Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working Party

Simone Cesaro,Jean Donadieu,Marco Cipolli,Jean Hugues Dalle,Jan Styczynski,Riccardo Masetti,Brigitte Strahm,Margherita Mauro,Amal Alseraihy,Mahmoud Aljurf,Carlo Dufour,Regis Peffault de la Tour

Transplantation and Cellular Therapy（2022）

Cited 5|Views8

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Abstract

•The haematological complications are the main cause of death in Shwachman disease.•Haematopoietic cell transplant is a feasible option for Shwachman patients.•Best results are obtained in patients transplanted for bone marrow failure.•A poor outcome is associated with the development of overt leukaemia.•Early detection of clonal malignant evolution is the key for a timely transplantation.

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Key words

Shwachman-Diamond syndrome,bone marrow failure,myelodisplastic syndrome,acute myeloid leukemia,stem cell transplantation

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