Cargando…

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....

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
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
_version_ 1783748466280759296
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
work_keys_str_mv AT szymanskimichal succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT rusetskanatalia succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT jancewicziga succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT armatowskaalicja succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT ligajmarcin succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT chrzanalicja succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT hinczakinga succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT kowalikartur succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT mikapawel succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT kisielmaciej succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT zolnierekjakub succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT kosiorjoanna succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT demkowtomasz succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT siedleckijanusza succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT sarnowskitomaszj succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport
AT sarnowskaelzbieta succinatedehydrogenasedeficientrenalcancerfeaturingfructose16biphosphataselosspyruvatekinasem2overexpressionandswisnfchromatinremodelingcomplexaberrationsararecasereport