title: Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome.
abstract: Three male patients (two of whom were brothers) with Shwachman-Diamond (SDS) syndrome presented with acute myeloid leukaemia in adulthood. In all three cases there was trilineage myelodysplasia and the morphology was consistent with FAB subtype M6. SDS is an inherited bone marrow failure syndrome with a high propensity to leukaemic transformation. Since this may not occur until adulthood, SDS should be considered in the differential diagnosis of adults presenting with acute myeloid leukaemia, particularly where features of myelodysplasia are prominent.
authors.affiliation: Department of Haematology, Royal Postgraduate Medical School and Hammersmith Hospital, London.
authors.forename: I
authors.initials: I
authors.lastname: Dokal
authors.forename: S
authors.initials: S
authors.lastname: Rule
authors.forename: F
authors.initials: F
authors.lastname: Chen
authors.forename: M
authors.initials: M
authors.lastname: Potter
authors.forename: J
authors.initials: J
authors.lastname: Goldman
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications* / Q000235:genetics; D005183:Failure to Thrive / Q000150:complications; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D004915:Leukemia, Erythroblastic, Acute / Q000150:complications* / Q000235:genetics; D008297:Male; D009190:Myelodysplastic Syndromes / Q000150:complications; D013577:Syndrome