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Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma

Thyroid-like follicular renal cell carcinoma (TLFRCC) is a rare cancer with few reports of metastatic disease. Little is known regarding genomic characteristics and therapeutic targets. We present the clinical, pathologic, genomic, and transcriptomic analyses of a case of a 27-yr-old male with TLFRC...

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Autores principales: Ko, Jenny J., Grewal, Jasleen K., Ng, Tony, Lavoie, Jean-Michel, Thibodeau, My Linh, Shen, Yaoqing, Mungall, Andrew J., Taylor, Greg, Schrader, Kasmintan A., Jones, Steven J.M., Kollmannsberger, Christian, Laskin, Janessa, Marra, Marco A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318773/
https://www.ncbi.nlm.nih.gov/pubmed/30446580
http://dx.doi.org/10.1101/mcs.a003137
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author Ko, Jenny J.
Grewal, Jasleen K.
Ng, Tony
Lavoie, Jean-Michel
Thibodeau, My Linh
Shen, Yaoqing
Mungall, Andrew J.
Taylor, Greg
Schrader, Kasmintan A.
Jones, Steven J.M.
Kollmannsberger, Christian
Laskin, Janessa
Marra, Marco A.
author_facet Ko, Jenny J.
Grewal, Jasleen K.
Ng, Tony
Lavoie, Jean-Michel
Thibodeau, My Linh
Shen, Yaoqing
Mungall, Andrew J.
Taylor, Greg
Schrader, Kasmintan A.
Jones, Steven J.M.
Kollmannsberger, Christian
Laskin, Janessa
Marra, Marco A.
author_sort Ko, Jenny J.
collection PubMed
description Thyroid-like follicular renal cell carcinoma (TLFRCC) is a rare cancer with few reports of metastatic disease. Little is known regarding genomic characteristics and therapeutic targets. We present the clinical, pathologic, genomic, and transcriptomic analyses of a case of a 27-yr-old male with TLFRCC who presented initially with bone metastases of unknown primary. Genomic DNA from peripheral blood and metastatic tumor samples were sequenced. A transcriptome of 280 million sequence reads was generated from the same tumor sample. Tumor somatic expression profiles were analyzed to detect aberrant expression. Genomic and transcriptomic data sets were integrated to reveal dysregulation in pathways and identify potential therapeutic targets. Integrative genomic analysis with The Cancer Genome Atlas (TCGA) data set revealed the following outliers in gene expression profiles: CDK6 (81st percentile), MYC (99th percentile), AR (100th percentile), PDGFRA and PDGFRB (99th and 100th percentiles, respectively), and MAP2K2 (86th percentile). The patient received first-line sunitinib to target PDGFRA and PDGFRB and had stable disease for >6 mo, followed by nivolumab upon progression. To the authors’ knowledge, this is the first reported case of comprehensive somatic genomic analyses in a patient with metastatic TLFRCC. Somatic analyses provided molecular confirmation of the primary site of cancer and potential therapeutic strategies in a rare disease with little evidence of efficacy on systemic therapy.
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spelling pubmed-63187732019-01-13 Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma Ko, Jenny J. Grewal, Jasleen K. Ng, Tony Lavoie, Jean-Michel Thibodeau, My Linh Shen, Yaoqing Mungall, Andrew J. Taylor, Greg Schrader, Kasmintan A. Jones, Steven J.M. Kollmannsberger, Christian Laskin, Janessa Marra, Marco A. Cold Spring Harb Mol Case Stud Research Report Thyroid-like follicular renal cell carcinoma (TLFRCC) is a rare cancer with few reports of metastatic disease. Little is known regarding genomic characteristics and therapeutic targets. We present the clinical, pathologic, genomic, and transcriptomic analyses of a case of a 27-yr-old male with TLFRCC who presented initially with bone metastases of unknown primary. Genomic DNA from peripheral blood and metastatic tumor samples were sequenced. A transcriptome of 280 million sequence reads was generated from the same tumor sample. Tumor somatic expression profiles were analyzed to detect aberrant expression. Genomic and transcriptomic data sets were integrated to reveal dysregulation in pathways and identify potential therapeutic targets. Integrative genomic analysis with The Cancer Genome Atlas (TCGA) data set revealed the following outliers in gene expression profiles: CDK6 (81st percentile), MYC (99th percentile), AR (100th percentile), PDGFRA and PDGFRB (99th and 100th percentiles, respectively), and MAP2K2 (86th percentile). The patient received first-line sunitinib to target PDGFRA and PDGFRB and had stable disease for >6 mo, followed by nivolumab upon progression. To the authors’ knowledge, this is the first reported case of comprehensive somatic genomic analyses in a patient with metastatic TLFRCC. Somatic analyses provided molecular confirmation of the primary site of cancer and potential therapeutic strategies in a rare disease with little evidence of efficacy on systemic therapy. Cold Spring Harbor Laboratory Press 2018-12 /pmc/articles/PMC6318773/ /pubmed/30446580 http://dx.doi.org/10.1101/mcs.a003137 Text en © 2018 Ko et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Research Report
Ko, Jenny J.
Grewal, Jasleen K.
Ng, Tony
Lavoie, Jean-Michel
Thibodeau, My Linh
Shen, Yaoqing
Mungall, Andrew J.
Taylor, Greg
Schrader, Kasmintan A.
Jones, Steven J.M.
Kollmannsberger, Christian
Laskin, Janessa
Marra, Marco A.
Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma
title Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma
title_full Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma
title_fullStr Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma
title_full_unstemmed Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma
title_short Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma
title_sort whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinoma
topic Research Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318773/
https://www.ncbi.nlm.nih.gov/pubmed/30446580
http://dx.doi.org/10.1101/mcs.a003137
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