Re: Next-Generation RNA Sequencing–Based Biomarker Characterization of Chromophobe Renal Cell Carcinoma and Related Oncocytic Neoplasms

2020 ◽  
Vol 204 (6) ◽  
pp. 1376-1376
Author(s):  
M. Pilar Laguna
2020 ◽  
Vol 78 (1) ◽  
pp. 63-74 ◽  
Author(s):  
Stephanie L. Skala ◽  
Xiaoming Wang ◽  
Yuping Zhang ◽  
Rahul Mannan ◽  
Lisha Wang ◽  
...  

2018 ◽  
Vol 188 (4) ◽  
pp. 846-852 ◽  
Author(s):  
Qingqing Liu ◽  
Kristine M. Cornejo ◽  
Liang Cheng ◽  
Lloyd Hutchinson ◽  
Mingsheng Wang ◽  
...  

2016 ◽  
Vol 34 (2_suppl) ◽  
pp. 513-513 ◽  
Author(s):  
Jozefina Casuscelli ◽  
Patricia Wang ◽  
Almedina Redzematovic ◽  
William Lee ◽  
Venkatraman E. Seshan ◽  
...  

513 Background: Chromophobe renal cell carcinoma (chRCC) is the third most common histologic subtype of kidney cancer. While most of these tumors have an indolent behavior, 7% of patients with chRCC develop metastases, with no currently available standard of care. The Cancer Genome Atlas characterized chRCC, highlighting pathognomonic single copy chromosomal losses of 1, 2, 6, 10, 13 and 17, as well as a minimal mutation burden distinguishing it from all other cancer types. However, only 15% of the analyzed patients had advanced disease. We analyzed metastatic chRCC to further characterize these tumors and elucidate mechanisms leading to aggressive disease using a variety of next generation and whole genome sequencing. Methods: Our cohort of metastatic chRCC consisted of 40 patients with available clinical and pathologic data. Whole genome sequencing (WGS) was performed on 6 patients (4 primary tumors and 2 metastases), 42 additional samples from 33 patients were analyzed using targeted next-generation sequencing (MSK-IMPACT). Notably, we were able to collect and analyze matched primary and metastatic tumors from 7 patients. As control cohort 27 non-metastatic chRCC tumors were sequenced with MSK-IMPACT. Copy number patterns were computed with OncoSNP seq and FACETS. Results: The most commonly mutated genes in the aggressive chRCC tumors were TP53 and PTEN (WGS: TP53 67 %, PTEN 33%; MSK-IMPACT: TP53 61%, PTEN 27%). No other genes were mutated frequently. Primary tumor samples of chRCC did show the typical pattern of chromosomal losses in 1, 2, 6, 10, 13 and 17. Interestingly, these canonical losses could not be detected in the metastases even when accounting for tumor purity. Conclusions: TP53 and PTEN mutations are highly enriched in both primary and metastatic tumors of aggressive chRCC compared to the non-aggressive tumors and likely play a critical role in disease progression. More intriguingly, the observation of differential copy numbers in matched primary and metastatic tumors suggest whole genome or whole chromosome events in these samples. We are currently employing different bioinformatic and cytogenetic platforms to validate our novel hypothesis of chromosomal events as driver for metastatic development in chRCC.


2020 ◽  
Vol 33 (12) ◽  
pp. 2580-2590
Author(s):  
Juan María Roldan-Romero ◽  
María Santos ◽  
Javier Lanillos ◽  
Eduardo Caleiras ◽  
Georgia Anguera ◽  
...  

2017 ◽  
Vol 56 (10) ◽  
pp. 719-729 ◽  
Author(s):  
Youfeng Yang ◽  
Cathy D. Vocke ◽  
Christopher J. Ricketts ◽  
Darmood Wei ◽  
Hesed M. Padilla-Nash ◽  
...  

2014 ◽  
Vol 9 (1) ◽  
pp. 32-43 ◽  
Author(s):  
Gabriel G. Malouf ◽  
Jianping Zhang ◽  
Ying Yuan ◽  
Eva Compérat ◽  
Morgan Rouprêt ◽  
...  

2016 ◽  
Vol 50 (6) ◽  
pp. 452-462 ◽  
Author(s):  
Oystein S. Eikrem ◽  
Philipp Strauss ◽  
Christian Beisland ◽  
Andreas Scherer ◽  
Lea Landolt ◽  
...  

2021 ◽  
Vol 219 ◽  
pp. 153350
Author(s):  
Veronica Mollica ◽  
Tania Franceschini ◽  
Elisa Gruppioni ◽  
Alessandro Rizzo ◽  
Costantino Ricci ◽  
...  

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