二代测序技术在非遗传性皮肤病领域中的运用

doi:10.35541/cjd.20220436

Abstract

Abstract: 【Abstract】 In recent years, the development of next-generation sequencing has broadened the prospect of determining the pathogenesis, signal pathways, and biomarkers of skin diseases. Due to the advantages in the recognition of nucleic acid sequences, next-generation sequencing can recognize not only microorganisms on normal skin surfaces, but also rare pathogens which were difficult to be identified before. This review summarizes the application of next-generation sequencing in non-hereditary dermatoses, aiming to explore their pathogenesis and improve their diagnosis.

Key words: Genomics, Gene order, Skin diseases, Skin neoplasms, Skin diseases, infectious, Next-generation sequencing

Hong Yongzhen, Wang Qian, Liang Junqin, . Application of next-generation sequencing in the field of non-hereditary dermatoses[J]. Chinese Journal of Dermatology,2024,e20220436. doi:10.35541/cjd.20220436

References ［36］

［1］	van Dijk EL, Auger H, Jaszczyszyn Y, et al. Ten years of next⁃generation sequencing technology［J］. Trends Genet, 2014,30（9）:418⁃426. doi: 10.1016/j.tig.2014.07.001.
［2］	阿苏瑞, 刘芳芳, 李睿亚, 等. 高通量测序在遗传性皮肤病中的应用及前景［J］. 内蒙古医学杂志, 2019,51（10）:1183⁃1185. doi: 10.16096/J.cnki.nmgyxzz.2019.51.10.010.
［3］	Dorado G, Gálvez S, Rosales TE, et al. Analyzing modern biomolecules: the revolution of nucleic⁃acid sequencing ⁃ review［J］. Biomolecules, 2021,11（8）:1111. doi: 10.3390/biom11081111.
［4］	Park JS, Saeidian AH, Youssefian L, et al. Inherited ichthyosis as a paradigm of rare skin disorders: genomic medicine, pathogenesis, and management［J］. J Am Acad Dermatol, 2022:S0190⁃9622（22）02444⁃6. doi: 10.1016/j.jaad.2022.08.012.
［5］	Zarabi SK, Azzato EM, Tu ZJ, et al. Targeted next generation sequencing（NGS） to classify melanocytic neoplasms［J］. J Cutan Pathol, 2020,47（8）:691⁃704. doi: 10.1111/cup.13695.
［6］	Manca A, Sini MC, Cesinaro AM, et al. NGS⁃based analysis of atypical deep penetrating nevi［J］. Cancers（Basel）, 2021,13（12）:3066. doi: 10.3390/cancers13123066.
［7］	Strazzula L, Senna MM, Yasuda M, et al. The deep penetrating nevus［J］. J Am Acad Dermatol, 2014,71（6）:1234⁃1240. doi: 10. 1016/j.jaad.2014.07.026.
［8］	Thomas NE, Edmiston SN, Tsai YS, et al. Utility of TERT promoter mutations for cutaneous primary melanoma diagnosis［J］. Am J Dermatopathol, 2019,41（4）:264⁃272. doi: 10.1097/DAD.0000000000001259.
［9］	Donati M, Kastnerova L, Martinek P, et al. Spitz tumors with ROS1 fusions: a clinicopathological study of 6 cases, including FISH for chromosomal copy number alterations and mutation analysis using next⁃generation sequencing［J］. Am J Dermatopathol, 2020,42（2）:92⁃102. doi: 10.1097/DAD.0000000000001499.
［10］	Lobl MB, Hass B, Clarey D, et al. Next⁃generation sequencing identifies novel single nucleotide polymorphisms in high⁃risk cutaneous squamous cell carcinoma: a pilot study［J］. Exp Dermatol, 2020,29（7）:667⁃671. doi: 10.1111/exd.14120.
［11］	Lazo de la Vega L, Bick N, Hu K, et al. Invasive squamous cell carcinomas and precursor lesions on UV⁃exposed epithelia demonstrate concordant genomic complexity in driver genes［J］. Mod Pathol, 2020,33（11）:2280⁃2294. doi: 10.1038/s41379⁃020⁃0571⁃7.
［12］	Chan JW, Yeh I, El⁃Sayed IH, et al. Ultraviolet light⁃related DNA damage mutation signature distinguishes cutaneous from mucosal or other origin for head and neck squamous cell carcinoma of unknown primary site［J］. Head Neck, 2019,41（6）:E82⁃E85. doi: 10.1002/hed.25613.
［13］	Geusau A, Borik⁃Heil L, Skalicky S, et al. Dysregulation of tissue and serum microRNAs in organ transplant recipients with cutaneous squamous cell carcinomas［J］. Health Sci Rep, 2020,3（4）:e205. doi: 10.1002/hsr2.205.
［14］	Omland SH, Wettergren EE, Mollerup S, et al. Cancer associated fibroblasts（CAFs） are activated in cutaneous basal cell carcinoma and in the peritumoural skin［J］. BMC Cancer, 2017,17（1）:675. doi: 10.1186/s12885⁃017⁃3663⁃0.
［15］	Abi Karam M, Kourie HR, Jalkh N, et al. Molecular profiling of basal cell carcinomas in young patients［J］. BMC Med Genomics, 2021,14（1）:187. doi: 10.1186/s12920⁃021⁃01030⁃w.
［16］	Bánvölgyi A, Anker P, Lőrincz K, et al. Smoothened receptor inhibitor vismodegib for the treatment of basal cell carcinoma: a retrospective analysis of efficacy and side effects［J］. J Dermatolog Treat, 2020,31（4）:387⁃398. doi: 10.1080/09546634.2019.1601155.
［17］	van Deutekom HW, Keşmir C. Zooming into the binding groove of HLA molecules: which positions and which substitutions change peptide binding most?［J］. Immunogenetics, 2015,67（8）:425⁃436. doi: 10.1007/s00251⁃015⁃0849⁃y.
［18］	Gong JJ, Margolis DJ, Monos DS. Predictive in silico binding algorithms reveal HLA specificities and autoallergen peptides associated with atopic dermatitis［J］. Arch Dermatol Res, 2020,312（9）:647⁃656. doi: 10.1007/s00403⁃020⁃02059⁃0.
［19］	Zheng J, Wu YY, Fang WL, et al. Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing［J］. Sci Rep, 2021,11（1）:21830. doi: 10.1038/s41598⁃ 021⁃01194⁃6.
［20］	Hepburn L, Hijnen DJ, Sellman BR, et al. The complex biology and contribution of Staphylococcus aureus in atopic dermatitis, current and future therapies［J］. Br J Dermatol, 2017,177（1）:63⁃71. doi: 10.1111/bjd.15139.
［21］	Kwon S, Choi JY, Shin JW, et al. Changes in lesional and non⁃lesional skin microbiome during treatment of atopic dermatitis［J］. Acta Derm Venereol, 2019,99（3）:284⁃290. doi: 10.2340/00015555⁃3089.
［22］	包佳, 韩建文. ERAP1基因与银屑病研究进展［J］. 中国中西医结合皮肤性病学杂, 2021,20（1）:105⁃109.
［23］	Langan EA, Griffiths C, Solbach W, et al. The role of the microbiome in psoriasis: moving from disease description to treatment selection?［J］. Br J Dermatol, 2018,178（5）:1020⁃1027. doi: 10.1111/bjd.16081.
［24］	Jo JH, Kennedy EA, Kong HH. Research techniques made simple: bacterial 16S ribosomal RNA gene sequencing in cutaneous research［J］. J Invest Dermatol, 2016,136（3）:e23⁃e27. doi: 10. 1016/j.jid.2016.01.005.
［25］	Cordel N, Derambure C, Coutant S, et al. TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti⁃TIF1γ positive cancer⁃associated dermatomyositis［J］. Rheumatology（Oxford）, 2021,60（12）:5863⁃5867. doi: 10. 1093/rheumatology/keab260.
［26］	Kim MJ, Kim MH, Park SH, et al. A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease［J］. Pediatr Rheumatol Online J, 2021,19（1）:100. doi: 10.1186/s12969⁃021⁃00598⁃y.
［27］	Aussy A, Fréret M, Gallay L, et al. The IgG2 isotype of anti⁃transcription intermediary factor 1γ autoantibodies is a biomarker of cancer and mortality in adult dermatomyositis［J］. Arthritis Rheumatol, 2019,71（8）:1360⁃1370. doi: 10.1002/art.40895.
［28］	Ma Z, Gharizadeh B, Cai X, et al. A comprehensive HPV⁃STI NGS assay for detection of 29 HPV types and 14 non⁃HPV sexually transmitted infections［J］. Infect Agent Cancer, 2022,17（1）:9. doi: 10.1186/s13027⁃022⁃00420⁃8.
［29］	Williams J, Kostiuk M, Biron VL. Molecular detection methods in HPV⁃related cancers［J］. Front Oncol, 2022,12:864820. doi: 10.3389/fonc.2022.864820.
［30］	陈江华, 毛亚文. DNA测序技术的发展进程［J］. 亚热带植物科学, 2018,47（1）:94⁃100. doi: 10.3969/j.issn.1009⁃7791.2018. 01.020.
［31］	Cornely OA, Alastruey⁃Izquierdo A, Arenz D, et al. Global guideline for the diagnosis and management of mucormycosis: an initiative of the European Confederation of Medical Mycology in cooperation with the Mycoses Study Group Education and Research Consortium［J］. Lancet Infect Dis, 2019,19（12）:e405⁃e421. doi: 10.1016/S1473⁃3099（19）30312⁃3.
［32］	Tsang CC, Teng J, Lau S, et al. Rapid genomic diagnosis of fungal infections in the age of next⁃generation sequencing［J］. J Fungi（Basel）, 2021,7（8）:636. doi: 10.3390/jof7080636.
［33］	Zhang L, Liu K, Liu L, et al. Disseminated Mycobacterium szulgai involving lung, lymph nodes and bone: a case report［J］. Ann Transl Med, 2022,10（3）:155. doi: 10.21037/atm⁃22⁃105.
［34］	Yoon JK, Kim TS, Kim JI, et al. Whole genome sequencing of nontuberculous mycobacterium（NTM） isolates from sputum specimens of co⁃habiting patients with NTM pulmonary disease and NTM isolates from their environment［J］. BMC Genomics, 2020,21（1）:322. doi: 10.1186/s12864⁃020⁃6738⁃2.
［35］	Fedrizzi T, Meehan CJ, Grottola A, et al. Genomic characterization of nontuberculous mycobacteria［J］. Sci Rep, 2017,7:45258. doi: 10.1038/srep45258.
［36］	Xing F, Lo S, Ma Y, et al. Rapid diagnosis of Mycobacterium marinum infection by next⁃generation sequencing: a case report［J］. Front Med（Lausanne）, 2022,9:824122. doi: 10.3389/fmed. 2022.824122.

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Application of next-generation sequencing in the field of non-hereditary dermatoses

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