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2014 ; 27
(3-4
): 214-21
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Fanconi anemia and the development of leukemia
#MMPMID25455269
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Best Pract Res Clin Haematol
2014[Sep]; 27
(3-4
): 214-21
PMID25455269
show ga
Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone
marrow failure syndrome, due to mutations in 16 genes, whose protein products
collaborate in a DNA repair pathway. The major complications are aplastic anemia,
acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid
tumors. A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative
incidence of cancer of 97% by age 7 years; the cancers are AML, brain tumors, and
Wilms tumor; several patients have multiple events. Patients with the other
genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of marrow
failure, 20% of AML, and 30% of solid tumors (usually head and neck or
gynecologic squamous cell carcinoma), by age 40, and they too are at risk of
multiple adverse events. Hematopoietic stem cell transplant may cure AML and MDS,
and preemptive transplant may be appropriate, but its use is a complicated
decision.
|*Fanconi Anemia Complementation Group Proteins/genetics/metabolism
[MESH]