Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases

Author:

Prochazkova Kristyna,Ptakova Nikola,Alaghehbandan Reza,Williamson Sean R.ORCID,Vaněček Tomáš,Vodicka JosefORCID,Treska Vladislav,Rogala JoannaORCID,Pivovarcikova Kristyna,Michalova Kvetoslava,Slisarenko Maryna,Hora Milan,Michal Michal,Hes Ondrej

Abstract

(1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. Such mutational changes may be responsible for suboptimal treatment outcomes in targeted therapy settings.

Funder

the Charles University Research Fund (Progres Q39), the grant of Ministry of Health of the Czech Republic – Conceptual Development of Research Organization

Publisher

MDPI AG

Subject

Cancer Research,Oncology

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