Introduction: Genetic syndromes predisposing to myeloid neoplasia

Inherited forms of myelodysplastic syndrome (MDS) and myeloid or lymphoid leukemia have long been associated with several constitutional disorders in children. The first report on an inherited bone marrow failure syndrome (IBMFS) with high risk for the development of myeloid neoplasia (MN) dates back to exactly 90 years ago when the Swiss pediatrician Guido Fanconi described a series of patients with physical anomalies and pernicious anemia. Since then a number of additional IBMFS and inherited conditions with leukemia predisposition such as Down syndrome, Ras-pathway disorders or Li-Fraumeni syndrome and other hereditary cancer predisposition syndromes were discovered.

Source: Seminars in Hematology - May 4, 2017 Category: Hematology Authors: Marcin Wlodarski, Charlotte Niemeyer Source Type: research