Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice

Hematol Oncol Clin North Am. 2020 Apr;34(2):333-356. doi: 10.1016/j.hoc.2019.10.002. Epub 2020 Jan 6.

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.

Keywords: Diagnostic testing; Germline mutations; Hematopoietic stem cell transplant; Inherited predisposition; Myelodysplastic syndrome; Somatic mutations.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Biomarkers
  • Clonal Evolution / genetics
  • Disease Management
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods
  • Germ-Line Mutation
  • Hematopoiesis / genetics
  • Humans
  • Molecular Diagnostic Techniques
  • Myelodysplastic Syndromes / diagnosis*
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / therapy*

Substances

  • Biomarkers