Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Pediatr Blood Cancer. 2018 Oct;65(10):e27296. doi: 10.1002/pbc.27296. Epub 2018 Jun 22.
Beckwith-Wiedemann syndrome (BWS) is a genetic syndrome associated with overgrowth and cancer predisposition, including predisposition to Wilms tumor (WT). Patients with BWS and BWS spectrum are screened from birth to age 7 years for BWS-associated cancers. However, in some cases a BWS-associated cancer may be the first recognized manifestation of the syndrome. We describe 12 patients diagnosed with BWS after presenting with a WT. We discuss the features of BWS in these patients and hypothesize that earlier detection of BWS by attention to its subtler manifestations could lead to earlier detection of children at risk for associated malignancies.
贝克威思-威德曼综合征（BWS）是一种与过度生长和癌症易感性相关的遗传综合征，包括易患肾母细胞瘤（WT）。BWS 患者和 BWS 谱患者从出生到 7 岁接受 BWS 相关癌症的筛查。然而，在某些情况下，BWS 相关癌症可能是该综合征的首次明确表现。我们描述了 12 例以 WT 就诊后诊断为 BWS 的患者。我们讨论了这些患者中 BWS 的特征，并假设通过关注其更微妙的表现更早地发现 BWS，可能会更早地发现有相关恶性肿瘤风险的儿童。
