دورية أكاديمية
Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review.
| العنوان: | Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review. |
|---|---|
| المؤلفون: | Pîrlog LM; Department of Molecular Sciences, Faculty of Medicine, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400012 Cluj-Napoca, Romania., Pătrășcanu AA; Department of Molecular Sciences, Faculty of Medicine, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400012 Cluj-Napoca, Romania., Militaru MS; Department of Molecular Sciences, Faculty of Medicine, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400012 Cluj-Napoca, Romania.; Regional Laboratory Cluj-Napoca, Department of Medical Genetics, Regina Maria Health Network, 400363 Cluj-Napoca, Romania., Cătană A; Department of Molecular Sciences, Faculty of Medicine, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400012 Cluj-Napoca, Romania.; Regional Laboratory Cluj-Napoca, Department of Medical Genetics, Regina Maria Health Network, 400363 Cluj-Napoca, Romania.; Department of Oncogenetics, 'Prof. Dr. I. Chiricuță' Institute of Oncology, 400015 Cluj-Napoca, Romania. |
| المصدر: | Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2024 May 06; Vol. 60 (5). Date of Electronic Publication: 2024 May 06. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2018- : Basel, Switzerland : MDPI Original Publication: Kaunas : Lietuvos gydytojų sąjunga |
| مواضيع طبية MeSH: | Hamartoma Syndrome, Multiple*/genetics , Hamartoma Syndrome, Multiple*/diagnosis , PTEN Phosphohydrolase*/genetics, Female ; Humans ; Proteus Syndrome/genetics ; Proteus Syndrome/diagnosis ; Male |
| مستخلص: | 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. Competing Interests: The authors declare no conflicts of interest. |
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| فهرسة مساهمة: | Keywords: Cowden syndrome; PTEN; clinical disorders; review |
| المشرفين على المادة: | EC 3.1.3.67 (PTEN Phosphohydrolase) EC 3.1.3.67 (PTEN protein, human) |
| تواريخ الأحداث: | Date Created: 20240525 Date Completed: 20240525 Latest Revision: 20240528 |
| رمز التحديث: | 20240528 |
| مُعرف محوري في PubMed: | PMC11123368 |
| DOI: | 10.3390/medicina60050767 |
| PMID: | 38792950 |
| قاعدة البيانات: | MEDLINE |
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