Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes

Leuk Lymphoma. 2013 Jan;54(1):28-35. doi: 10.3109/10428194.2012.701738. Epub 2012 Jul 9.


As with most genetic cancer predisposition syndromes, inherited susceptibility to myelodysplastic syndrome (MDS) and acute leukemia (AL) is likely to be more common than previously appreciated. As next-generation sequencing technologies become integrated into clinical practice, we anticipate that the number of cases of familial MDS/AL identified will increase. Although the existence of syndromes predisposing to MDS/AL has been known for some time, clinical guidelines for the screening and management of suspected or confirmed cases do not exist. Based on our collective experience caring for families with these syndromes, we propose recommendations for genetic counseling, testing, and clinical management. We welcome discussion about these proposals and hope that they will catalyze an ongoing dialog leading to optimal medical and psychosocial care for these patients.

Publication types

  • Review

MeSH terms

  • Disease Susceptibility
  • Family
  • Genetic Counseling
  • Genetic Testing
  • Humans
  • Leukemia / diagnosis
  • Leukemia / genetics
  • Myelodysplastic Syndromes / diagnosis*
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / therapy*
  • Practice Guidelines as Topic