Peterman Caitlin M, Fevurly R Dawn, Alomari Ahmad I, Trenor Cameron C, Adams Denise M, Vadeboncoeur Sophie, Liang Marilyn G, Greene Arin K, Mulliken John B, Fishman Steven J
Tufts University School of Medicine, Boston, Massachusetts.
Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26684. Epub 2017 Jun 19.
CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients.
We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT. A PubMed literature search was also conducted to find other patients with both conditions.
A total of 122 patients with CLOVES syndrome were found in our database (mean age 7.7 years, range 0-53 years). Four patients developed WT; all were diagnosed by 2 years of age. The incidence of WT in our CLOVES patient population (3.3%) was significantly greater than the incidence of WT in the general population (1/10,000) (P < 0.001). Four additional patients with WT and CLOVES syndrome were identified in our literature review.
Patients with CLOVES syndrome have an increased risk of WT. Given the benefits of early detection and treatment, children with CLOVES syndrome should be considered for quarterly abdominal ultrasonography until age 7 years. Screening may be most beneficial for patients under 3 years of age.
CLOVES综合征与体细胞镶嵌型PIK3CA突变相关，其特征为先天性脂肪瘤过度生长、血管畸形、表皮痣和骨骼异常。肾母细胞瘤（WT）是一种与半侧肥大及某些过度生长性疾病相关的恶性胚胎性肾肿瘤。在一名患有CLOVES综合征的儿童中发现WT后，我们质疑这些患者是否有必要进行超声筛查。
我们回顾性分析了1998年至2016年间在波士顿儿童医院血管异常中心就诊的CLOVES综合征患者，以确定那些发生WT的患者。还进行了PubMed文献检索以查找其他同时患有这两种疾病的患者。
在我们的数据库中总共发现了122例CLOVES综合征患者（平均年龄7.7岁，范围0 - 53岁）。4例患者发生了WT；均在2岁前被诊断出来。我们的CLOVES患者群体中WT的发生率（3.3%）显著高于一般人群中WT的发生率（1/10,000）（P < 0.001）。在我们的文献综述中又发现了4例患有WT和CLOVES综合征的患者。
CLOVES综合征患者发生WT的风险增加。鉴于早期检测和治疗的益处，对于患有CLOVES综合征的儿童，应考虑在7岁之前每季度进行腹部超声检查。筛查可能对3岁以下的患者最为有益。
