From bedside to genetic analysis: New insights into pathophysiology of melanoma, basal cell carcinoma, and other cancers.


Journal

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
ISSN: 1600-0846
Titre abrégé: Skin Res Technol
Pays: England
ID NLM: 9504453

Informations de publication

Date de publication:
Jul 2024
Historique:
received: 20 05 2024
accepted: 13 06 2024
medline: 28 6 2024
pubmed: 28 6 2024
entrez: 28 6 2024
Statut: ppublish

Résumé

Patients with myotonic muscular dystrophy (MMD) were observed to have numerous basal cell carcinoma (BCC) and abnormal dysplastic nevi (DN) on non-sun exposed skin. Simultaneously a large study published in the Journal of American Medical Association (JAMA) illustrated that patients with MMD have "overall" an increased risk for cancer development. Based on these findings, this author in 2010 postulated that dysregulation of RNA binding proteins (RBP), responsible for clinical manifestations of MMD, is also responsible for the development of BCC and melanoma. To report new research elucidating the etiology of melanoma, BCC, MMD-induced cancers, and potentially other environmentally induced malignancies. Dysregulation of RBP induces aberrant mRNA splicing; recent data indicates that abnormal mRNA splicing not just plays a key role in the pathogenesis of melanoma but is a hallmark of essentially all human malignancies. The author's hypothesis is that ultraviolet (UV) radiation induces DNA damage in intronic regions of a variety of genes. Furthermore, these UV-induced abnormal DNA dimers, repeats and mutations interfere with normal mRNA splicing thus producing abnormal proteins. These abnormal proteins in turn activate oncogenic pathways such as hedgehog, MAP kinase, and WNT.

Identifiants

pubmed: 38937899
doi: 10.1111/srt.13832
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

e13832

Informations de copyright

© 2024 The Author(s). Skin Research and Technology published by John Wiley & Sons Ltd.

Références

Zemtsov A. Association between basal, squamous cell carcinomas, dysplastic nevi, and myotonic muscular dystrophy indicates an important role of RNA‐binding proteins in development of human cancer. Arch Dermatol Res. 2010;302:169‐170.
Itin PH, Laeng RH. Multiple pigmented basaliomas of the scalp in a patient Curshman‐Steinert myotonic dystrophica: confirmation of a rare symptom constellation. Hautarzt. 2001;52:244‐246.
Steiler W, Plewig G. Multiple basliomas in Curshman‐Steinert myotonica atrophica. Hautarzt. 1986;37:226‐229.
D'Ambrosio ES, Gonzales‐Perez P. Cancer and myotonic dystrophy. J Clin Med. 2023. 12(5):1939. doi:10.3390/jcm12051939
Chi LM, Lam SL. Structural roles of CTG repeats in slippage expansion during DNA replication. Nucleic Acids Research. 2005;33:1604‐1617.
Gadalla SM, Lund M, Pfeiffer RM, et al. Cancer risk among patients with myotonic muscular dystrophy. JAMA. 2011;306:2480‐2486.
Zampetti A, Silvestri G, Manco S, et al. Dysplastic nevi, cutaneous melanomas and other skin neoplasms in patients with myotonic dystrophy type 1: a cross‐sectional study. J Am Acad Dermatol. 2015;72:85–91.
Wang Y, Pfeiffer RM, Alsaggaf R, et al. Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the UK. Clinical practical research datalink. Int J Cancer. 2018;142:1174–1181.
Mueller CM, Hilbert JE, Matrtens W, et al. Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control. 2009;20:2009–2020.
Gajos‐Michniewicz A, Czyz M. WNT signaling in melanoma. Int J Mol Sci. 2020;21:4852. doi:10.3390/ijms21144582
Chen W, Geng D, Chen J, et al. Roles and mechanisms of aberrant alternative splicing in melanoma—implications for targeted therapy and immunotherapy resistance. Cancer Cell Int. 2024;24:101. doi:10.1186/s12935‐024‐03280‐x
Muñoz MJ, Pérez Santagelo MS, Paronetto MS, et al. DNA damage regulates alternative splicing through inhibition of RNA polymerase 2 elongatin. Cell. 2009;137:708–720.
Hussein M, Wood GS. hMLH1 and Hmsh2 gene mutations are present in radial growth‐phase cutaneous melanoma cell lines and can be induced by ultraviolet—B irradiation. Exp Dermatol. 2003:12:872‐875.
Sinha RP, Häder DP. UV‐induced DNA damage and repair: a review. Photochem Photobiol Sci. 2002;1:225–236.
Rastog RP, Richa, Kumar A, Tyagi MB, Sinha RP.. Molecular mechanisms of ultraviolet radiation‐induced DNA damage and repair. J Nucleic Acids. 2010;2010:592980. doi:10.4061/2010/592980
Ravanat JL, Douki T, Cadet J. Direct and indirect effects of UV radiation on DNA and its components. J Photochem Photobiol B. 2001;63:88–102.
Mao P, Smerdon MJ, Roberts SA, Wyrick JJ. Chromosomal landscape of UV damage formation and repair at single‐nucleotide resolution. Proc Natl Acad Sci USA. 2016;113:9057–9062.
Hu J, Adebali O, Adar S, Sancar A. Dynamic maps of UV damage formation and repair for the human genome. Proc Natl Acad Sci USA. 2017;114:6758–6763.

Auteurs

Alexander Zemtsov (A)

University Dermatology Center, Muncie, Indiana, USA.
Department of Dermatology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

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