Division of Hematology/Oncology and Stem Cell Transplantation, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, New York 11040, USA.
Pediatr Blood Cancer. 2012 Nov;59(5):945-6. doi: 10.1002/pbc.24052. Epub 2011 Dec 27.
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.
Shwachman-Diamond 综合征（SDS）是一种罕见的遗传性骨髓衰竭综合征（IBMFS），其特征为中性粒细胞减少、外分泌胰腺功能障碍和易患癌症。患者存在骨髓增生异常综合征（MDS）和急性髓系白血病（AML）的风险，但与其他 IBMFS 不同，尚无实体瘤的报道。我们报告了一例 SDS 患者的实体瘤病例，该患者存在 Shwachman-Bodian-Diamond 综合征基因（SBDS）的双等位基因突变。该患者乳腺癌的发生是由于 SDS 还是由于未知因素导致的孤立病例，需要进一步研究。
