Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report
| Autor: | Marie-Josée Grégoire, Franck Dugué, Francis Witz, Yigal Dror, Jean-François Lesesve |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
medicine.medical_specialty
Shwachman–Diamond syndrome business.industry Hematology General Medicine Late onset neutropenia Neutropenia medicine.disease Gastroenterology Leukemia hemic and lymphatic diseases Internal medicine Immunology medicine Conventional chemotherapy Myeloid leukaemia Complication business Inherited bone marrow failure syndrome |
| Zdroj: | European Journal of Haematology. 71:393-395 |
| ISSN: | 0902-4441 |
| DOI: | 10.1034/j.1600-0609.2003.00146.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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