Journal
PEDIATRIC BLOOD & CANCER
Volume 59, Issue 5, Pages 945-946Publisher
WILEY
DOI: 10.1002/pbc.24052
Keywords
breast cancer; cancer predisposition; inherited bone marrow failure syndromes; neutropenia; Shwachman Diamond syndrome
Categories
Funding
- National Institutes of Health
- St. Baldrick's Foundation
- Shwachman Diamond syndrome Foundation International
Ask authors/readers for more resources
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. Pediatr Blood Cancer 2012; 59: 945946. (C) 2011 Wiley Periodicals, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available