Shwachman–Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report
Eur J Haematol 2003: 71: 393–395. © Blackwell Munksgaard 2003. 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.
Document Type: Research Article
Affiliations: 1: Biological 2: Clinical Haematology 3: Genetics, University Hospital, Nancy, France 4: Division of Hematology/Oncology and Bone Marrow Transplantation, Hospital for Sick Children, Toronto, Canada
Publication date: November 1, 2003