FANCONIS ANEMIA PRESENTING AS ACUTE MYELOID-LEUKEMIA IN ADULTHOOD

We describe a 28-year-old male patient who presented with apparently d e novo acute myeloid leukaemia (AML) who was subsequently found to hav e Fanconi's anaemia (FA), The gene for complementation group A (FAA) h as recently been localized to chromosome 16q24.3 and utilizing genetic markers closely linked to this locus we were able to conclude that th is patient was likely to belong to complementation group A. FA present ing as AML is an exceptionally rare event and all previously described cases have occurred in patients less than 21 years of age, We conclud e that the diagnosis of FA should always be considered in younger pati ents presenting with AML. It is important that the correct diagnosis i s made in these individuals because the administration of conventional chemotherapy may well have devastating consequences for them, Correla tions between the specific mutations causing FA and clinical phenotype s are likely to become apparent as more genetic analyses are performed in this group of patients.