title: Clonal chromosomal abnormalities in Fanconi's anaemia: what do they really mean?
abstract: Patients with Fanconi's anaemia (FA) have aplastic anaemia, leukaemia, myelodysplasia and tumours. Since leukaemia has a very poor prognosis, it is desirable to identify high-risk patients. To determine the significance of clonal marrow chromosomal abnormalities we began a prospective study in 17 patients: five were normal, eight aplastic, and four myelodysplastic. Three of 11 with adequate cytogenetics had transient abnormal clones. None had leukaemia at 3-24 months. Changing cytogenetic patterns may not be related to leukaemic evolution in patients with a DNA repair defect.
authors.affiliation: Polly Annenberg Levee Hematology Center, Mount Sinai School of Medicine, New York, N.Y.
authors.forename: B P
authors.initials: BP
authors.lastname: Alter
authors.forename: A
authors.initials: A
authors.lastname: Scalise
authors.forename: J
authors.initials: J
authors.lastname: McCombs
authors.forename: V
authors.initials: V
authors.lastname: Najfeld
mesh_terms: D002869:Chromosome Aberrations; D005199:Fanconi Anemia / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D011289:Preleukemia / Q000235:genetics*; D011379:Prognosis; D011446:Prospective Studies