Practical considerations for diagnosis and management of patients and carriers

Semin Hematol. 2017 Apr;54(2):69-74. doi: 10.1053/j.seminhematol.2017.04.002. Epub 2017 Apr 6.


Newly diagnosed children and adults with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) need to be screened for presence of a genetic predisposition syndrome because the information on the genetic status is likely to influence clinical care and management of the patient and the family. Scenarios in which genetic counseling is advised include presence of a mutation on somatic screen that can be associated with a germline predisposition, hematologic or cytogenetic characteristics suggestive of an underlying susceptibility syndrome, non-hematological phenotype suspicious for a familial condition, history of previous malignancy, or a family history of cancer, cytopenia, autoimmunity, or organ-system manifestation fitting a predisposition syndrome. With increasing complexity on phenotypes, genetics, and leukemia risk of the recently recognized predisposition syndromes, specialized clinics for hereditary hematologic malignancies have been initiated to guide genetic testing and support hematologists integrating genetic data into therapeutic strategies and clinical care. Recommendations for surveillance of carriers are currently based on expert opinion and subject to future modification when a more complete picture for the distinct genetic entities will arise.

Keywords: Genetic counseling; Genetic testing; Screening for predisposition syndromes; Specialized clinic for hereditary hematologic malignancies; Surveillance and prevention.

Publication types

  • Review

MeSH terms

  • Genetic Counseling / methods*
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Hematologic Neoplasms / diagnosis*
  • Hematologic Neoplasms / genetics
  • Hematologic Neoplasms / therapy*
  • Humans
  • Mass Screening
  • Myelodysplastic Syndromes / diagnosis*
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / therapy*