Autophagy defects and related genetic variations in renal cell carcinoma with eosinophilic cytoplasmic inclusions

Sci Rep. 2018 Jul 2;8(1):9972. doi: 10.1038/s41598-018-28369-y.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Autophagy / genetics*
  • Autophagy-Related Protein 5 / genetics
  • Autophagy-Related Proteins / genetics*
  • Autophagy-Related Proteins / metabolism
  • Beclin-1 / genetics
  • Beclin-1 / metabolism
  • Carcinoma, Renal Cell / genetics
  • Carcinoma, Renal Cell / pathology*
  • Eosinophils / pathology
  • Exome Sequencing
  • Female
  • Humans
  • Inclusion Bodies / metabolism
  • Inclusion Bodies / pathology*
  • Inclusion Bodies / ultrastructure
  • Kelch-Like ECH-Associated Protein 1 / genetics
  • Kelch-Like ECH-Associated Protein 1 / metabolism
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology*
  • Male
  • Middle Aged
  • Mutation
  • Polymorphism, Single Nucleotide

Substances

  • ATG5 protein, human
  • Autophagy-Related Protein 5
  • Autophagy-Related Proteins
  • BECN1 protein, human
  • Beclin-1
  • KEAP1 protein, human
  • Kelch-Like ECH-Associated Protein 1