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Shwachman–Diamond syndrome with late‐onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report
Author(s) -
Lesesve JeanFrançois,
Dugué Franck,
Grégoire MarieJosée,
Witz Francis,
Dror Yigal
Publication year - 2003
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1034/j.1600-0609.2003.00146.x
Subject(s) - neutropenia , medicine , myeloid leukaemia , bone marrow , chemotherapy , myeloid , congenital neutropenia , leukemia , gastroenterology
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.