Genetic predisposition syndromes: When should they be considered in the work-up of MDS?. Issue 1 (March 2015)

• Record Type: Journal Article
• Authors: Babushok, Daria V.; Bessler, Monica
• Is Part Of: Baillière's best practice and research in clinical haematology. Volume 28:Issue 1(2015)
• Page Start: 55
• Page End: 68
• Publication Date: 2015-03
• Subjects: Hematology -- Periodicals; Blood -- Periodicals; Hematologic Diseases -- Periodicals; Electronic journals; 616
• DOI: 10.1016/j.beha.2014.11.004
• Languages: English
• ISSNs: 1521-6926

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <p id="abspara0010">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 <italic>GATA2</italic>, <italic>RUNX1</italic>, <italic>CEBPA</italic>, and <italic>SRP72</italic> 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.</p> </sec> </abstract>