Hereditary myeloid malignancies

Best Pract Res Clin Haematol. 2019 Jun;32(2):163-176. doi: 10.1016/j.beha.2019.05.001. Epub 2019 May 3.


Myelodysplastic syndromes and acute myeloid leukemia are sporadic for the majority of cases affecting the elderly population. Inherited cases, however, do occur. Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased risk of various malignancies including myelodysplasia and acute myeloid leukemia such as Li-Fraumeni syndrome and constitutional mismatch repair deficiency (CMMRD); germline mutations conferring a specific increased risk of myelodysplastic syndrome and acute myeloid leukemia such as mutations in ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes; and finally primarily pediatric inherited bone marrow failure syndromes such as Fanconi anemia, dyskeratosis congenita, severe congenital neutropenia, Shwachman-Diamond syndrome and Diamond Blackfan anemia. The recognition of these germline syndromes is essential in the management and follow-up of patients. Herein, we review the conditions associated with hereditary myeloid leukemia with a special clinical focus on management and monitoring.

Keywords: Acute myeloid leukemia; Bone marrow failure; Familial; Genetic; Germline; Hereditary; Myelodysplastic syndrome; Predisposition.

Publication types

  • Review

MeSH terms

  • Germ-Line Mutation*
  • Hematologic Neoplasms* / diagnosis
  • Hematologic Neoplasms* / genetics
  • Hematologic Neoplasms* / metabolism
  • Hematologic Neoplasms* / therapy
  • Humans
  • Myeloproliferative Disorders* / diagnosis
  • Myeloproliferative Disorders* / genetics
  • Myeloproliferative Disorders* / metabolism
  • Myeloproliferative Disorders* / therapy
  • Neoplasm Proteins* / genetics
  • Neoplasm Proteins* / metabolism
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Neoplastic Syndromes, Hereditary* / genetics
  • Neoplastic Syndromes, Hereditary* / metabolism
  • Neoplastic Syndromes, Hereditary* / therapy


  • Neoplasm Proteins