ReviewMedicina (Kaunas, Lithuania)2024
Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review.
Review in Medicina (Kaunas, Lithuania), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed.
- PTEN negative adenocarcinoma developed in a gastric hamartoma polyp of a Cowden syndrome patient.Clinical journal of gastroenterology · 2026Article
- Cowden syndrome-like phenotype with lymphangioma circumscriptum and an APC variant of uncertain significance.JAAD case reports · 2026Article
- Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Archives of gynecology and obstetrics · 2026Review
- Multifocal Epithelial Hyperplasia: Persistence in Adulthood and Treatment-A Case Report.Case reports in dentistry · 2026Article
- Mutation detection in women diagnosed with endometrial cancer: a next-generation sequencing analysis.Molecular & cellular oncology · 2026Article
- Multi-modal Malignancies in Cowden Syndrome: Diagnostic Challenges in a Suspected Case From a Low-Resource Setting.Cureus · 2025Article
- Causative Genes of Homologous Recombination Deficiency (HRD)-Related Breast Cancer and Specific Strategies at Present.Current oncology (Toronto, Ont.) · 2025Review
- Two illustrative cases of adult Lhermitte-Duclos disease and a systematic review of literature related to surgical management.Brain & spine · 2025Article
- Case Report: A case series of Lhermitte-Duclos disease with surgical intervention.Frontiers in oncology · 2025Article
- Peribronchial Arteriovenous Malformation with Cowden Syndrome: A Rare Case Report.Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PTEN Hamartoma Tumour Syndrome (PHTS) encompasses diverse clinical phenotypes, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome. This autosomal dominant genetic predisposition with high penetrance arises from heterozygous germline variants in the PTEN tumour suppressor gene, leading to dysregulation of the PI3K/AKT/mTOR signalling pathway, which promotes the overgrowth of multiple and heterogenous tissue types. Clinical presentations of CS range from benign and malignant disorders, affecting nearly every system within the human body. CS is the most diagnosed syndrome among the PHTS group, notwithstanding its weak incidence (1:200,000), for which it is considered rare, and its precise incidence remains unknown among other important factors. The literature is notably inconsistent in reporting the frequencies and occurrences of these disorders, adding an element of bias and uncertainty when looking back at the available research. In this review, we aimed to highlight the significant disparities found in various studies concerning CS and to review the clinical manifestations encountered in CS patients. Furthermore, we intended to emphasize the great significance of early diagnosis as patients will benefit from a longer lifespan while being unceasingly advised and supported by a multidisciplinary team.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.