Liver cancer with concomitant TP53 and CTNNB1 mutations: a case report

BMC Clin Pathol. 2016 Jun 1;16:7. doi: 10.1186/s12907-016-0029-5. eCollection 2016.


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 the CTNNB1 gene occurred concomitantly with a TP53 intron 7/exon 8 splice site mutation.

Conclusion: Intratumor heterogeneity challenges the concept of CTNNB1 and TP53 gene mutations being mutually exclusive molecular classifiers in HCC, which has implications for HCC classification approaches.

Keywords: CTNNB1; Hepatocellular carcinoma (HCC); Intratumor heterogeneity; Next generation sequencing; TP53.

Publication types

  • Case Reports