Clonal chromosomal abnormalities in Fanconi's anaemia: what do they really mean?

Abstract
Summary. 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.