Next-generation sequencing in dermatology
Over the past decade, Next-Generation Sequencing (NGS) has advanced our understanding, diagnosis, and management of several areas within dermatology. NGS has emerged as a powerful tool for diagnosing genetic diseases of the skin, improving upon traditional PCR-based techniques limited by significant...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-09-01
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| Series: | Frontiers in Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2023.1218404/full |
| _version_ | 1827804187797225472 |
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| author | Andrew D. King Hany Deirawan Paytra A. Klein Bahar Dasgeb Catherine I. Dumur Darius R. Mehregan |
| author_facet | Andrew D. King Hany Deirawan Paytra A. Klein Bahar Dasgeb Catherine I. Dumur Darius R. Mehregan |
| author_sort | Andrew D. King |
| collection | DOAJ |
| description | Over the past decade, Next-Generation Sequencing (NGS) has advanced our understanding, diagnosis, and management of several areas within dermatology. NGS has emerged as a powerful tool for diagnosing genetic diseases of the skin, improving upon traditional PCR-based techniques limited by significant genetic heterogeneity associated with these disorders. Epidermolysis bullosa and ichthyosis are two of the most extensively studied genetic diseases of the skin, with a well-characterized spectrum of genetic changes occurring in these conditions. NGS has also played a critical role in expanding the mutational landscape of cutaneous squamous cell carcinoma, enhancing our understanding of its molecular pathogenesis. Similarly, genetic testing has greatly benefited melanoma diagnosis and treatment, primarily due to the high prevalence of BRAF hot spot mutations and other well-characterized genetic alterations. Additionally, NGS provides a valuable tool for measuring tumor mutational burden, which can aid in management of melanoma. Lastly, NGS demonstrates promise in improving the sensitivity of diagnosing cutaneous T-cell lymphoma. This article provides a comprehensive summary of NGS applications in the diagnosis and management of genodermatoses, cutaneous squamous cell carcinoma, melanoma, and cutaneous T-cell lymphoma, highlighting the impact of NGS on the field of dermatology. |
| first_indexed | 2024-03-11T21:07:20Z |
| format | Article |
| id | doaj.art-e130e8092fd24557846f1f22f2e97e30 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-03-11T21:07:20Z |
| publishDate | 2023-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-e130e8092fd24557846f1f22f2e97e302023-09-29T12:48:21ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2023-09-011010.3389/fmed.2023.12184041218404Next-generation sequencing in dermatologyAndrew D. King0Hany Deirawan1Paytra A. Klein2Bahar Dasgeb3Catherine I. Dumur4Darius R. Mehregan5Department of Dermatology, Wayne State University School of Medicine, Detroit, MI, United StatesDepartment of Dermatology, Wayne State University School of Medicine, Detroit, MI, United StatesAlbany Medical College, Albany, NY, United StatesDepartment of Surgical Oncology, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, United StatesBernhardt Laboratories, Sonic Healthcare Anatomic Pathology Division, Jacksonville, FL, United StatesDepartment of Dermatology, Wayne State University School of Medicine, Detroit, MI, United StatesOver the past decade, Next-Generation Sequencing (NGS) has advanced our understanding, diagnosis, and management of several areas within dermatology. NGS has emerged as a powerful tool for diagnosing genetic diseases of the skin, improving upon traditional PCR-based techniques limited by significant genetic heterogeneity associated with these disorders. Epidermolysis bullosa and ichthyosis are two of the most extensively studied genetic diseases of the skin, with a well-characterized spectrum of genetic changes occurring in these conditions. NGS has also played a critical role in expanding the mutational landscape of cutaneous squamous cell carcinoma, enhancing our understanding of its molecular pathogenesis. Similarly, genetic testing has greatly benefited melanoma diagnosis and treatment, primarily due to the high prevalence of BRAF hot spot mutations and other well-characterized genetic alterations. Additionally, NGS provides a valuable tool for measuring tumor mutational burden, which can aid in management of melanoma. Lastly, NGS demonstrates promise in improving the sensitivity of diagnosing cutaneous T-cell lymphoma. This article provides a comprehensive summary of NGS applications in the diagnosis and management of genodermatoses, cutaneous squamous cell carcinoma, melanoma, and cutaneous T-cell lymphoma, highlighting the impact of NGS on the field of dermatology.https://www.frontiersin.org/articles/10.3389/fmed.2023.1218404/fullnext-generation sequencingskin cancermelanomasquamous cell carcinomacutaneous lymphomagenodermatoses |
| spellingShingle | Andrew D. King Hany Deirawan Paytra A. Klein Bahar Dasgeb Catherine I. Dumur Darius R. Mehregan Next-generation sequencing in dermatology Frontiers in Medicine next-generation sequencing skin cancer melanoma squamous cell carcinoma cutaneous lymphoma genodermatoses |
| title | Next-generation sequencing in dermatology |
| title_full | Next-generation sequencing in dermatology |
| title_fullStr | Next-generation sequencing in dermatology |
| title_full_unstemmed | Next-generation sequencing in dermatology |
| title_short | Next-generation sequencing in dermatology |
| title_sort | next generation sequencing in dermatology |
| topic | next-generation sequencing skin cancer melanoma squamous cell carcinoma cutaneous lymphoma genodermatoses |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2023.1218404/full |
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