title: Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report.
abstract: We report on a male patient affected by Shwachman Diamond syndrome (SDS) who presented an unusual delayed neutropenia and then developed a poorly differentiated acute myeloid leukaemia (M0-AML) with trilineage myelodysplasia in adulthood. Conventional cytogenetics revealed complex karyotypic changes (monosomies 20, 21, 22, additional 15p). The patient was treated with conventional chemotherapy but never reached complete remission of leukaemia and died 18 months after diagnosis. SDS is an inherited bone marrow failure syndrome with a high propensity to leukaemic transformation. Since neutropenia may be intermittent or with delayed onset, and leukaemic transformation may not occur until adulthood, full blood count should be regularly monitored in such patients.
authors.affiliation: Department of Biological Haematology, University Hospital, Nancy, France. jf.lesesve@chu-nancy.fr
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Lesesve
authors.forename: Franck
authors.initials: F
authors.lastname: Dugué
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Grégoire
authors.forename: Francis
authors.initials: F
authors.lastname: Witz
authors.forename: Yigal
authors.initials: Y
authors.lastname: Dror
mesh_terms: D000208:Acute Disease; D002454:Cell Differentiation; D002648:Child; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications* / Q000235:genetics; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D007951:Leukemia, Myeloid / Q000209:etiology* / Q000473:pathology; D008297:Male; D009503:Neutropenia / Q000209:etiology* / Q000235:genetics; D010198:Pancytopenia / Q000209:etiology; D018805:Sepsis / Q000209:etiology; D013577:Syndrome