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Updated: Nov 7, 2025
06:39
Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
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Myelodysplastic syndrome with genetic predisposition.
1Department of Pediatrics, Center for Pediatric Cancer, National Cancer Center, Goyang, Korea.
Blood Research
|May 3, 2021
Summary
Genetic predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) is increasingly recognized. This review covers the evaluation and management of these inherited blood cancer syndromes.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder.
- MDS is characterized by ineffective hematopoiesis, cytopenias, and dysplasia.
- MDS carries an increased risk of transformation to acute myeloid leukemia (AML).
Purpose of the Study:
- To review the emerging field of inherited genetic loci contributing to MDS/AML.
- To discuss the clinical recognition of MDS/AML predisposition syndromes.
- To outline practical management strategies for patients with genetic predisposition to MDS.
Main Methods:
- Review of current literature on genetic predisposition in MDS/AML.
- Synthesis of clinical findings related to MDS/AML predisposition syndromes.
- Discussion of management approaches for affected individuals and families.
Main Results:
- Identification of numerous inherited genetic loci associated with MDS/AML development.
- Emergence of clearly defined MDS/AML predisposition syndromes.
- Growing clinical integration of genetic sequencing in diagnosing these syndromes.
Conclusions:
- Understanding genetic predisposition is crucial for evaluating and managing MDS/AML.
- Knowledge of specific syndromes aids in risk stratification and personalized care.
- Management requires a multidisciplinary approach considering genetic counseling and surveillance.
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