Melanoma-intrinsic activated β-catenin pathway, the product of the catenin beta 1 (CTNNB1) gene, has been associated with low/absent tumor-infiltrating lymphocytes, accelerated tumor growth, metastases development, and resistance to anti-PD-L1/anti-CTLA-4 agents in mouse melanoma models. | Karachaliou et al. BMC Cancer 2022 22 38 https s12885-021-08908-z RESEARCH Open Access The clinical significance of adenomatous polyposis coli APC and catenin Beta 1 CTNNB1 genetic aberrations in patients with melanoma Georgia Sofia Karachaliou1 Rached Alkallas2 Sarah B. Carroll1 Chongshan Caressi3 Danny Zakria4 Nirali M. Patel5 6 Dimitri G. Trembath5 Jennifer A. Ezzell7 Guillaume J. Pegna1 Paul B. Googe8 Jonathan P. Galeotti5 Fatih Ayvali1 Frances A. Collichio1 6 Carrie B. Lee1 6 David W. Ollila6 9 Margaret L. Gulley5 6 Douglas B. Johnson4 Kevin B. Kim3 Ian R. Watson2 and Stergios J. Moschos1 6 Abstract Background Melanoma-intrinsic activated β-catenin pathway the product of the catenin beta 1 CTNNB1 gene has been associated with low absent tumor-infiltrating lymphocytes accelerated tumor growth metastases development and resistance to anti-PD-L1 anti-CTLA-4 agents in mouse melanoma models. Little is known about the association between the adenomatous polyposis coli APC and CTNNB1 gene mutations in stage IV melanoma with immunotherapy response and overall survival OS . Methods We examined the prognostic significance of somatic APC CTNNB1 mutations in the Cancer Genome Atlas Project for Skin Cutaneous Melanoma TCGA-SKCM database. We assessed APC CTNNB1 mutations as predictors of response to immunotherapies in a clinicopathologically annotated metastatic patient cohort from three US melanoma centers. Correspondence moschos@ 1 Department of Medicine The University of North Carolina at Chapel Chapel Hill Chapel Hill NC USA 6 Lineberger Comprehensive Cancer Center The University of North Carolina at Chapel Hill Chapel Hill NC USA Full list of author information is available at the end of the article The Author s . 2022 Open Access This article is licensed under a Creative Commons Attribution International License which permits use sharing adaptation distribution and reproduction in any medium or format as long as you give appropriate .
