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病例报告:首例患有迪亚斯-洛根综合征(-相关智力障碍)的个体发生肾母细胞瘤的报告。

Case Report: First report of a Wilms tumor in an individual with Dias-Logan syndrome (-related intellectual disability).

作者信息

Troullioud Lucas Alexandre G, Fiala Elise, Razeq Ahmed, Sauerhaft Talia, Price Anita P, Mosquera Juan Miguel, Miyauchi Jeremy, Gao Ming, Walsh Michael F, Ortiz Michael V

机构信息

Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, United States.

Baylor College of Medicine, Children's Hospital of San Antonio, San Antonio, TX, United States.

出版信息

Front Oncol. 2025 Jul 23;15:1585492. doi: 10.3389/fonc.2025.1585492. eCollection 2025.

Abstract

Dias-Logan syndrome (DLS) is a rare condition caused by heterozygous germline pathogenic variants associated with global developmental delay, distinctive facial features, and asymptomatic persistence of fetal hemoglobin. There has been no evidence of an association between DLS and increased risk of cancer. We report the first instance of a child with DLS diagnosed with cancer, a Wilms tumor (WT), who is notably much older than the typical onset. Although this case alone is insufficient to warrant routine WT screening in DLS, given the extreme rarity, we cannot rule out an association with DLS and WT predisposition.

摘要

迪亚斯-洛根综合征(DLS)是一种罕见疾病,由杂合性种系致病性变异引起,与全球发育迟缓、独特面部特征以及胎儿血红蛋白的无症状持续存在有关。目前尚无证据表明DLS与癌症风险增加之间存在关联。我们报告了首例患有DLS并被诊断患有癌症(肾母细胞瘤,WT)的儿童,该患儿明显比典型发病年龄大得多。尽管仅这一例病例不足以保证对DLS患者进行常规WT筛查,但鉴于其极其罕见,我们不能排除DLS与WT易感性之间存在关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cbd8/12325027/b9c0e5719b78/fonc-15-1585492-g001.jpg

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