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Zaremba, Anne [Author]; Jansen, Philipp [Author]; Murali, Rajmohan [Author]; Mayakonda, Anand [Author]; Riedel, Anna [Author]; Krahl, Dieter [Author]; Burkhardt, Hans [Author]; John, Stefan [Author]; Géraud, Cyrill [Author]; Philip, Manuel [Author]; Kretz, Julia [Author]; Möller, Inga [Author]; Stadtler, Nadine [Author]; Sucker, Antje [Author]; Paschen, Annette [Author]; Ugurel, Selma [Author]; Zimmer, Lisa [Author]; Livingstone, Elisabeth [Author]; Horn, Susanne [Author]; Plass, Christoph [Author]; Schadendorf, Dirk [Author]; Hadaschik, Eva [Author]; Lutsik, Pavlo [Author]; Griewank, Klaus [Author]

Genetic and Methylation Analysis of CTNNB1 in Benign and Malignant Melanocytic Lesions

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  • Media type: E-Article
  • Title: Genetic and Methylation Analysis of CTNNB1 in Benign and Malignant Melanocytic Lesions
  • Contributor: Zaremba, Anne [Author]; Jansen, Philipp [Author]; Murali, Rajmohan [Author]; Mayakonda, Anand [Author]; Riedel, Anna [Author]; Krahl, Dieter [Author]; Burkhardt, Hans [Author]; John, Stefan [Author]; Géraud, Cyrill [Author]; Philip, Manuel [Author]; Kretz, Julia [Author]; Möller, Inga [Author]; Stadtler, Nadine [Author]; Sucker, Antje [Author]; Paschen, Annette [Author]; Ugurel, Selma [Author]; Zimmer, Lisa [Author]; Livingstone, Elisabeth [Author]; Horn, Susanne [Author]; Plass, Christoph [Author]; Schadendorf, Dirk [Author]; Hadaschik, Eva [Author]; Lutsik, Pavlo [Author]; Griewank, Klaus [Author]
  • Published: Basel: MDPI, [2023]
  • Published in: Cancers ; 14,4066 (2022), Seite 1-28
  • Language: English
  • DOI: 10.3390/cancers14174066
  • Keywords: malignant melanoma ; mutation profiling ; deep penetrating nevus ; immune checkpoint inhibition ; deep penetrating melanoma
  • Origination:
  • Footnote:
  • Description: 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 melanocytictumors showing deep penetrating nevus-like morphology. In addition, they have been identifiedin 1–2% of advanced melanoma. Performing a detailed genetic analysis of difficult-to-classify neviand melanomas with CTNNB1 mutations, we found that benign tumors (nevi) show characteristic morphological, genetic and epigenetic traits, which distinguish them from other nevi andmelanoma. Malignant CTNNB1-mutant tumors (melanomas) demonstrated a different genetic profile,instead grouping clearly with other non-CTNNB1 melanomas in methylation assays. To furtherevaluate 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 ofCTNNB1-mutated melanoma varied; none were reported as showing deep penetrating nevus-likemorphology. The most frequent concurrent activating mutations were BRAF V600 (n = 21, 55%) andNRAS 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, showeddisease control (partial response or stable disease). In summary, CTNNB1 mutations are associatedwith a unique melanocytic tumor type in benign tumors (nevi), which can be applied in a diagnosticsetting. In advanced disease, no clear characteristics distinguishing CTNNB1-mutant from othermelanomas were observed; however, studies of larger, optimally prospective, cohorts are warranted.
  • Access State: Open Access
  • Rights information: Attribution (CC BY)