目的:患有PTEN错构瘤综合征(PHTS)的患者由于PTEN抑癌基因中的致病性种系变异而发生癌症的风险增加。PHTS的早期识别有助于癌症监测的启动,这在预防晚期恶性肿瘤的发展中是非常有效的。PHTS是罕见的,由于其不同的表型,即使在家庭中,口腔异常可能是在癌症发展之前的早期识别这些患者的有价值的工具。
方法:在1997年至2020年之间,由2位医学专家之一在荷兰PHTS专家中心的年度监测访视期间,对81名儿科(中位年龄:9岁)和86名成人(中位年龄:40岁)PHTS患者的表型特征进行了评估。评估的口腔特征包括牙龈肥大,口腔乳头状瘤,和高腭(成人)。
结果:在成年人中,94%存在牙龈肥大,口腔乳头状瘤占88%,89%的高腭。所有成年患者至少有一种口腔特征,99%显示至少2个口腔特征。口腔特征在儿科患者中并不常见,特别是在11岁以下。在44%的儿科患者中观察到牙龈肥大,在54%的儿科患者中观察到口腔乳头状瘤。
结论:2或3个口腔特征的存在可能表明成人或青少年的PHTS,特别是如果有大头畸形的话.牙科专业人员很好地认识到这些口腔表现可能与PHTS有关。他们可以通过提醒患者的医生发现和可能需要进行基因检测来启动对患者的整体临床评估。这可以显著改善结果,包括预期寿命,对病人,也可能对他们的亲属。
结论:牙科专业人员非常适合识别口腔特征并开始早期评估PHTS,这可以显着改善患者的预后。
OBJECTIVE: Patients with PTEN hamartoma tumour syndrome (PHTS) have an increased risk of developing cancer due to a pathogenic germline variant in the PTEN tumour suppressor gene. Early recognition of PHTS facilitates initiation of cancer surveillance which is highly effective in preventing the development of advanced malignancies. PHTS is rare and due to its varied phenotype, even within families, oral abnormalities may be a valuable tool in the identification of these patients at an early stage before cancer development.
METHODS: Between 1997 and 2020, phenotypic characteristics were evaluated in 81 paediatric (median age: 9 years) and 86 adult (median age: 40 years) PHTS patients by one of 2 medical experts during yearly surveillance visits at a Dutch PHTS expertise centre. Oral features evaluated included gingival hypertrophy, oral papillomas, and high palate (in adults).
RESULTS: Within adults, gingival hypertrophy was present in 94%, oral papillomas in 88%, and a high palate in 89%. All adult patients had at least one of these oral features, and 99% showed at least 2 oral features. Oral features were less common in paediatric patients, especially under 11 years of age. Gingival hypertrophy was observed in 44% and oral papillomas in 54% of paediatric patients.
CONCLUSIONS: The presence of 2 or 3 oral features may indicate PHTS in adults or adolescents, especially if macrocephaly is present. Dental professionals are well-positioned to recognise these oral manifestations could be related to PHTS. They can initiate an overall clinical assessment of the patient by alerting the patient\'s medical practitioner of the findings and the possible need for genetic testing. This could significantly improve outcomes, including life expectancy, for patients and possibly for their relatives.
CONCLUSIONS: Dental professionals are ideally placed to recognise oral features and initiate early assessment of PHTS which could significantly improve patient outcomes.