scholarly journals 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

Cancers ◽  
2021 ◽  
Vol 13 (23) ◽  
pp. 5906
Author(s):  
Kristyna Prochazkova ◽  
Nikola Ptakova ◽  
Reza Alaghehbandan ◽  
Sean R. Williamson ◽  
Tomáš Vaněček ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Primary Tumor ◽  
Renal Cell ◽  
Clear Cell ◽  
Pulmonary Metastases ◽  
Published Data ◽  
Cell Renal Cell Carcinoma ◽  
Primary Tumors ◽  
Mutation Profile

(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.

scholarly journals MET Expression in Primary and Metastatic Clear Cell Renal Cell Carcinoma: Implications of Correlative Biomarker Assessment to MET Pathway Inhibitors

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Brian Shuch ◽  
Ryan Falbo ◽  
Fabio Parisi ◽  
Adebowale Adeniran ◽  
Yuval Kluger ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Predictive Biomarkers ◽  
Cell Renal Cell Carcinoma ◽  
Primary Tumors ◽  
Distant Tissue ◽  
Significant Expression ◽  
Metastatic Sites

Aims. Inhibitors of the MET pathway hold promise in the treatment for metastatic kidney cancer. Assessment of predictive biomarkers may be necessary for appropriate patient selection. Understanding MET expression in metastases and the correlation to the primary site is important, as distant tissue is not always available.Methods and Results. MET immunofluorescence was performed using automated quantitative analysis and a tissue microarray containing matched nephrectomy and distant metastatic sites from 34 patients with clear cell renal cell carcinoma. Correlations between MET expressions in matched primary and metastatic sites and the extent of heterogeneity were calculated. The mean expression of MET was not significantly different between primary tumors when compared to metastases (P=0.1). MET expression weakly correlated between primary and matched metastatic sites (R=0.5) and a number of cases exhibited very high levels of discordance between these tumors. Heterogeneity within nephrectomy specimens compared to the paired metastatic tissues was not significantly different (P=0.39).Conclusions. We found that MET expression is not significantly different in primary tumors than metastatic sites and only weakly correlates between matched sites. Moderate concordance of MET expression and significant expression heterogeneity may be a barrier to the development of predictive biomarkers using MET targeting agents.

Abstract 1693: Nicotinamide N-methyltransferase in clear cell renal cell carcinoma primary tumors and metastases

2016 ◽  
Author(s):  
Anna Reustle ◽  
Steffen Rausch ◽  
Stefan Winter ◽  
Florian Büttner ◽  
Stephan Kruck ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Cell Renal Cell Carcinoma ◽  
Primary Tumors

Outcomes for Patients after Resection of Pulmonary Metastases from Clear Cell Renal Cell Carcinoma: 18 Years of Experience

2019 ◽  
Vol 103 (3) ◽  
pp. 297-302
Author(s):  
Kristýna Procházková ◽  
Josef Vodička ◽  
Jakub Fichtl ◽  
Gabriela Krákorová ◽  
Jakub Šebek ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Pulmonary Metastases ◽  
Years Of Experience ◽  
Cell Renal Cell Carcinoma

scholarly journals BAP1 and PBRM1 in metastatic clear cell renal cell carcinoma: tumor heterogeneity and concordance with paired primary tumor

BMC Urology ◽  
2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Jeanette E. Eckel-Passow ◽  
Daniel J. Serie ◽  
John C. Cheville ◽  
Thai H. Ho ◽  
Payal Kapur ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Primary Tumor ◽  
Renal Cell ◽  
Tumor Heterogeneity ◽  
Clear Cell ◽  
Cell Renal Cell Carcinoma ◽  
Carcinoma Tumor

scholarly journals Prognostic Value of The Ratio of Maximum To Minimum Diameter of Primary Tumor In Metastatic Clear Cell Renal Cell Carcinoma

2022 ◽  
Author(s):  
Hongzhe Shi ◽  
Chuanzhen Cao ◽  
Li Wen ◽  
Lianyu Zhang ◽  
Jin Zhang ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Prognostic Factor ◽  
Cell Carcinoma ◽  
Risk Score ◽  
Primary Tumor ◽  
Renal Cell ◽  
Prognostic Value ◽  
Tumor Necrosis ◽  
Clear Cell ◽  
Cell Renal Cell Carcinoma

Abstract Background: Several models and markers were developed and found to predict outcome of advanced renal cell carcinoma. This study aimed to evaluate the prognostic value of the ratio of maximum to minimum tumor diameter (ROD) in metastatic clear cell renal cell carcinoma (mccRCC).Methods: Patients with mccRCC (n=213) treated with sunitinib from January 2008 to December 2018 were identified. Cut-off value for ROD was determined using receiver operating characteristic. Patients with different ROD scores were grouped and evaluated. Survival outcomes were estimated by Kaplan-Meier method.Results: The optimal ROD cutoff value of 1.34 was determined for progression free survival (PFS) and overall survival (OS). Patients in ROD≥1.34 group had shorter PFS (9.6 versus 17.7 months, p<0.001) and OS (25.5 versus 32.6 months, p<0.001) than patients in ROD<1.34 group. After adjustment for other factors, multivariate analysis showed ROD≥1.34 was an independent prognostic factor for PFS (p<0.001) and OS (p=0.006). Patients in ROD³1.34 group presented higher proportions of T3/4 stage (92.9% versus 7.1%, p=0.012), WHO/ISUP grade III/IV (72.0% versus 28.0%, p=0.010), tumor necrosis (71.0% versus 29.0%, p=0.039), sarcomatoid differentiation (79.1% versus 20.9%, p=0.007), poor MSKCC risk score (78.4% versus 21.6%, p<0.001) and poor IMDC risk score (74.4% versus 25.6%, p<0.001) than ROD<1.34 group.Conclusion: Primary tumor with higher ROD was an independently prognostic factor for both PFS and OS in patients with mccRCC who received targeted therapy. Higher ROD was also associated with high T stage, high WHO/ISUP grade, sarcomatoid features, tumor necrosis, poor MSKCC and IMDC risk score.

Clear cell renal cell carcinoma: a comparative study of histological and chromosomal characteristics between primary tumors and their corresponding metastases

2017 ◽  
Vol 471 (1) ◽  
pp. 107-115 ◽  
Author(s):  
Julien Dagher ◽  
Solène-Florence Kammerer-Jacquet ◽  
Frédéric Dugay ◽  
Marion Beaumont ◽  
Alexandra Lespagnol ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Comparative Study ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Cell Renal Cell Carcinoma ◽  
Primary Tumors

MicroRNAs with Prognostic Potential for Metastasis in Clear Cell Renal Cell Carcinoma: A Comparison of Primary Tumors and Distant Metastases

2013 ◽  
Vol 21 (3) ◽  
pp. 1046-1054 ◽  
Author(s):  
Joana Heinzelmann ◽  
André Unrein ◽  
Ulrike Wickmann ◽  
Sophie Baumgart ◽  
Marcus Stapf ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Distant Metastases ◽  
Cell Renal Cell Carcinoma ◽  
Primary Tumors

The genomic landscape of metastatic non-clear cell renal cell carcinoma.

2017 ◽  
Vol 35 (6_suppl) ◽  
pp. 474-474 ◽  
Author(s):  
Maria Isabel Carlo ◽  
Nabeela Khan ◽  
Yingbei Chen ◽  
James Hsieh ◽  
A. Ari Hakimi ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Mtor Inhibitors ◽  
Driver Gene ◽  
Cell Renal Cell Carcinoma ◽  
Primary Tumors ◽  
Targeted Next Generation Sequencing ◽  
Metastatic Sites

474 Background: Non-clear cell renal cell carcinoma (nccRCC) encompasses about 20% of RCC cases and includes a number of subtypes that vary clinically and molecularly. Compared to ccRCC, these tumors have more limited sensitivity to conventional anti-VEGF agents and mTOR inhibitors, and there is clear need for better therapies. Analysis of genomic alterations in potentially targetable pathways may lead to novel therapeutic development strategies. Methods: We retrospectively analyzed tumors from 112 patients with metastatic nccRCC with targeted next-generation sequencing (NGS) across a panel of >340 cancer-relevant genes. Matched tumor and normal was used to facilitate somatic calling. We report on recurrent alterations observed for nccRCC variants. Results: Median age was 53 years (range 12-77), 67% were male; 47% presented with metastatic disease and 53% with localized disease that later metastasized. NGS was performed on tissue from primary tumors (57%) or metastatic sites (43%). Subtype classifications included unclassified (44%), papillary (21%), chromophobe (13%), translocation (12%), and other (9%). The most frequently altered genes by subtype are included in table. 36% of unclassified or papillary tumors had a mutation in a putative driver gene amenable to targeted therapies, including MET, NOTCH1, SMARCB1, TSC1, TSC2, PIK3CA, and FGFR3. 3 chromophobe tumors and 1 translocation tumor had a mutation in a potentially targetable pathway. Conclusions: The mutation profiles of metastatic nccRCC vary by papillary, chromophobe, and translocation subtype, with unclassified tumors most approximating papillary subtype. Unclassified and papillary subtypes harbor frequent mutations in potentially targetable pathways that merit further investigation. [Table: see text]

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