Review of prognostic and predictive aspects of mutated TP53 in Wilms’ tumor biology with morphological report and molecular analysis of 37-year-old man’s nephroblastoma

Abstract

Here we review prognostic and predictive aspects of mutated TP53 in Wilms’ tumor biology on the basis of the morphological report and molecular analysis of adult nephroblastoma (diffuse blastemal pattern) of a 37-year-old man. Among quite different proteins, TP53 affects expression of several genes such as hypoxia inducible proteins GLUT1 and EPO as well as multidrug resistance (MDR) mediated by P-glycoprotein (Pgp/MDR1) and multidrug-resistant related protein (MRP1), with certain clinical implications. TP53 mutation was found both in our primary tumor (c.746G>T p.R249M frequency 92%) and in nodal metastasis (c.746G>T p.R249M frequency 90%), and the common polymorphism p.P72R in the same gene was revealed with frequency of about 97% in both primary tumor and metastatic disease with appliance of NGS technology (IonTorrent – LifeTechnology) using Ion AmpliSeq Cancer Hotspot Panel v2.

Keywords

• nephroblastoma
• histopathological typing
• staging
• TP53 mutation