Alter, B. P. (2007). "Diagnosis, genetics, and management of inherited bone marrow failure syndromes."
Hematology Am Soc Hematol Educ Program 2007: 29-39.
The inherited bone marrow failure syndromes are traditionally considered to be
pediatric disorders, but in fact, many of the patients now are diagnosed as adults,
and many diagnosed as children now live to reach adulthood. The most common
of these rare disorders include Fanconi anemia, dyskeratosis congenita,
Shwachman-Diamond syndrome and amegakaryocytic thrombocytopenia, which
often develop aplastic anemia and may evolve into myelodysplastic syndrome
and acute myeloid leukemia; and Diamond-Blackfan anemia, severe congenital
neutropenia, and thrombocytopenia absent radii, single cytopenias that rarely if
ever become aplastic but have increased risks of leukemia. In addition, the first
three syndromes have high risks of solid tumors: head and neck and anogenital
squamous cell carcinoma in Fanconi anemia and dyskeratosis congenita, and
osteogenic sarcoma in Diamond-Blackfan anemia. Diagnosis of a marrow failure
syndrome requires recognition of characteristic physical abnormalities when
present, and consideration of these disorders in the differential diagnosis of
patients who present with "acquired" aplastic anemia, myelodysplastic syndrome,
acute myeloid leukemia, or atypically early cancers of the types seen in the
syndromes. Ultimate proof will come from identification of pathogenic mutations
in genes associated with each syndrome.