Clinicopathologic and molecular characterization of melanomas mutated for CTNNB1 and MAPK.
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.
['Oulès|Bénédicte|B|http://orcid.org/0000-0001-8269-4306', 'Mourah|Samia|S|http://orcid.org/0000-0002-9283-1068', 'Baroudjian|Barouyr|B|http://orcid.org/0000-0001-8234-6766', 'Jouenne|Fanélie|F|http://orcid.org/0000-0002-6706-7424', 'Delyon|Julie|J|http://orcid.org/0000-0002-4557-3377', 'Louveau|Baptiste|B|http://orcid.org/0000-0001-5411-3893', 'Gruber|Aurélia|A|', 'Lebbé|Céleste|C|http://orcid.org/0000-0002-5854-7290', 'Battistella|Maxime|M|http://orcid.org/0000-0002-7053-7431']
CTNNB1 mutation BRAF mutation Cutaneous melanoma Deep penetrating nevus NRAS mutation