Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions
Abstract The relationship between autophagy and tumour is well studied, but tumour cell morphological changes associated with autophagy defects are rarely reported, especially in renal cell carcinoma (RCC). We collected 10 renal tumour samples with characteristic eosinophilic cytoplasmic inclusions...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Nature Portfolio
2018
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/76faecfb92fc47dbb9ff89c93a75cecc |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:76faecfb92fc47dbb9ff89c93a75cecc |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:76faecfb92fc47dbb9ff89c93a75cecc2021-12-02T15:08:25ZAutophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions10.1038/s41598-018-28369-y2045-2322https://doaj.org/article/76faecfb92fc47dbb9ff89c93a75cecc2018-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-28369-yhttps://doaj.org/toc/2045-2322Abstract The relationship between autophagy and tumour is well studied, but tumour cell morphological changes associated with autophagy defects are rarely reported, especially in renal cell carcinoma (RCC). We collected 10 renal tumour samples with characteristic eosinophilic cytoplasmic inclusions (ECIs) and found that the ECIs were majorly composed of sequestosome 1/P62, neighbor of BRCA1 gene 1 (NBR1), PEX14, and CATALASE1 (CAT1). Further, transmission electron microscopy analysis revealed that ECIs were aggregates of proteinaceous material and peroxisomes. These results confirmed that ECIs in RCCs were the products of autophagy defects. The presence of ECIs was correlated with high Fuhrman grade components of RCCs. Whole-exome sequencing (WES) and Sanger sequencing confirmed that tumours with ECIs showed somatic mutations or high frequency of genetic variations in autophagy-related (ATG) genes, such as ATG7, ATG5, and ATG10. These results indicate that nucleotide changes in ATG genes are associated with autophagy defect, ECI formation, and even tumour grade in RCCs.Zhou YuJing MaXia LiYixiong LiuMingyang LiLu WangMing ZhaoHuiying HeYifen ZhangQiu RaoDanhui ZhaoYingmei WangLinni FanPeifeng LiYang LiuFang LiuFeng ZhangJing YeQingguo YanShuangping GuoZhe WangNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-12 (2018) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Zhou Yu Jing Ma Xia Li Yixiong Liu Mingyang Li Lu Wang Ming Zhao Huiying He Yifen Zhang Qiu Rao Danhui Zhao Yingmei Wang Linni Fan Peifeng Li Yang Liu Fang Liu Feng Zhang Jing Ye Qingguo Yan Shuangping Guo Zhe Wang Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions |
| description |
Abstract The relationship between autophagy and tumour is well studied, but tumour cell morphological changes associated with autophagy defects are rarely reported, especially in renal cell carcinoma (RCC). We collected 10 renal tumour samples with characteristic eosinophilic cytoplasmic inclusions (ECIs) and found that the ECIs were majorly composed of sequestosome 1/P62, neighbor of BRCA1 gene 1 (NBR1), PEX14, and CATALASE1 (CAT1). Further, transmission electron microscopy analysis revealed that ECIs were aggregates of proteinaceous material and peroxisomes. These results confirmed that ECIs in RCCs were the products of autophagy defects. The presence of ECIs was correlated with high Fuhrman grade components of RCCs. Whole-exome sequencing (WES) and Sanger sequencing confirmed that tumours with ECIs showed somatic mutations or high frequency of genetic variations in autophagy-related (ATG) genes, such as ATG7, ATG5, and ATG10. These results indicate that nucleotide changes in ATG genes are associated with autophagy defect, ECI formation, and even tumour grade in RCCs. |
| format |
article |
| author |
Zhou Yu Jing Ma Xia Li Yixiong Liu Mingyang Li Lu Wang Ming Zhao Huiying He Yifen Zhang Qiu Rao Danhui Zhao Yingmei Wang Linni Fan Peifeng Li Yang Liu Fang Liu Feng Zhang Jing Ye Qingguo Yan Shuangping Guo Zhe Wang |
| author_facet |
Zhou Yu Jing Ma Xia Li Yixiong Liu Mingyang Li Lu Wang Ming Zhao Huiying He Yifen Zhang Qiu Rao Danhui Zhao Yingmei Wang Linni Fan Peifeng Li Yang Liu Fang Liu Feng Zhang Jing Ye Qingguo Yan Shuangping Guo Zhe Wang |
| author_sort |
Zhou Yu |
| title |
Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions |
| title_short |
Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions |
| title_full |
Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions |
| title_fullStr |
Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions |
| title_full_unstemmed |
Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions |
| title_sort |
autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/76faecfb92fc47dbb9ff89c93a75cecc |
| work_keys_str_mv |
AT zhouyu autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT jingma autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT xiali autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT yixiongliu autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT mingyangli autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT luwang autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT mingzhao autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT huiyinghe autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT yifenzhang autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT qiurao autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT danhuizhao autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT yingmeiwang autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT linnifan autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT peifengli autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT yangliu autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT fangliu autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT fengzhang autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT jingye autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT qingguoyan autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT shuangpingguo autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions AT zhewang autophagydefectsandrelatedgeneticvariationsinrenalcellcarcinomawitheosinophiliccytoplasmicinclusions |
| _version_ |
1718388128837795840 |