What are the characteristics of Fanconi anemia?

Updated: Jan 29, 2021
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Fanconi anemia is characterized by the following:

  • Multiple congenital anomalies (60-75%): Short stature, abnormal skin pigmentation, malformations of the thumbs with or without dysplastic or absent radii, as well as microphthalmos and malformations of the heart, kidneys, intestines, and ears

  • Bone marrow failure: Thrombocytopenia, leukopenia, or aplastic anemia; most patients with Fanconi anemia have bone marrow failure by adulthood

  • Cancer: Hematologic malignancies are common with Fanconi anemia and myelodysplasia, with acute myeloid leukemia (AML) being the most common; solid tumors such as those in squamous cell head and neck cancer, female genital tumors, and liver tumors are also seen; Fanconi anemia is associated with increased chromosomal breakage and abnormal sister chromatid exchange in the presence of agents such as diepoxybutane or mitomycin C

  • Predominantly autosomal recessive inheritance pattern: Fifteen genes are now known to be causative for Fanconi anemia; only 1 of these— FANCB (X-linked recessive)—is not inherited in an autosomal recessive manner

  • Association between bone marrow progression and a complex pattern of recurrent chromosomal abnormalities: Some chromosomal abnormalities are commonly found in non–Fanconi anemia myelodysplastic syndrome (MDS) and secondary AML (eg, -7/7q or RUNX1 abnormalities), whereas others are specific for Fanconi anemia (eg, 1q+ and 3q+)


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