探索早期检测 PTEN Hamartoma 肿瘤综合征的口腔特征的流行率。

IF 4.3 3区材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC

ACS Applied Electronic Materials Pub Date : 2024-05-01 DOI:10.1016/j.identj.2024.04.014

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引用次数: 0

摘要

目的：由于 PTEN 抑癌基因的致病性种系变异，PTEN 仓瘤肿瘤综合征（PHTS）患者罹患癌症的风险增加。PHTS的早期识别有助于启动癌症监测，这对预防晚期恶性肿瘤的发生非常有效。PHTS非常罕见，由于其表型各异，即使在家族中也是如此，因此口腔异常可能是在癌症发展前早期识别这些患者的重要工具：1997 年至 2020 年间，荷兰 PHTS 专家中心的两位医学专家之一每年对 81 名儿童 PHTS 患者（中位数年龄：9 岁）和 86 名成人 PHTS 患者（中位数年龄：40 岁）进行监测访问，评估他们的表型特征。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：在成人患者中，94%存在牙龈肥厚，88%存在口腔乳头状瘤，89%存在高腭。所有成人患者至少有一种口腔特征，99%的患者至少有两种口腔特征。口腔特征在儿童患者中较少见，尤其是 11 岁以下的儿童患者。44%的儿童患者出现牙龈肥大，54%的患者出现口腔乳头状瘤：结论：成人或青少年出现 2 或 3 个口腔特征可能预示着患有 PHTS，尤其是在出现巨头畸形的情况下。牙科专业人员完全有能力识别这些可能与 PHTS 有关的口腔表现。他们可以通过提醒患者的医生注意这些发现以及可能需要进行基因检测来启动对患者的整体临床评估。这将大大改善患者及其亲属的治疗效果，包括预期寿命：牙科专业人员是识别口腔特征和启动 PHTS 早期评估的理想人选，这将大大改善患者的预后。

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Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome

Aims

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.

Materials and 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.

Clinical relevance

Dental professionals are ideally placed to recognise oral features and initiate early assessment of PHTS which could significantly improve patient outcomes.

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来源期刊

ACS Applied Electronic Materials Multiple-

CiteScore

7.20

自引率

4.30%

发文量

567