Premium
Breast cancer in a case of Shwachman Diamond syndrome
Author(s) -
Singh Sharon A.,
Vlachos Adrianna,
Morgenstern Nora J.,
Ouansafi Ihsane,
Ip Wan,
Rommens Johanna M.,
Durie Peter,
Shimamura Akiko,
Lipton Jeffrey M.
Publication year - 2012
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24052
Subject(s) - medicine , neutropenia , breast cancer , bone marrow failure , cancer , leukemia , exocrine pancreatic insufficiency , blood cancer , bone marrow , oncology , pancreas , stem cell , chemotherapy , genetics , haematopoiesis , biology
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: 945–946. © 2011 Wiley Periodicals, Inc.