorable prognosis.
- Genetic mutations play a critical role in disease progression and outcomes, varying significantly by age.
- Further research into the unique biology of younger MDS is warranted to optimize therapeutic strategies.
