Department of Clinical Genetics, Odense University Hospital, J.B. Winsløws Vej 4, Indgang 24, 5000, Odense C, Denmark.
Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Orphanet J Rare Dis. 2023 Sep 13;18(1):290. doi: 10.1186/s13023-023-02862-8.
An association between punctate palmoplantar keratoderma type 1 (PPPK1) and malignancy has been proposed for decades. Some authors suggest that individuals with PPPK1 should undergo screening for various types of malignancies while others caution that an association is not well-established. In this systematic review, we summarized and evaluated the current evidence for a possible association between PPPK1 and malignancy.
The review was conducted along PRISMA guidelines. The search used Embase, MEDLINE, Scopus, and the Human Gene Mutation Database up to March 2022. All studies reporting on individuals with the diagnosis of PPPK1 with or without history of malignancy were included. Two authors screened for eligible studies, extracted predefined data, and performed a quality assessment.
Of 773 studies identified, 45 were included. Most studies were reports on single families (24 of 45 studies) or multiple families (10 of 45 studies). The number of index cases with PPPK1 across all included studies was 280, and when family members reported with PPPK1 were added, a total of 817 individuals were identified. Overall, 23 studies reported on individuals with PPPK1 with a history of malignancy, whereas 22 studies reported on individuals with PPPK1 without a history of malignancy. Although the extracted data were not considered to be of sufficient quality to synthesize and answer our research question, the review did not confirm an association between PPPK1 and malignancy.
This review shows that there is a lack of well-designed studies on this topic to conclude whether individuals with PPPK1 have an increased risk of malignancy. Based on the present literature, however, we could not confirm an association between PPPK1 and malignancy and find it highly questionable if patients with PPPK1 should be offered surveillance for malignancies.
数十年来，点状掌跖角化病 1 型（PPPK1）与恶性肿瘤之间的关联一直存在争议。一些作者认为，PPPK1 患者应接受各种类型恶性肿瘤的筛查，而另一些作者则警告称，这种关联尚未得到充分证实。在本系统评价中，我们总结并评估了 PPPK1 与恶性肿瘤之间可能存在关联的现有证据。
本综述遵循 PRISMA 指南进行。检索使用了 Embase、MEDLINE、Scopus 和人类基因突变数据库，检索时间截至 2022 年 3 月。所有报告诊断为 PPPK1 患者（有或无恶性肿瘤病史）的研究均被纳入。两位作者筛选符合条件的研究，提取预设数据，并进行质量评估。
共确定了 773 项研究，其中 45 项被纳入。大多数研究为单一家庭（24 项研究中的 24 项）或多个家庭（45 项研究中的 10 项）的报告。所有纳入研究的 PPPK1 指数病例数为 280 例，加上报告有 PPPK1 的家族成员，共确定了 817 名个体。总体而言，23 项研究报告了 PPPK1 患者有恶性肿瘤病史，而 22 项研究报告了 PPPK1 患者无恶性肿瘤病史。尽管提取的数据质量不足以进行综合分析以回答我们的研究问题，但该综述并未证实 PPPK1 与恶性肿瘤之间存在关联。
本综述表明，关于这一主题的高质量研究较少，无法得出 PPPK1 患者恶性肿瘤风险是否增加的结论。然而，根据目前的文献，我们无法确认 PPPK1 与恶性肿瘤之间存在关联，并且高度怀疑 PPPK1 患者是否应接受恶性肿瘤监测。
