Transformation of Fanconi's anemia to acute nonlymphocytic leukemia associated with emergence of monosomy 7.
Two sisters in whom a diagnosis of Fanconi's anemia was made at ages 12 and 18 subsequently developed acute nonlymphocytic leukemia (ANLL). A third sibling had previously died at age 11 of apparent sepsis. Both sisters had cytogenetic studies that showed increased chromosomal breakage and a 46,XX karyotype, but subsequently developed ANLL after, or coincident with, the emergence of monosomy 7. These observations suggest that, in addition to myelodysplastic syndromes and defective neutrophil chemotaxis, monosomy 7 may be associated with the emergence of leukemia in this disorder.
D000208:Acute Disease; D000293:Adolescent; D000741:Anemia, Aplastic / Q000150:complications*; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005199:Fanconi Anemia / Q000150:complications*; D005260:Female; D006801:Humans; D007621:Karyotyping; D007938:Leukemia / Q000209:etiology* / Q000235:genetics