Diagnostic Algorithm to Subclassify Atypical Spitzoid Tumors in Low and High Risk According to Their Methylation Status Article Swipe

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José González , Beatriz Sánchez‐Sendra , Carlos Monteagudo ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.3390/ijms25010318

Current diagnostic algorithms are insufficient for the optimal clinical and therapeutic management of cutaneous spitzoid tumors, particularly atypical spitzoid tumors (AST). Therefore, it is crucial to identify new markers that allow for reliable and reproducible diagnostic assessment and can also be used as a predictive tool to anticipate the individual malignant potential of each patient, leading to tailored individual therapy. Using Reduced Representation Bisulfite Sequencing (RRBS), we studied genome–wide methylation profiles of a series of Spitz nevi (SN), spitzoid melanoma (SM), and AST. We established a diagnostic algorithm based on the methylation status of seven cg sites located in TETK4P2 (Tektin 4 Pseudogene 2), MYO1D (Myosin ID), and PMF1-BGLAP (PMF1-BGLAP Readthrough), which allows the distinction between SN and SM but is also capable of subclassifying AST according to their similarity to the methylation levels of Spitz nevi or spitzoid melanoma. Thus, our epigenetic algorithm can predict the risk level of AST and predict its potential clinical outcomes.

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Methylation Algorithm Bisulfite Pseudogene DNA methylation Melanoma Epigenetics Biology Bioinformatics Medicine Cancer research Genetics Computer science Genome Gene Gene expression

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Type: article
Language: en
Landing Page: https://doi.org/10.3390/ijms25010318
PDF: https://www.mdpi.com/1422-0067/25/1/318/pdf?version=1703638023
OA Status: gold
References: 56
Related Works: 10
OpenAlex ID: https://openalex.org/W4390231604

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DOI: https://doi.org/10.3390/ijms25010318

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Title: Diagnostic Algorithm to Subclassify Atypical Spitzoid Tumors in Low and High Risk According to Their Methylation Status

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Language: en

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Publication year: 2023

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Publication date: 2023-12-25

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Authors: José González, Beatriz Sánchez‐Sendra, Carlos Monteagudo

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Landing page: https://doi.org/10.3390/ijms25010318

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Concepts: Methylation, Algorithm, Bisulfite, Pseudogene, DNA methylation, Melanoma, Epigenetics, Biology, Bioinformatics, Medicine, Cancer research, Genetics, Computer science, Genome, Gene, Gene expression

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