Somatic mutations in kinetochore gene KNSTRN are associated with basal proliferating actinic keratoses and cutaneous squamous cell carcinoma
| العنوان: | Somatic mutations in kinetochore gene |
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| المؤلفون: | B. Novak, Lutz Schmitz, Eggert Stockfleth, Thomas Dirschka, Thilo Gambichler, Beni Grinblat, Rolf-Markus Szeimies, E. Bierhoff, Cyro Festa-Neto, Luis Torezan, K. Händschke, C. von Dobbeler, A.‐K. Hoeh |
| المصدر: | Journal of the European Academy of Dermatology and Venereology. 33:1535-1540 |
| بيانات النشر: | Wiley, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | 0301 basic medicine, Skin Neoplasms, Somatic cell, Cell Cycle Proteins, Dermatology, medicine.disease_cause, 030207 dermatology & venereal diseases, 03 medical and health sciences, Basal (phylogenetics), symbols.namesake, 0302 clinical medicine, Germline mutation, medicine, Humans, Mutation frequency, Kinetochores, Gene, Retrospective Studies, Sanger sequencing, Mutation, business.industry, Actinic keratosis, medicine.disease, Molecular biology, Keratosis, Actinic, 030104 developmental biology, Infectious Diseases, Carcinoma, Squamous Cell, Disease Progression, symbols, business, Microtubule-Associated Proteins |
| الوصف: | BACKGROUND Mutations in kinetochore gene KNSTRN accelerate the development of cutaneous squamous cell carcinoma (SCC) and may correlate with different histological classifications of actinic keratosis (AKs). OBJECTIVE To determine KNSTRN gene mutation frequency in healthy skin (HS), actinically damaged skin (ADS), in AKs with different histomorphological gradings and invasive SCCs. METHODS All samples were histologically evaluated. AK lesions were additionally classified according to their upwards (AK I-III) and downwards (PRO I-III) directed growth pattern. Mutation analyses of all samples were performed using the Sanger method. RESULTS With one exception, all detected mutations in KNSTRN gene showed an alanine-to-glutamate substitution at codon 40 (p.Ala40Glu). p.Ala40Glu mutation was found in 6.9% (2/29) of HS, in 16.1% (5/31) of ADS, in 18.3% (20/109) of AKs and in 30.0% (9/30) of invasive SCCs. Further stratification of AKs using the common AK classification of Rowert-Huber revealed the p.Ala40Glu mutation in 14.7% (5/43), 13.3% (4/30) and 24.4% (11/45) (AK I, II and III). In contrast, the new PRO classification showed a distribution of 3.6% (1/28) in PRO I, 21.7% (13/60) in PRO II and 28.6% (6/21) in PRO III. Mutation frequency in HS showed significant differences compared to AKs classified as PRO III and invasive SCCs (P |
| تدمد: | 1468-3083 0926-9959 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42ef278a75bb15abe4b0fb090941bc5 https://doi.org/10.1111/jdv.15615 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....f42ef278a75bb15abe4b0fb090941bc5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14683083 09269959 |
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