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. 2022 Feb;480(2):475-480.
doi: 10.1007/s00428-021-03119-0. Epub 2021 May 20.

Clinicopathologic and molecular characterization of melanomas mutated for CTNNB1 and MAPK

Bénédicte Oulès  1   2   3 , Samia Mourah  4   5 , Barouyr Baroudjian  1 , Fanélie Jouenne  4   5 , Julie Delyon  1   5 , Baptiste Louveau  4   5 , Aurélia Gruber  4   5 , Céleste Lebbé  1   5 , Maxime Battistella  6   7
Affiliations

Clinicopathologic and molecular characterization of melanomas mutated for CTNNB1 and MAPK

Bénédicte Oulès et al. Virchows Arch. 2022 Feb.

Abstract

Wnt/β-catenin signaling plays crucial roles in melanocyte biology and may be implicated in melanoma progression. In this study, we retrospectively examined a real-life cohort of melanomas mutated for β-catenin (CTNNB1), in association or not with a MAPK mutation (of BRAF or NRAS), and analyzed their clinical, histopathological, and molecular characteristics. Our results indicate that, regardless of the presence of a concurrent MAPK mutation, CTNNB1mut cutaneous primary melanomas display more proliferative hallmarks (increased Breslow thickness, mitotic index, and ulceration) than their CTNNB1 wild-type counterparts. Accordingly, they often progress to the metastatic stage. Furthermore, concurrent CTNNB1 and MAPK mutations do not necessarily confer a deep penetrating nevi phenotype. Altogether, this study provides evidence that CTNNB1 mutations in melanomas are associated with specific clinical and pathological features.

Keywords: BRAF mutation; CTNNB1 mutation; Cutaneous melanoma; Deep penetrating nevus; NRAS mutation.

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