Genetic Studies of Actinic Keratosis Development: Where Are We Now?

IF 1.5 4区 医学 Q3 DERMATOLOGY Annals of Dermatology Pub Date : 2023-12-13 DOI:10.5021/ad.23.072
Young Bok Lee, Jong-Il Kim
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Abstract

Actinic keratosis (AK) is a common precancerous skin lesion that can develop into cutaneous squamous cell carcinoma (CSCC). AK is characterized by atypical keratinocytes in the skin's outer layer and is commonly found in sun-exposed areas. Like many precancerous lesions, the development of AK is closely associated with genetic mutations. The molecular biology and transcriptional mechanisms underlying AK development are not well understood. Ultraviolet (UV) light exposure, especially UVA and UVB radiation, is a significant risk factor for AK, causing DNA damage and mutagenic effects. Besides UV exposure, comorbidities like diabetes, rheumatoid arthritis, and psoriasis may also influence AK development. AK patients have shown associations with various internal malignancies, indicating potential vulnerability in cancer-associated genes. Treatment for AK includes cryosurgery, electrodesiccation and curettage, chemotherapeutic creams, photodynamic therapy, or topical immune-modulators. Genomic studies have identified genetic aberrations in AK, with common mutations found in genes like TP53, NOTCH1, and NOTCH2. The progression from AK to CSCC involves chromosomal aberrations and alterations in oncogenes and tumor-suppressor genes. The functional relationships among these genes are not fully understood, but network analysis provides insights into their potential mechanisms. Further research is needed to enhance our understanding of AK's pathogenesis and develop novel therapeutic approaches.
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光化性角化病发展的遗传研究:我们现在在哪里?
日光性角化病(AK)是一种常见的癌前皮肤病变,可发展为皮肤鳞状细胞癌(CSCC)。AK的特征是皮肤外层的非典型角质细胞,常见于暴露在阳光下的部位。与许多癌前病变一样,AK 的发生与基因突变密切相关。AK发生的分子生物学和转录机制尚不十分清楚。紫外线(UV)照射,尤其是 UVA 和 UVB 辐射,是导致 AK 的重要风险因素,会造成 DNA 损伤和诱变效应。除紫外线照射外,糖尿病、类风湿性关节炎和银屑病等合并症也可能影响 AK 的发生。AK 患者与各种体内恶性肿瘤有关联,这表明与癌症相关的基因有潜在的脆弱性。AK 的治疗方法包括冷冻手术、电灼和刮除、化疗药膏、光动力疗法或局部免疫调节剂。基因组研究发现了 AK 的基因畸变,常见的基因突变包括 TP53、NOTCH1 和 NOTCH2。从 AK 发展为 CSCC 的过程涉及染色体畸变以及致癌基因和抑癌基因的改变。这些基因之间的功能关系尚未完全明了,但网络分析提供了对其潜在机制的见解。我们需要进一步开展研究,以加深对 AK 发病机制的了解,并开发新的治疗方法。
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来源期刊
Annals of Dermatology
Annals of Dermatology 医学-皮肤病学
CiteScore
1.60
自引率
6.20%
发文量
77
审稿时长
6-12 weeks
期刊介绍: Annals of Dermatology (Ann Dermatol) is the official peer-reviewed publication of the Korean Dermatological Association and the Korean Society for Investigative Dermatology. Since 1989, Ann Dermatol has contributed as a platform for communicating the latest research outcome and recent trend of dermatology in Korea and all over the world. Ann Dermatol seeks for ameliorated understanding of skin and skin-related disease for clinicians and researchers. Ann Dermatol deals with diverse skin-related topics from laboratory investigations to clinical outcomes and invites review articles, original articles, case reports, brief reports and items of correspondence. Ann Dermatol is interested in contributions from all countries in which good and advanced research is carried out. Ann Dermatol willingly recruits well-organized and significant manuscripts with proper scope throughout the world.
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