Liver cancer with concomitant TP53 and CTNNB1 mutations: a case report. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Friemel, Juliane; Rechsteiner, Markus; Bawohl, Marion; Frick, Lukas; Müllhaupt, Beat; Lesurtel, Mickaël; Weber, Achim
• Is Part Of: BMC clinical pathology. Volume 16:Issue 1(2016)
• Page Start: 1
• Page End: 4
• Publication Date: 2016-12
• Subjects: Hepatocellular carcinoma (HCC) -- Intratumor heterogeneity -- CTNNB1 -- TP53 -- Next generation sequencing; Diagnosis, Laboratory -- Periodicals; Pathology, Clinical -- Periodicals; 616.0705
• DOI: 10.1186/s12907-016-0029-5
• Languages: English
• ISSNs: 1472-6890

Abstract

Abstract Background In the spectrum of molecular alterations found in hepatocellular carcinoma (HCC), somatic mutations in the WNT/β-catenin pathway and the p53/cell cycle control pathway are among the most frequent ones. It has been suggested that both mutations occur in a mutually exclusive manner and they are used as molecular classifiers in HCC classification proposals. Case presentation Here, we report the case of a treatment-naïve mixed hepatocellular/cholangiocellular carcinoma (HCC/CCC) with morphological and genetic intratumor heterogeneity. Within the predominant part of the tumor with hepatocellular differentiation, a p.D32V mutation in exon 3 of theCTNNB1 gene occurred concomitantly with aTP53 intron 7/exon 8 splice site mutation. Conclusion Intratumor heterogeneity challenges the concept ofCTNNB1 andTP53 gene mutations being mutually exclusive molecular classifiers in HCC, which has implications for HCC classification approaches.