ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2020
Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- Novel, emerging and provisional renal entities: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- Clinicopathologic characterization of renal tumors with Folliculin (FLCN) biallelic inactivation.Virchows Archiv : an international journal of pathology · 2026Article
- GPR143, a novel immunohistochemical marker for renal tumors with FLCN/TSC/MTOR-TFE alterations.Virchows Archiv : an international journal of pathology · 2026Article
- Chromophobe renal cell carcinoma with nodal involvement: A rare case report highlighting unusual molecular features.Urology case reports · 2026Article
- A Mitochondrial Plasma Proteomic Signature Identifies Metastatic Chromophobe Renal Cell Carcinoma.Cancers · 2026Article
- Outcomes and Predictors of Recurrence and Survival in Surgically Resected Localized Chromophobe Renal Cell Carcinoma: Results from the Canadian Kidney Cancer Information System (CKCis).Current oncology (Toronto, Ont.) · 2026Article
- Pellino1-mTOR/S6K1 signaling axis is a key pathogenesis for the development of polycystic kidney disease.Cell death & disease · 2026Article
- Emerging Role of ctDNA Fragmentomics and Epigenetic Signatures in the Early Detection, Minimal Residual Disease Assessment, and Precision Monitoring of Renal Cell Carcinoma.Journal of cellular and molecular medicine · 2026Review
- Adjuvant therapy in chromophobe renal cell carcinoma: current evidence and unmet needs.Frontiers in oncology · 2026Review
- Molecular Drivers of Chromophobe Renal Cell Carcinoma Revealed Through Genomic Analysis Using AACR Project GENIE.Life (Basel, Switzerland) · 2025Article
- Genomic and Epigenomic Signatures Can Distinguish Aggressive Chromophobe Renal Cell Carcinoma from Indolent Renal Oncocytic Tumors in Clinical-grade Samples.European urology oncology · 2025Article
- Molecular and therapeutic landscape of non-clear cell renal carcinoma.Nature reviews. Urology · 2025Review
- BCL-xL dependency in chromophobe renal cell carcinoma.Cancer gene therapy · 2025Article
- Oncological Outcomes of Non-clear Cell Renal Cell Carcinomas: A Retrospective Study From a Tertiary Care Center.Cureus · 2025Article
- The molecular mechanism of NF-κB dysregulation across different subtypes of renal cell carcinoma.Journal of advanced research · 2025Review
- Clinical Outcomes and Targeted Genomic Analysis of Renal Cell Carcinoma Brain Metastases Treated with Stereotactic Radiosurgery.European urology oncology · 2025Article
- PTEN suppresses renal cell carcinoma proliferation and migration via inhibition of the PI3K/AKT pathway.World journal of surgical oncology · 2025Article
- Potential involvement of cuproptosis induced by m6A-modified autophagy gene ATG10 in KICH : Cuproptosis induced by m6A-modified ATG10 in KICH.BMC cancer · 2024Article
- Grading Challenges and Prognostic Insights in Chromophobe Renal Cell Carcinoma: A Retrospective Study of 72 Patients.Medicina (Kaunas, Lithuania) · 2024Article
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromophobe renal cell carcinoma (chRCC) is a histologically and molecularly distinct class of rare renal tumor. TCGA studies revealed low mutational burden, with only TP53 and PTEN recurrently mutated, and discovered alterations in TERT promoter and in the electron transport chain Complex I genes. However, knowledge on drug targetable genes is limited and treatments at metastatic stage do not follow a molecular rationale. In a large series of 92 chRCC enriched with metastatic cases, we performed an in-depth characterization of mTOR pathway alterations through targeted NGS and immunohistochemistry (IHC) of phospho-S6, tuberin, and PTEN. Mutations in mitochondria, telomere maintenance and other renal cancer related genes and p53 IHC, were also assessed. The impact on metastasis development and disease specific survival was determined, using TCGA-KICH series (n = 65) for validation. mTOR pathway mutations (MTOR, TSC1, TSC2) were present in 17% of primary tumors, most of them being classified as pathogenic. Mutations were associated with positive IHC staining of phospho-S6 and PTEN (P = 0.009 and P = 0.001, respectively) and with chRCC eosinophilic variant (P = 0.039), supporting a biological relevance of the pathway. mTOR pathway mutations were associated with worse clinical outcomes. Survival analysis gave a hazard ratio of 5.5 (P = 0.027), and this association was confirmed in TCGA-KICH (HR = 10.3, P = 0.006). TP53 mutations were enriched in metastatic cases (P = 0.018), and mutations in telomere maintenance genes showed a trend in the same direction. p53 IHC staining pattern was associated with the underlying TP53 defect, and negative PTEN IHC staining (82% of cases) suggested PTEN loss as a chRCC hallmark. In conclusion, our study provides with novel genomic knowledge in chRCC and identifies novel markers of poor survival. Furthermore, this is the first study showing that mTOR pathway mutations correlate with poor prognosis, and may help to identify patients with increased sensitivity to mTOR inhibitors.
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