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Published on: October 3, 2018
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Daria V Babushok1, Monica Bessler1
1Comprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
Abstract:
Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by cytopenias, ineffective hematopoiesis, myelodysplasia, and an increased risk of acute myeloid leukemia (AML). While sporadic MDS is primarily a disease of the elderly, MDS in children and young and middle-aged adults is frequently associated with underlying genetic predisposition syndromes. In addition to the classic hereditary bone marrow failure syndromes (BMFS) such as Fanconi Anemia and Dyskeratosis Congenita, in recent years there has been an increased awareness of non-syndromic familial MDS/AML predisposition syndromes such as those caused by mutations in GATA2, RUNX1, CEBPA, and SRP72 genes. Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review clinical scenarios when genetic predisposition should be considered, and will provide a practical overview of the common BMFS and familial MDS/AML syndromes which may be encountered in adult patients with MDS.
Insights
Genetic factors increase the risk of myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) in younger adults. Recognizing these genetic predisposition syndromes is crucial for timely diagnosis and management.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders.
- MDS typically affects the elderly but can occur in younger individuals due to genetic factors.
- Genetic predisposition syndromes are increasingly recognized in familial MDS/AML.
Purpose of the Study:
- To highlight the significance of identifying genetic predisposition in MDS patients.
- To outline clinical situations warranting genetic evaluation for MDS.
- To provide an overview of common hereditary bone marrow failure syndromes and familial MDS/AML syndromes.
Main Methods:
- Literature review of hereditary bone marrow failure syndromes.
- Review of familial MDS/AML predisposition syndromes.
- Analysis of clinical scenarios for genetic predisposition in MDS.
Main Results:
- MDS in younger populations often links to genetic predispositions.
- Key genes implicated include GATA2, RUNX1, CEBPA, and SRP72.
- Classic syndromes like Fanconi Anemia and Dyskeratosis Congenita are relevant.
Conclusions:
- Recognizing genetic predisposition is vital for managing MDS in adults.
- Early genetic evaluation can improve patient outcomes.
- Understanding these syndromes aids in clinical decision-making.
