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Cancers
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Pathology of Renal Tumors
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Pathology of Renal Tumors

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Pathophysiology".

Deadline for manuscript submissions: 30 November 2026 | Viewed by 925

Special Issue Editors

Prof. Dr. Guido Martignoni

E-Mail Website
Guest Editor
Department of Diagnostic and Public Health, University of Verona, Ospedale Pederzoli, Peschiera del Garda, Verona, Italy
Interests: renal cell carcinoma; FISH; cathepsin K; PEComa; immunohistochemistry
Dr. Anna Caliò

E-Mail Website
Guest Editor
Department of Diagnostics and Public Health, University of Verona, Verona, Italy
Interests: translocation renal cell carcinoma; FISH; cathepsin K; PEComa; immunohistochemistry

Special Issue Information

Dear Colleagues,

Recent research has greatly expanded our understanding of the pathological features of renal tumors, particularly at the molecular and metabolomic levels. Genomic studies have refined tumor classification, and the latest edition of the World Health Organization now recognizes several new renal tumor entities defined by characteristic genetic alterations, for instance, tumors with SDH or FH deficiency, or those with rearrangements involving TFE3/TFEB or ALK.

At the molecular level, mutations in chromatin-modifying genes (such as SETD2, BAP1, and KDM5C) disrupt histone modifications, leading to genomic instability and impaired DNA repair. These changes contribute to malignant transformation and progression in many renal cancers. In addition, the mTOR pathway has been found to be altered in a subset of renal tumors, promoting cellular metabolism, angiogenesis, and proliferation.

Metabolomic profiling has further revealed consistent alterations in amino-acid, energy, sugar, and nucleotide metabolism, reinforcing the concept that renal tumors may be viewed as a “metabolic disease.” These metabolic shifts may serve as non-invasive biomarkers and help elucidate tumor behaviors such as aggressiveness, immune evasion, and therapy response.

In light of this evolving landscape, this Special Issue of Cancers aims to explore how molecular and metabolomic insights can enhance the classification, diagnosis, and potential treatment of renal cell tumors. We welcome original research articles and comprehensive reviews that critically analyze these topics and further advance our understanding of renal cell tumors.

Prof. Dr. Guido Martignoni
Dr. Anna Caliò
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • renal cell tumors
  • diagnosis
  • prognosis
  • metabolomics
  • genomics
  • molecular
  • immunohistochemistry
  • histopathology

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Published Papers (1 paper)

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Research

17 pages, 14536 KB  
Article
A FISH-Based Three-Tier Classification of Chromosome 3 Alterations in Clear Cell Renal Cell Carcinoma: Diagnostic and Prognostic Implications Utility
by Shijie Deng, Tong Ye, Lei Zhang, Luting Zhou, Yang Liu, Yuehao Che, Lei Dong, Chaofu Wang and Xiaoqun Yang
Cancers 2026, 18(9), 1460; https://doi.org/10.3390/cancers18091460 - 1 May 2026
Viewed by 635
Abstract
Background: Clear cell renal cell carcinoma (CCRCC) is the predominant subtype of renal cell carcinoma and is characterized by frequent chromosome 3 alterations, including 3p deletion, monosomy, and aneuploidy. However, the absence of standardized fluorescence in situ hybridization (FISH) cut-off values has led [...] Read more.
Background: Clear cell renal cell carcinoma (CCRCC) is the predominant subtype of renal cell carcinoma and is characterized by frequent chromosome 3 alterations, including 3p deletion, monosomy, and aneuploidy. However, the absence of standardized fluorescence in situ hybridization (FISH) cut-off values has led to inconsistent reported frequencies and limited clinical integration of this accessible assay. This study aimed to establish clinically applicable cut-off values, propose a practical three-tier classification, and evaluate its diagnostic accuracy and clinicomolecular correlation with tumor aggressiveness. Methods: FISH using VHL (3p25.3) and CEP3 probes was performed on 1748 RCC cases (1655 CCRCC, 48 papillary RCC, 45 chromophobe RCC). Cut-off values were determined by combining ROC analysis with Youden’s index and the mean + 3SD method from normal renal tubular cells. A paired cohort of 97 CCRCC cases with targeted next-generation sequencing was stratified into three subgroups (3p intact, isolated 3p loss, broad chr3 change) for clinicomolecular comparison, including 3D principal component analysis. Results: Clinically applicable thresholds of 30% for 3p deletion and 20% for monosomy identified chromosome 3 alterations in 76.9% of CCRCC cases. The combination of both markers achieved superior diagnostic accuracy (AUC = 0.82). Aneuploidy was significantly associated with higher WHO/ISUP grade (p < 0.001) and older age (p = 0.006). The three-tier classification showed stepwise progression of aggressive features (older age, higher grade, larger tumor size) and increasing PBRM1 mutation frequency from the 3p intact to the broad chr3 change group. Conclusions: This study establishes standardized FISH cut-offs and a practical three-tier classification that captures a continuous spectrum of genomic instability and tumor aggressiveness in CCRCC. Routine 3p FISH provides a simple, cost-effective, and reproducible tool with substantial diagnostic and stratification value that complements more complex genomic profiling. Full article
(This article belongs to the Special Issue Pathology of Renal Tumors)
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