Numerical chromosomal changes and risk of development of myelodysplastic syndrome–acute myeloid leukemia in patients with Fanconi anemia

PA Mehta, RE Harris, SM Davies, MO Kim… - Cancer genetics and …, 2010 - Elsevier
Fanconi Anemia (FA) is an inherited bone marrow failure syndrome characterized by
congenital abnormalities, progressive marrow failure and predisposition to myelodysplastic
syndrome (MDS), acute myeloid leukemia (AML), and solid tumors. The most common
acquired chromosomal aberrations in FA patients are trisomy of 1q and monosomy of
chromosome 7; the latter is known to be associated with poor prognosis. A few reports also
suggest that gains of 3q are associated with progression to MDS–AML and overall poor …