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Succinate Dehydrogenase‐Deficient Renal Cancer Featuring Fructose‐1,6‐Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI/SNF Chromatin Remodeling Complex Aberrations: A Rare Case Report
Succinate dehydrogenase (SDH)‐deficient renal cancer is a rare renal cancer subtype recently accepted by the World Health Organization as a unique subtype of renal cell carcinoma (RCC). Here we report a case of 17‐year‐old man. The detailed evaluation indicated occurrence of the SDHB‐deficient RCC....
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417867/ https://www.ncbi.nlm.nih.gov/pubmed/34003534 http://dx.doi.org/10.1002/onco.13825 |
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author | Szymanski, Michal Rusetska, Natalia Jancewicz, Iga Armatowska, Alicja Ligaj, Marcin Chrzan, Alicja Hincza, Kinga Kowalik, Artur Mika, Pawel Kisiel, Maciej Zolnierek, Jakub Kosior, Joanna Demkow, Tomasz Siedlecki, Janusz A. Sarnowski, Tomasz J. Sarnowska, Elzbieta |
author_facet | Szymanski, Michal Rusetska, Natalia Jancewicz, Iga Armatowska, Alicja Ligaj, Marcin Chrzan, Alicja Hincza, Kinga Kowalik, Artur Mika, Pawel Kisiel, Maciej Zolnierek, Jakub Kosior, Joanna Demkow, Tomasz Siedlecki, Janusz A. Sarnowski, Tomasz J. Sarnowska, Elzbieta |
author_sort | Szymanski, Michal |
collection | PubMed |
description | Succinate dehydrogenase (SDH)‐deficient renal cancer is a rare renal cancer subtype recently accepted by the World Health Organization as a unique subtype of renal cell carcinoma (RCC). Here we report a case of 17‐year‐old man. The detailed evaluation indicated occurrence of the SDHB‐deficient RCC. The genetic testing revealed no germline mutation in SDH genes. Immunohistochemistry showed SDHB deficiency, overexpression of pyruvate kinase M2 and dramatic downregulation of fructose‐1,6‐bisphosphatase metabolic enzymes, and unaltered levels of phosphorylated AMP‐activated protein kinase and mammalian target of rapamycin. Strong upregulation of INI1 and BRG1 and overexpression of BAF180, subunits of SWI/SNF ATP‐dependent chromatin remodeling complex, were also found. The identified tumor pathologically did not resemble clear cell renal cell carcinoma (ccRCC), but some metabolic alterations are common for both cancer types. Thus, we postulate that the phenotypical differences between ccRCC and SDHB‐deficient RCC may be related to distinct molecular and metabolic alterations. IMPLICATIONS FOR PRACTICE: Succinate dehydrogenase (SDH)‐deficient renal cell carcinoma (RCC) is a rare renal tumor occurring even in young patients. Until now, in all described and genetically tested cases, mutations and deletions in SDH genes have been found. This article describes SDHB‐deficient RCC without any germline mutations in SDH genes. Therefore, genetic analysis for germline mutations in SDH genes in SDH‐deficient RCC, especially in young individuals, should be strongly recommended, although as of now it is not obligatory. This knowledge will allow improvement of patient monitoring including both disease recurrence and new cancer appearance. |
format | Online Article Text |
id | pubmed-8417867 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-84178672021-09-08 Succinate Dehydrogenase‐Deficient Renal Cancer Featuring Fructose‐1,6‐Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI/SNF Chromatin Remodeling Complex Aberrations: A Rare Case Report Szymanski, Michal Rusetska, Natalia Jancewicz, Iga Armatowska, Alicja Ligaj, Marcin Chrzan, Alicja Hincza, Kinga Kowalik, Artur Mika, Pawel Kisiel, Maciej Zolnierek, Jakub Kosior, Joanna Demkow, Tomasz Siedlecki, Janusz A. Sarnowski, Tomasz J. Sarnowska, Elzbieta Oncologist Brief Communications Succinate dehydrogenase (SDH)‐deficient renal cancer is a rare renal cancer subtype recently accepted by the World Health Organization as a unique subtype of renal cell carcinoma (RCC). Here we report a case of 17‐year‐old man. The detailed evaluation indicated occurrence of the SDHB‐deficient RCC. The genetic testing revealed no germline mutation in SDH genes. Immunohistochemistry showed SDHB deficiency, overexpression of pyruvate kinase M2 and dramatic downregulation of fructose‐1,6‐bisphosphatase metabolic enzymes, and unaltered levels of phosphorylated AMP‐activated protein kinase and mammalian target of rapamycin. Strong upregulation of INI1 and BRG1 and overexpression of BAF180, subunits of SWI/SNF ATP‐dependent chromatin remodeling complex, were also found. The identified tumor pathologically did not resemble clear cell renal cell carcinoma (ccRCC), but some metabolic alterations are common for both cancer types. Thus, we postulate that the phenotypical differences between ccRCC and SDHB‐deficient RCC may be related to distinct molecular and metabolic alterations. IMPLICATIONS FOR PRACTICE: Succinate dehydrogenase (SDH)‐deficient renal cell carcinoma (RCC) is a rare renal tumor occurring even in young patients. Until now, in all described and genetically tested cases, mutations and deletions in SDH genes have been found. This article describes SDHB‐deficient RCC without any germline mutations in SDH genes. Therefore, genetic analysis for germline mutations in SDH genes in SDH‐deficient RCC, especially in young individuals, should be strongly recommended, although as of now it is not obligatory. This knowledge will allow improvement of patient monitoring including both disease recurrence and new cancer appearance. John Wiley & Sons, Inc. 2021-06-01 2021-09 /pmc/articles/PMC8417867/ /pubmed/34003534 http://dx.doi.org/10.1002/onco.13825 Text en © 2021 The Authors. The Oncologist published by Wiley Periodicals LLC on behalf of AlphaMed Press. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Brief Communications Szymanski, Michal Rusetska, Natalia Jancewicz, Iga Armatowska, Alicja Ligaj, Marcin Chrzan, Alicja Hincza, Kinga Kowalik, Artur Mika, Pawel Kisiel, Maciej Zolnierek, Jakub Kosior, Joanna Demkow, Tomasz Siedlecki, Janusz A. Sarnowski, Tomasz J. Sarnowska, Elzbieta Succinate Dehydrogenase‐Deficient Renal Cancer Featuring Fructose‐1,6‐Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI/SNF Chromatin Remodeling Complex Aberrations: A Rare Case Report |
title | Succinate Dehydrogenase‐Deficient Renal Cancer Featuring Fructose‐1,6‐Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI/SNF Chromatin Remodeling Complex Aberrations: A Rare Case Report |
title_full | Succinate Dehydrogenase‐Deficient Renal Cancer Featuring Fructose‐1,6‐Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI/SNF Chromatin Remodeling Complex Aberrations: A Rare Case Report |
title_fullStr | Succinate Dehydrogenase‐Deficient Renal Cancer Featuring Fructose‐1,6‐Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI/SNF Chromatin Remodeling Complex Aberrations: A Rare Case Report |
title_full_unstemmed | Succinate Dehydrogenase‐Deficient Renal Cancer Featuring Fructose‐1,6‐Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI/SNF Chromatin Remodeling Complex Aberrations: A Rare Case Report |
title_short | Succinate Dehydrogenase‐Deficient Renal Cancer Featuring Fructose‐1,6‐Biphosphatase Loss, Pyruvate Kinase M2 Overexpression, and SWI/SNF Chromatin Remodeling Complex Aberrations: A Rare Case Report |
title_sort | succinate dehydrogenase‐deficient renal cancer featuring fructose‐1,6‐biphosphatase loss, pyruvate kinase m2 overexpression, and swi/snf chromatin remodeling complex aberrations: a rare case report |
topic | Brief Communications |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417867/ https://www.ncbi.nlm.nih.gov/pubmed/34003534 http://dx.doi.org/10.1002/onco.13825 |
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