Breast cancer in a case of Shwachman Diamond syndrome

Sharon A. Singh, Adrianna Vlachos, Nora J. Morgenstern, Ihsane Ouansafi, Wan Ip, Johanna M. Rommens, Peter Durie, Akiko Shimamura, Jeffrey M. Lipton

Research output: Contribution to journalArticlepeer-review

Abstract

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 the development of breast cancer in this patient is due to SDS or an isolated case due to unknown factors requires further study.

Original languageEnglish (US)
Pages (from-to)945-946
Number of pages2
JournalPediatric Blood and Cancer
Volume59
Issue number5
DOIs
StatePublished - Nov 2012
Externally publishedYes

Keywords

  • Breast cancer
  • Cancer predisposition
  • Inherited bone marrow failure syndromes
  • Neutropenia
  • Shwachman Diamond syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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