Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia

Hematol Oncol Clin North Am. 2018 Aug;32(4):657-668. doi: 10.1016/j.hoc.2018.04.002.


Fanconi anemia (FA) is a DNA repair disorder associated with a high risk of cancer and bone marrow failure. Patients with FA may present with certain dysmorphic features, such as radial ray abnormalities, short stature, typical facies, bone marrow failure, or certain solid malignancies. Some patients may be recognized due to exquisite sensitivity after exposure to cancer therapy. FA is diagnosed by increased chromosomal breakage after exposure to clastogenic agents. It follows autosomal recessive and X-linked inheritance depending on the underlying genomic alterations. Recognizing patients with FA is important for therapeutic decisions, genetic counseling, and optimal clinical management.

Keywords: BRCA1/2; Bone marrow failure; DNA repair; Exquisite therapeutic sensitivity; Fanconi anemia; Fanconi complex; Leukemia; Myelodysplastic syndrome.

Publication types

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

MeSH terms

  • DNA Damage*
  • Fanconi Anemia* / genetics
  • Fanconi Anemia* / immunology
  • Fanconi Anemia* / pathology
  • Fanconi Anemia* / therapy
  • Female
  • Genetic Counseling*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Leukemia, Myeloid, Acute* / genetics
  • Leukemia, Myeloid, Acute* / immunology
  • Leukemia, Myeloid, Acute* / pathology
  • Leukemia, Myeloid, Acute* / therapy
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / immunology
  • Myelodysplastic Syndromes* / pathology
  • Myelodysplastic Syndromes* / therapy