What is familial myelodysplastic syndrome (MDS)?

Updated: Jul 24, 2018
  • Author: Emmanuel C Besa, MD; Chief Editor: Koyamangalath Krishnan, MD, FRCP, FACP  more...
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Answer

Although familial cases of myelodysplastic syndromes are rare, they are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general. The best-characterized familial MDS is familial platelet disorder with propensity to myeloid malignancy, which is caused by heterozygous germline RUNX1 mutations. The incidence of MDS/AML in affected pedigrees is over 40%, with a median age of onset of 33 years. Familial monosomy 7; unusually short telomeres in dyskeratosis congenita; and four pedigrees with inherited MDS caused by heterozygous mutations in GATA2 have been reported. [5] These familial forms may occasionally be found in the course of screening family members of a patient with MDS as bone marrow transplant donors.


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