[Hereditary diseases with propensity to myeloid malignancy].
Hematological malignancy is known to be associated with Down syndrome (DS), neurofibromatosis type 1 (NF1) and congenital bone marrow failure syndromes (CBMFS). Although many responsible germ-cell mutations have been identified, the secondary mutations that are responsible for the development of myelodysplastic syndrome and acute myelogenous leukemia (MDS/AML) have not been determined. Additional chromosomal abnormalities such as monosomy 7 and trisomy 21 are often observed in the progression to MDS/AML, and the critical genes for monosomy 7 have recently been reported. In this review, we briefly present recent findings regarding DS, NF1 and CBMFS with a tendency for malignant transformation; Fanconi anemia, familial platelet disorder with propensity to myeloid malignancy and congenital severe neutropenia.
Yagasaki
Hiroshi
H
Department of Pediatrics, Nihon University School of Medicine.
Mugishima
Hideo
H
D001791:Blood Platelet Disorders / Q000150:complications / Q000235:genetics*; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics*; D005854:Germ Cells; D006801:Humans; D007951:Leukemia, Myeloid / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics*; D009503:Neutropenia / Q000150:complications / Q000151:congenital / Q000235:genetics*