Breast cancer in a case of Shwachman Diamond syndrome.

  title={Breast cancer in a case of Shwachman Diamond syndrome.},
  author={Sharon A Singh and Adrianna Vlachos and Nora J Morgenstern and Ihsane Ouansafi and Wan F Ip and Johanna M Rommens and Peter Durie and Akiko Shimamura and Jeffrey M Lipton},
  journal={Pediatric blood & cancer},
  volume={59 5},
Shwachman Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome (IBMFS) characterized by neutropenia, exocrine pancreatic dysfunction, and cancer predisposition. Patients are at risk for myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) but, unlike other IBMFS, there have been no reported cases of solid tumors. We report a novel case of a solid tumor in a patient with SDS and biallelic mutations in the Shwachman Bodian Diamond Syndrome gene (SBDS). Whether… CONTINUE READING


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Breast cancer predisposition syndromes.

Hematology/oncology clinics of North America • 2010

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