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Intratumoural heterogeneity may hinder precision medicine strategies in patients with clear cell renal cell carcinoma.
- Source :
-
Journal of clinical pathology [J Clin Pathol] 2018 May; Vol. 71 (5), pp. 467-471. Date of Electronic Publication: 2018 Jan 09. - Publication Year :
- 2018
-
Abstract
- Clear cell renal cell carcinoma (ccRCC) is an heterogeneous tumour at architectural, cellular and molecular level, a reason why the 2014 International Society of Urological Pathology consensus recommended wide sampling of RCC masses to include at least 1 block/cm of tumour together with perpendicular sections of the tumour/perinephric fat interface and the tumour/renal sinus interface. Intratumoural molecular heterogeneity may be a limitation at the moment of defining precision medicine strategies based on gene mutation status. This study analyses the presence of any mutation of KRAS, NRAS, BRAF, PIK3CA, ALK, ERBB2, DDR2, MAP2K1, RET and EGFR genes in 20 tissue blocks from a case of ccRCC and its metastasis. We observed the presence of the mutation at pH1047R of PIK3CA gene in five samples of the tumour, while the remaining 15 samples did not show any mutation at PIK3CA or any other investigated gene. There is a great need to develop novel RCC sampling strategies to overcome tumour heterogeneity prior to define precision oncology strategies.<br />Competing Interests: Competing interests: None declared.<br /> (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
- Subjects :
- Antineoplastic Agents therapeutic use
Carcinoma, Renal Cell secondary
Carcinoma, Renal Cell therapy
DNA Mutational Analysis
Genetic Predisposition to Disease
Humans
Kidney Neoplasms pathology
Kidney Neoplasms therapy
Male
Middle Aged
Molecular Targeted Therapy
Nephrectomy
Phenotype
Predictive Value of Tests
Biomarkers, Tumor genetics
Carcinoma, Renal Cell genetics
Genetic Heterogeneity
Kidney Neoplasms genetics
Mutation
Precision Medicine
Subjects
Details
- Language :
- English
- ISSN :
- 1472-4146
- Volume :
- 71
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of clinical pathology
- Publication Type :
- Academic Journal
- Accession number :
- 29317515
- Full Text :
- https://doi.org/10.1136/jclinpath-2017-204931