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Novel Diagnostic and Predictive Strategies in Renal Cell Tumors

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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 December 2020) | Viewed by 22662

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Special Issue Editor

Dr. Michelangelo Fiorentino

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Guest Editor

Pathology Unit, Maggiore Hospital, Alma Mater Studiorum, University of Bologna, Via dell’Ospedale 8, 40133 Bologna, Italy
Interests: pathology and molecular pathology of genito-urinary cancer (prostate, kidney, bladder, testis, penile)

Special Issue Information

Renal cell tumors comprise a heterogeneous family of neoplasia with different morphological, phenotypic, and genotypic traits. In the past decade, several new histological entities have been identified on the basis of molecular rather than histological features. Tumors sharing the same morphology often display a different biological behavior, leading to a diagnostic conflict between phenotypic and genotypic characteristics. Therapy of advanced renal cell cancer is evolving from anti-angiogenic agents and tyrosine kinase inhibitors to immunotherapies. However, robust predictive biomarkers of response to targeted therapies are still lacking. In the current era of wide genome analyses and artificial intelligence, novel diagnostic strategies are needed to help to identify these new tumor entities and to predict their biological behavior and response to therapy in advanced cases.This Special Issue is dedicated to answering single diagnostic and biological unsolved questions in renal cell tumors from different professional perspectives, with a multidisciplinary approach.

Dr. Michelangelo Fiorentino
Guest Editor

Manuscript Submission Information

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Keywords

Renal cell tumors
Molecular pathology
Artificial intelligence
Biomarkers

Published Papers (6 papers)

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Research

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14 pages, 5132 KiB

Open AccessArticle

Clinical Implications of (Pro)renin Receptor (PRR) Expression in Renal Tumours

by Jon Danel Solano-Iturri, Enrique Echevarría, Miguel Unda, Ana Loizaga-Iriarte, Amparo Pérez-Fernández, Javier C. Angulo, José I. López and Gorka Larrinaga

Diagnostics 2021, 11(2), 272; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11020272 - 10 Feb 2021

Cited by 6 | Viewed by 2008

Abstract

(1) Background: Renal cancer is one of the most frequent malignancies in Western countries, with an unpredictable clinical outcome, partly due to its high heterogeneity and the scarcity of reliable biomarkers of tumour progression. (Pro)renin receptor (PRR) is a novel receptor of the renin–angiotensin system (RAS) that has been associated with the development and progression of some solid tumours by RAS-dependent and -independent mechanisms. (2) Methods: In this study, we analysed the immunohistochemical expression of PRR at the centre and border in a series of 83 clear-cell renal cell (CCRCCs), 19 papillary (PRCC) and 7 chromophobe (ChRCC) renal cell carcinomas, and the benign tumour renal oncocytoma (RO, n = 11). (3) Results: PRR is expressed in all the tumour subtypes, with higher mean staining intensity in ChRCCs and ROs. A high expression of PRR at the tumour centre and at the infiltrative front of CCRCC tissues is significantly associated with high grade, tumour diameter, local invasion and stage, and with high mortality risk by UCLA integrated staging system (UISS) scale. (4) Conclusions: These findings indicate that PRR is associated with the development and progression of renal tumours. Its potential as a novel biomarker for RCC diagnosis/prognosis and as a promising therapeutic target should be taken into account in the future. Full article

(This article belongs to the Special Issue Novel Diagnostic and Predictive Strategies in Renal Cell Tumors)

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6 pages, 493 KiB

Open AccessArticle

Renal Tumors with Oncocytic and Papillary Features: A Phenotypic and Genotypic Study

by Tania Franceschini, Francesca Giunchi, Veronica Mollica, Annalisa Altimari, Elisa Capizzi, Mattia Banfi, Riccardo Schiavina, Michelangelo Fiorentino and Francesco Massari

Diagnostics 2021, 11(2), 184; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11020184 - 28 Jan 2021

Viewed by 1932

Abstract

The occurrence of kidney oncocytic lesions with an admixed papillary component is not unusual in routine pathology practice. These neoplasms with dual morphology are classically recognized as collision tumors with variable malignant potential. Using immunohistochemistry, we investigated fluorescent in situ hybridization and next generation sequencing of the genetic and phenotypic profiles in the two components of 11 kidney tumors with colliding oncocytic and papillary features. The oncocytic component was CD117 positive, CK7 negative, and AMACR negative; the papillary component was CK7 positive, AMACR positive, and CD117 negative in all cases. Fluorescence in situ hybridization (FISH) results were inconsistent. Next generation sequencing (NGS) analysis demonstrated that the mutations identified in the two tumor components were identical and displayed an allelic frequency of approximately 50%, strongly suspicious for genetic polymorphisms. The two oncocytic and papillary tumor counterparts shared the same genetic profile and did not harbor pathogenic mutations. Clinical confirmation of the biological benign features of these tumors is required. The term collision tumor is not suitable for these neoplasms, and we propose the term oncopapillary tumor for this histological entity. Full article

(This article belongs to the Special Issue Novel Diagnostic and Predictive Strategies in Renal Cell Tumors)

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10 pages, 476 KiB

Open AccessArticle

Body Mass Index in Patients Treated with Cabozantinib for Advanced Renal Cell Carcinoma: A New Prognostic Factor?

by Matteo Santoni, Francesco Massari, Sergio Bracarda, Giuseppe Procopio, Michele Milella, Ugo De Giorgi, Umberto Basso, Gaetano Aurilio, Lorena Incorvaia, Angelo Martignetti, Mimma Rizzo, Giacomo Cartenì, Enrique Grande, Marc R. Matrana, Simon J. Crabb, Nuno Vau, Giulia Sorgentoni, Alessia Cimadamore, Rodolfo Montironi and Nicola Battelli

Diagnostics 2021, 11(1), 138; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11010138 - 18 Jan 2021

Cited by 13 | Viewed by 2250

Abstract

We analyzed the clinical and pathological features of renal cell carcinoma (RCC) patients treated with cabozantinib stratified by body mass index (BMI). We retrospectively collected data from 16 worldwide centers involved in the treatment of RCC. Overall survival (OS) and progression-free survival (PFS) were analyzed using Kaplan–Meier curves. Cox proportional models were used at univariate and multivariate analyses. We collected data from 224 patients with advanced RCC receiving cabozantinib as second- (113, 5%) or third-line (111, 5%) therapy. The median PFS was significantly higher in patients with BMI ≥ 25 (9.9 vs. 7.6 months, p < 0.001). The median OS was higher in the BMI ≥ 25 subgroup (30.7 vs. 11.0 months, p = 0.003). As third-line therapy, both median PFS (9.2 months vs. 3.9 months, p = 0.029) and OS (39.4 months vs. 11.5 months, p = 0.039) were longer in patients with BMI ≥ 25. BMI was a significant predictor for both PFS and OS at multivariate analysis. We showed that a BMI ≥ 25 correlates with longer survival in patients receiving cabozantinib. BMI can be easily assessed and should be included in current prognostic criteria for advanced RCC. Full article

(This article belongs to the Special Issue Novel Diagnostic and Predictive Strategies in Renal Cell Tumors)

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Review

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13 pages, 693 KiB

Open AccessReview

Differential Diagnosis between Oral Metastasis of Renal Cell Carcinoma and Salivary Gland Cancer

by Yoshihiro Morita, Kana Kashima, Mao Suzuki, Hiroko Kinosada, Akari Teramoto, Yuka Matsumiya and Narikazu Uzawa

Diagnostics 2021, 11(3), 506; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11030506 - 12 Mar 2021

Cited by 7 | Viewed by 4811

Abstract

Renal cell carcinoma, which has clear cells in 70% of cases, has a high frequency of hematogenous distant metastases to lung, bone, liver, and other areas. Metastatic cancer accounts for 1 to 3% of malignant tumors in the stomatognathic region, and the metastasis of renal cell carcinoma to the oral mucosal tissue, though extremely rare, does occur. In addition, clear cells have been observed in some salivary gland cancers in the oral cavity. Therefore, the differential diagnosis of metastatic renal cell carcinoma and salivary gland cancer is important. This review discusses the differential diagnosis between metastatic renal cell carcinoma and malignant tumors of the salivary gland. Full article

(This article belongs to the Special Issue Novel Diagnostic and Predictive Strategies in Renal Cell Tumors)

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12 pages, 294 KiB

Open AccessReview

The Role of Artificial Intelligence in the Diagnosis and Prognosis of Renal Cell Tumors

by Matteo Giulietti, Monia Cecati, Berina Sabanovic, Andrea Scirè, Alessia Cimadamore, Matteo Santoni, Rodolfo Montironi and Francesco Piva

Diagnostics 2021, 11(2), 206; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11020206 - 30 Jan 2021

Cited by 14 | Viewed by 2573

Abstract

The increasing availability of molecular data provided by next-generation sequencing (NGS) techniques is allowing improvement in the possibilities of diagnosis and prognosis in renal cancer. Reliable and accurate predictors based on selected gene panels are urgently needed for better stratification of renal cell carcinoma (RCC) patients in order to define a personalized treatment plan. Artificial intelligence (AI) algorithms are currently in development for this purpose. Here, we reviewed studies that developed predictors based on AI algorithms for diagnosis and prognosis in renal cancer and we compared them with non-AI-based predictors. Comparing study results, it emerges that the AI prediction performance is good and slightly better than non-AI-based ones. However, there have been only minor improvements in AI predictors in terms of accuracy and the area under the receiver operating curve (AUC) over the last decade and the number of genes used had little influence on these indices. Furthermore, we highlight that different studies having the same goal obtain similar performance despite the fact they use different discriminating genes. This is surprising because genes related to the diagnosis or prognosis are expected to be tumor-specific and independent of selection methods and algorithms. The performance of these predictors will be better with the improvement in the learning methods, as the number of cases increases and by using different types of input data (e.g., non-coding RNAs, proteomic and metabolic). This will allow for more precise identification, classification and staging of cancerous lesions which will be less affected by interpathologist variability. Full article

(This article belongs to the Special Issue Novel Diagnostic and Predictive Strategies in Renal Cell Tumors)

11 pages, 1856 KiB

Open AccessReview

Exploring the Spectrum of Kidney Ciliopathies

by Matteo Santoni, Francesco Piva, Alessia Cimadamore, Matteo Giulietti, Nicola Battelli, Rodolfo Montironi, Laura Cosmai and Camillo Porta

Diagnostics 2020, 10(12), 1099; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics10121099 - 16 Dec 2020

Cited by 8 | Viewed by 8381

Abstract

Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC). Primary cilium contributes to the regulation of the cell cycle and protein homeostasis, that is, the balance between protein synthesis and degradation by acting on the ubiquitin-proteasome system, autophagy, and mTOR signaling. Many proteins are involved in renal ciliopathies. In particular, fibrocystin (PKHD1) is involved in autosomal recessive polycystic kidney disease (ARPKD), while polycystin-1 (PKD1) and polycystin-2 (PKD2) are implicated in autosomal dominant polycystic kidney disease (ADPKD). Moreover, primary cilia are associated with essential signaling pathways, such as Hedgehog, Wnt, and Platelet-Derived Growth Factor (PDGF). In this review, we focused on the ciliopathies associated with kidney diseases, exploring genes and signaling pathways associated with primary cilium and the potential role of cilia as therapeutic targets in renal disorders. Full article

(This article belongs to the Special Issue Novel Diagnostic and Predictive Strategies in Renal Cell Tumors)

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