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

Jong-Il Kim|Young Bok Lee
대한피부과학회 (Korean Dermalogical Association)|2023.12|Annals of Dermatology|제35권 제6호|pp. 389-399

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참고문헌

키워드

Actinic keratosisCutaneous squamous cell carcinoma
주제분류피부과학

초록

Actinic keratosis (AK) is a common precancerous skin lesion that can develop into cutane- ous 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 under- stood. 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 inf luence AK development. AK patients have shown associations with various internal malignancies, in- dicating potential vulnerability in cancer-associated genes. Treatment for AK includes cryo- surgery, 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 progres- sion from AK to CSCC involves chromosomal aberrations and alterations in oncogenes and tumor-suppressor genes. The functional relationships among these genes are not fully un- derstood, 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.

Abstract

Actinic keratosis (AK) is a common precancerous skin lesion that can develop into cutane- ous 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 under- stood. 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 inf luence AK development. AK patients have shown associations with various internal malignancies, in- dicating potential vulnerability in cancer-associated genes. Treatment for AK includes cryo- surgery, 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 progres- sion from AK to CSCC involves chromosomal aberrations and alterations in oncogenes and tumor-suppressor genes. The functional relationships among these genes are not fully un- derstood, 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.

참고문헌 (48)

  1. Criscione VD, "Actinic keratoses : natural history and risk of malignant transformation in the Veterans Affairs Topical Tretinoin Chemoprevention Trial", Cancer, 115, pp.2523~2530 (2009)
  2. Ashton KJ, "Chromosomal aberrations in squamous cell carcinoma and solar keratoses revealed by comparative genomic hybridization", Arch Dermatol, 139, pp.876~882 (2003)
  3. Martincorena I, "Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin", Science, 348, pp.880~886 (2015)
  4. Lee JH, "Incidence of actinic keratosis and risk of skin cancer in subjects with actinic keratosis : a population-based cohort study", Acta Derm Venereol, 98, pp.382~383 (2018)
  5. Warino L, "Frequency and cost of actinic keratosis treatment", Dermatol Surg, 32, pp.1045~1049 (2006)
  6. Perera E, "Cost for the treatment of actinic keratosis on the rise in Australia", F1000Res, 3, pp.184~ (2014)
  7. Kim Y, "Ultraviolet radiation-induced non-melanoma skin cancer : regulation of DNA damage repair and inflammation", Genes Dis, 1, pp.188~198 (2014)
  8. Schuch AP, "Sunlight damage to cellular DNA : focus on oxidatively generated lesions", Free Radic Biol Med, 107, pp.110~124 (2017)
  9. Ridley AJ, "Cellular and sub-cellular responses to UVA in relation to carcinogenesis", Int J Radiat Biol, 85, pp.177~195 (2009)
  10. Wischermann K, "UVA radiation causes DNA strand breaks, chromosomal aberrations and tumorigenic transformation in HaCaT skin keratinocytes", Oncogene, 27, pp.4269~4280 (2008)
  11. Narayanan DL, "Ultraviolet radiation and skin cancer", Int J Dermatol, 49, pp.978~986 (2010)
  12. Lee Y, "Actinic keratosis and diabetes complications : a nationwide population-based study in South Korea(2009-2015)", Diabetes Metab, 45, pp.32~38 (2019)
  13. Kim HJ, "Association of actinic keratosis with rheumatoid arthritis and psoriasis : a nationwide population-based study in Korea", Acta Derm Venereol, 101, pp.adv00510~ (2021)
  14. Lee YB, "Positive association between actinic keratosis and internal malignancies : a nationwide population-based cohort study", Sci Rep, 11, pp.19769~ (2021)
  15. Worley B, "Treatment of actinic keratosis : a systematic review", Arch Dermatol Res, 315, pp.1099~1108 (2023)
  16. Rehman I, "Genetic change in actinic keratoses", Oncogene, 12, pp.2483~2490 (1996)
  17. Rehman I, "Low frequency of allelic loss in skin tumours from immunosuppressed individuals", Br J Cancer, 76, pp.757~759 (1997)
  18. Jin Y, "Clonal chromosome abnormalities in premalignant lesions of the skin", Cancer Genet Cytogenet, 136, pp.48~52 (2002)
  19. Mortier L, "Progression of actinic keratosis to squamous cell carcinoma of the skin correlates with deletion of the 9p21 region encoding the p16(INK4a)tumor suppressor", Cancer Lett, 176, pp.205~214 (2002)
  20. Toll A, "MYC gene numerical aberrations in actinic keratosis and cutaneous squamous cell carcinoma", Br J Dermatol, 161, pp.1112~1118 (2009)
  21. García-Díez I, "Transcriptome and cytogenetic profiling analysis of matched in situ", invasive cutaneous squamous cell carcinomas from immunocompetent patients, 2019, pp.58, 164~174
  22. Thomson J, "The genomic landscape of actinic keratosis", J Invest Dermatol, 141, pp.1664~1674 (2021)
  23. Nelson MA, "Analysis of the p53 gene in human precancerous actinic keratosis lesions and squamous cell cancers", Cancer Lett, 85, pp.23~29 (1994)
  24. Nindl I, "Identification of differentially expressed genes in cutaneous squamous cell carcinoma by microarray expression profiling", Mol Cancer, 5, pp.30~ (2006)
  25. Dang C, "Tenascin-C patterns and splice variants in actinic keratosis and cutaneous squamous cell carcinoma", Br J Dermatol, 155, pp.763~770 (2006)
  26. Padilla RS, "Gene expression patterns of normal human skin, actinic keratosis, and squamous cell carcinoma : a spectrum of disease progression", Arch Dermatol, 146, pp.288~293 (2010)
  27. Ra SH, "Molecular discrimination of cutaneous squamous cell carcinoma from actinic keratosis and normal skin", Mod Pathol, 24, pp.963~973 (2011)
  28. Jacobs LC, "IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color", Hum Mol Genet, 24, pp.3296~3303 (2015)
  29. Chitsazzadeh V, "Cross-species identification of genomic drivers of squamous cell carcinoma development across preneoplastic intermediates", Nat Commun, 7, pp.12601~ (2016)
  30. Kim YS, "Genomic progression of precancerous actinic keratosis to squamous cell carcinoma", J Invest Dermatol, 142(3 Pt A), pp.528~538 (2022)
  31. Rodríguez-Paredes M, "Methylation profiling identifies two subclasses of squamous cell carcinoma related to distinct cells of origin", Nat Commun, 9, pp.577~ (2018)
  32. Albibas AA, "Subclonal evolution of cancer-related gene mutations in p53 immunopositive patches in human skin", J Invest Dermatol, 138, pp.189~198 (2018)
  33. Srinivas N, "TERT promoter mutations in actinic keratosis before and after treatment", Int J Cancer, 146, pp.2932~2934 (2020)
  34. Trager MH, "Transcriptomic analysis identifies differences in gene expression in actinic keratoses after treatment with imiquimod and between responders and non responders", Sci Rep, 11, pp.8775~ (2021)
  35. Doncheva NT, "Cytoscape stringApp : network analysis and visualization of proteomics data", J Proteome Res, 18, pp.623~632 (2019)
  36. Nindl I, "Low prevalence of p53, p16(INK4a) and Haras tumour-specific mutations in low-graded actinic keratosis", Br J Dermatol, 156(Suppl 3), pp.34~39 (2007)
  37. Kanellou P, "Genomic instability, mutations and expression analysis of the tumour suppressor genes p14(ARF), p15(INK4b), p16(INK4a)and p53 in actinic keratosis", Cancer Lett, 264, pp.145~161 (2008)
  38. Hameetman L, "Molecular profiling of cutaneous squamous cell carcinomas and actinic keratoses from organ transplant recipients", BMC Cancer, 13, pp.58~ (2013)
  39. Lambert SR, "Key differences identified between actinic keratosis and cutaneous squamous cell carcinoma by transcriptome profiling", Br J Cancer, 110, pp.520~529 (2014)
  40. Das Mahapatra K, "A comprehensive analysis of coding and non-coding transcriptomic changes in cutaneous squamous cell carcinoma", Sci Rep, 10, pp.3637~ (2020)
  41. Azimi A, "Data independent acquisition proteomic analysis can discriminate between actinic keratosis, Bowen's disease, and cutaneous squamous cell carcinoma", J Invest Dermatol, 140, pp.212~222 (2020)
  42. Zou DD, "Identification of key genes in cutaneous squamous cell carcinoma : a transcriptome sequencing and bioinformatics profiling study", Ann Transl Med, 9, pp.1497~ (2021)
  43. Baubec T, "Genomic patterns and context specific interpretation of DNA methylation", Curr Opin Genet Dev, 25, pp.85~92 (2014)
  44. Baylin SB, "A decade of exploring the cancer epigenome-biological and translational implications", Nat Rev Cancer, 11, pp.726~734 (2011)
  45. Stirzaker C, "Mining cancer methylomes : prospects and challenges", Trends Genet, 30, pp.75~84 (2014)
  46. Costa-Pinheiro P, "Diagnostic and prognostic epigenetic biomarkers in cancer", Epigenomics, 7, pp.1003~1015 (2015)
  47. Hervás-Marín D, "Genome wide DNA methylation profiling identifies specific epigenetic features in high-risk cutaneous squamous cell carcinoma", PLoS One, 14, pp.e0223341~ (2019)
  48. Chiles MC, "E-cadherin promoter hypermethylation in preneoplastic and neoplastic skin lesions", Mod Pathol, 16, pp.1014~1018 (2003)

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