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Liver cancer with concomitant TP53 and CTNNB1 mutations: a case report
Juliane Friemel1, Markus Rechsteiner2, Marion Bawohl2
1Institute of Surgical Pathology, University and University Hospital Zurich, Schmelzbergstrasse 12, 8091 Zurich, Switzerland ; Leibniz Institute for Prevention Research and Epidemiology (BIPS), Bremen, Germany.
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.
