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Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice
Kristen E Schratz1, Amy E DeZern2
1Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Bloomberg 11379, 1800 Orleans Street, Baltimore, MD 21287, USA; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, 1650 Orleans Street, Baltimore, MD 21287, USA.
Abstract:
Myelodysplastic syndromes (MDSs) are a heterogeneous group of marrow failure disorders that primarily affect older persons but also occur at a lower frequency in children and young adults. There is increasing recognition of an inherited predisposition to MDS as well as other myeloid malignancies for patients of all ages. Germline predisposition to MDS can occur as part of a syndrome or sporadic disease. The timely diagnosis of an underlying genetic predisposition in the setting of MDS is important. This article delineates germline genetic causes of MDS and provides a scaffold for the diagnosis and management of patients in this context.
Insights
Inherited factors can cause myelodysplastic syndromes (MDS), a bone marrow failure disorder, in all age groups. Early diagnosis of genetic predisposition is crucial for managing MDS patients.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Myelodysplastic syndromes (MDS) are marrow failure disorders primarily affecting older adults, but also seen in pediatric and young adult populations.
- There is growing awareness of inherited predispositions to MDS and other myeloid malignancies across all age groups.
- Germline genetic causes of MDS can manifest as part of a known syndrome or as a sporadic condition.
Purpose of the Study:
- To delineate the germline genetic causes of myelodysplastic syndromes.
- To provide a diagnostic and management framework for patients with inherited MDS.
- To emphasize the importance of identifying genetic predispositions in MDS.
Main Methods:
- Review of existing literature on germline genetics and MDS.
- Analysis of reported cases of inherited MDS.
- Synthesis of diagnostic criteria and management strategies for germline MDS.
Main Results:
- Identified specific germline mutations and genetic syndromes associated with MDS.
- Highlighted the variability in presentation and inheritance patterns.
- Emphasized the role of genetic testing in diagnosis.
Conclusions:
- Germline genetic predisposition is an important factor in MDS etiology across all ages.
- Timely diagnosis of inherited MDS is critical for appropriate patient management.
- Further research into genetic causes and targeted therapies for MDS is warranted.
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