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Best Pract Res Clin Haematol. 2015 Mar;28(1):55-68. doi: 10.1016/j.beha.2014.11.004. Epub 2014 Nov 12.

Genetic predisposition syndromes: when should they be considered in the work-up of MDS?

Author information

1
Comprehensive 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. Electronic address: daria.babushok@uphs.upenn.edu.
2
Comprehensive 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. Electronic address: besslerm@email.chop.edu.

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.

KEYWORDS:

CEBPA; Congenital Amegakaryocytic Thrombocytopenia; Diamond-Blackfan Anemia; Dyskeratosis Congenita; Emberger Syndrome; FPD/AML; Fanconi Anemia; GATA2; MDS; MonoMac; RUNX1; SRP72; Severe Congenital Neutropenia; Shwachman-Diamond Syndrome; bone marrow failure syndromes; familial MDS; familial leukemia; genetic predisposition; myelodysplastic syndromes

PMID:
25659730
PMCID:
PMC4323616
DOI:
10.1016/j.beha.2014.11.004
[Indexed for MEDLINE]
Free PMC Article

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