Rostagni Olivia M, Early Charlotte Lr, Hodges Mia B, Obasohan Justice O, Sapp Julie C, Livinski Alicia A, Biesecker Leslie G, Ours Christopher A
Center for Precision Health Research, National Human Genome Research Institute, Bethesda, Maryland, USA.
Office of Research Services, Office of the Director, National Institutes of Health Library, Bethesda, Maryland, USA.
J Med Genet. 2025 Jan 27;62(2):74-81. doi: 10.1136/jmg-2024-110173.
-related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. We conducted a systematic review to determine the range and characteristics of these tumours. A systematic review was conducted to identify clinical reports and clinical series of Proteus syndrome published between 1983 and 2023. Affected individuals were selected based on existing Proteus syndrome diagnostic criteria and expert review. Six databases were searched, and each unique record was screened independently by two authors. Two authors extracted the following data from each included report per individual: demographics, tumour diagnosis, characteristics, outcome, clinical features of Proteus syndrome and report of genetic testing. The literature searches yielded 3074 records of which 1239 were unique and screened. After screening, 190 records were included. These represented 205 unique individuals with Proteus syndrome. There were 38 individuals (19%) with at least one tumour diagnosis. The average age of tumour diagnosis was 15.1 years (SD 12.1). The most frequent tumour sites were genitourinary/gynaecologic (25 tumours, 53%) followed by the central nervous system (11 tumours, 23%). Most tumours were benign and treated with surgery alone. This systematic review provides a summary of Proteus syndrome-associated tumours from the literature. These data assist clinicians in the diagnosis and prognosis of these tumours. The study highlights the knowledge gap of possible adult-onset tumours and long-term outcomes, which requires further research. CRD42021237914.
相关的变形综合征是一种极为罕见的伴有肿瘤易感性的嵌合性过度生长疾病。我们进行了一项系统综述，以确定这些肿瘤的范围和特征。开展了一项系统综述，以识别1983年至2023年间发表的变形综合征的临床报告和临床系列研究。根据现有的变形综合征诊断标准和专家评审选择受影响个体。检索了六个数据库，每条独特记录由两位作者独立筛选。两位作者从每份纳入报告中的每个个体提取以下数据：人口统计学、肿瘤诊断、特征、结局、变形综合征的临床特征以及基因检测报告。文献检索共获得3074条记录，其中1239条为独特记录并进行了筛选。筛选后，纳入190条记录。这些记录代表了205名患有变形综合征的独特个体。有38名个体（19%）至少有一项肿瘤诊断。肿瘤诊断的平均年龄为15.1岁（标准差12.1）。最常见的肿瘤部位是泌尿生殖系统/妇科（25例肿瘤，53%），其次是中枢神经系统（11例肿瘤，23%）。大多数肿瘤为良性，仅通过手术治疗。这项系统综述总结了文献中与变形综合征相关的肿瘤。这些数据有助于临床医生对这些肿瘤进行诊断和预后评估。该研究突出了成人期可能出现的肿瘤以及长期结局方面的知识空白，这需要进一步研究。国际系统综述注册编号：CRD42021237914。
