Genetic and methylation analysis of CTNNB1 in benign and malignant melanocytic lesions
Melanocytic neoplasms have been genetically characterized in detail during the last decade. Recurrent CTNNB1 exon 3 mutations have been recognized in the distinct group of melanocytic tumors showing deep penetrating nevus-like morphology. In addition, they have been identified in 1-2% of advanced me...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
23 August 2022
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| In: |
Cancers
Year: 2022, Jahrgang: 14, Heft: 17, Pages: 1-18 |
| ISSN: | 2072-6694 |
| DOI: | 10.3390/cancers14174066 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3390/cancers14174066 Verlag, lizenzpflichtig, Volltext: https://www.mdpi.com/2072-6694/14/17/4066 
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| Verfasserangaben: | Anne Zaremba, Philipp Jansen, Rajmohan Murali, Anand Mayakonda, Anna Riedel, Dieter Krahl, Hans Burkhardt, Stefan John, Cyrill Géraud, Manuel Philip, Julia Kretz, Inga Möller, Nadine Stadtler, Antje Sucker, Annette Paschen, Selma Ugurel, Lisa Zimmer, Elisabeth Livingstone, Susanne Horn, Christoph Plass, Dirk Schadendorf, Eva Hadaschik, Pavlo Lutsik and Klaus Griewank |
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| 245 | 1 | 0 | |a Genetic and methylation analysis of CTNNB1 in benign and malignant melanocytic lesions |c Anne Zaremba, Philipp Jansen, Rajmohan Murali, Anand Mayakonda, Anna Riedel, Dieter Krahl, Hans Burkhardt, Stefan John, Cyrill Géraud, Manuel Philip, Julia Kretz, Inga Möller, Nadine Stadtler, Antje Sucker, Annette Paschen, Selma Ugurel, Lisa Zimmer, Elisabeth Livingstone, Susanne Horn, Christoph Plass, Dirk Schadendorf, Eva Hadaschik, Pavlo Lutsik and Klaus Griewank |
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| 520 | |a Melanocytic neoplasms have been genetically characterized in detail during the last decade. Recurrent CTNNB1 exon 3 mutations have been recognized in the distinct group of melanocytic tumors showing deep penetrating nevus-like morphology. In addition, they have been identified in 1-2% of advanced melanoma. Performing a detailed genetic analysis of difficult-to-classify nevi and melanomas with CTNNB1 mutations, we found that benign tumors (nevi) show characteristic morphological, genetic and epigenetic traits, which distinguish them from other nevi and melanoma. Malignant CTNNB1-mutant tumors (melanomas) demonstrated a different genetic profile, instead grouping clearly with other non-CTNNB1 melanomas in methylation assays. To further evaluate the role of CTNNB1 mutations in melanoma, we assessed a large cohort of clinically sequenced melanomas, identifying 38 tumors with CTNNB1 exon 3 mutations, including recurrent S45 (n = 13, 34%), G34 (n = 5, 13%), and S27 (n = 5, 13%) mutations. Locations and histological subtype of CTNNB1-mutated melanoma varied; none were reported as showing deep penetrating nevus-like morphology. The most frequent concurrent activating mutations were BRAF V600 (n = 21, 55%) and NRAS Q61 (n = 13, 34%). In our cohort, four of seven (58%) and one of nine (11%) patients treated with targeted therapy (BRAF and MEK Inhibitors) or immune-checkpoint therapy, respectively, showed disease control (partial response or stable disease). In summary, CTNNB1 mutations are associated with a unique melanocytic tumor type in benign tumors (nevi), which can be applied in a diagnostic setting. In advanced disease, no clear characteristics distinguishing CTNNB1-mutant from other melanomas were observed; however, studies of larger, optimally prospective, cohorts are warranted. | ||
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