Publications by authors named "Rioux-Leclercq Nathalie"

Article Synopsis
  • The objective of the study was to update recommendations for managing kidney cancer based on recent literature from 2014 to 2024, focusing on diagnosis, treatment, and follow-up methods.
  • Key findings highlighted that kidney cancer linked to trichloroethylene exposure should be considered an occupational disease, and that contrast-enhanced CT scans are essential for diagnosis, while PET scans are not necessary.
  • The updated guidelines recommend specific classifications for tumors, advocate for less invasive strategies like biopsies to avoid unnecessary surgeries, and suggest various surgical and treatment options tailored to tumor size, patient age, and overall health.
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Over the years, our understanding of cribriform and intraductal prostate cancer (PCa) has evolved significantly, leading to substantial changes in their classification and clinical management. This review discusses the histopathological disparities between intraductal and cribriform PCa from a diagnostic perspective, aiming to aid pathologists in achieving accurate diagnoses. Furthermore, it discusses the ongoing debate surrounding the different recommendations between ISUP and GUPS, which pose challenges for practicing pathologists and complicates consensus among them.

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Introduction: Papillary renal cell carcinoma (pRCC) is a rare and aggressive cancer with no specifically established therapeutic strategy in the metastatic setting. Combinations of tyrosine kinase and immune checkpoint inhibitors (ICI) are a promising option. We aimed to study the immune landscape of metastatic pRCC, and its interactions with angiogenesis pathways, to search for potential therapeutic targets.

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Renal cell carcinomas (RCC) represent a group of heterogeneous tumors whose classification has greatly evolved since 1981. The latest update in 2022 classifies all renal cell carcinomas into six categories according to their morphology or the detection of specific molecular alterations. Molecular disassembly of renal cell carcinomas with papillary features has enabled the identification of new entities characterized by a specific molecular alteration, such as Fumarate Hydratase (FH) deficient RCC, TFE3-rearranged RCC or TFEB-altered RCC.

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Assessing programmed death ligand 1 (PD-L1) expression on tumor cells (TCs) using Food and Drug Administration-approved, validated immunoassays can guide the use of immune checkpoint inhibitor (ICI) therapy in cancer treatment. However, substantial interobserver variability has been reported using these immunoassays. Artificial intelligence (AI) has the potential to accurately measure biomarker expression in tissue samples, but its reliability and comparability to standard manual scoring remain to be evaluated.

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Background: Perivascular epithelioid cell neoplasms (PEComas) encompass a heterogeneous family of mesenchymal tumors. Previously described clinicopathologic features aimed at distinguishing benign from malignant variants but lacked prognostic value.

Methods: This retrospective analysis examined clinicopathologic data from patients who had localized PEComa across French Sarcoma Network centers.

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Mismatch repair deficiency (d-MMR)/microsatellite instability (MSI), , and mutational status are crucial for treating advanced colorectal cancer patients. Traditional methods like immunohistochemistry or polymerase chain reaction (PCR) can be challenged by artificial intelligence (AI) based on whole slide images (WSI) to predict tumor status. In this systematic review, we evaluated the role of AI in predicting MSI status, , and mutations in colorectal cancer.

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Background: Papillary renal cell carcinoma (pRCC) is the most common non-clear cell RCC, and associated with poor outcomes in the metastatic setting. In this study, we aimed to comprehensively evaluate the immune tumor microenvironment (TME), largely unknown, of patients with metastatic pRCC and identify potential therapeutic targets.

Methods: We performed quantitative gene expression analysis of TME using Microenvironment Cell Populations-counter (MCP-counter) methodology, on two independent cohorts of localized pRCC (n=271 and n=98).

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Context: Computational pathology is a new interdisciplinary field that combines traditional pathology with modern technologies such as digital imaging and machine learning to better understand the diagnosis, prognosis, and natural history of many diseases.

Objective: To provide an overview of digital and computational pathology and its current and potential applications in renal cell carcinoma (RCC).

Evidence Acquisition: A systematic review of the English-language literature was conducted using the PubMed, Web of Science, and Scopus databases in December 2022 according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (PROSPERO ID: CRD42023389282).

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The management of anal squamous cell carcinoma (ASCC) has yet to experience the transformative impact of precision medicine. Conducting genomic analyses may uncover novel prognostic biomarkers and offer potential directions for the development of targeted therapies. To that end, we assessed the prognostic and theragnostic implications of pathogenic variants identified in 571 cancer-related genes from surgical samples collected from a homogeneous, multicentric French cohort of 158 ASCC patients who underwent abdominoperineal resection treatment.

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Objective: To describe the feasibility of hypothermic machine perfusion (HMP) in uterus transplantation (UT) to potentially improve the preservation of the uterus and enhance graft preservation in the donation after brainstem death (DBD) context. Uterus transplantation is a new surgical approach to treating absolute uterine infertility; it can be performed after living donation or after DBD. In the DBD context, the uterus is typically the last organ removed after other vital organs, with the exception of the Baylor team, which removes the uterus first.

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Deep learning (DL), often called artificial intelligence (AI), has been increasingly used in Pathology thanks to the use of scanners to digitize slides which allow us to visualize them on monitors and process them with AI algorithms. Many articles have focused on DL applied to prostate cancer (PCa). This systematic review explains the DL applications and their performances for PCa in digital pathology.

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Article Synopsis
  • The PIK3CA-related overgrowth spectrum (PROS) includes conditions caused by mosaic variants in the PIK3CA gene, which can also lead to various cancers, including an increased risk of Wilms tumor (WT).
  • A study of 267 PROS patients found a low overall cancer development rate of 2.2%, with an estimated 5.6% probability of cancer by age 45, suggesting the risk of WT in these patients is relatively low.
  • The findings indicate that routine abdominal ultrasound for cancer detection in PROS might not be necessary, and more long-term studies are needed to better understand the risks of different cancers and their connection to PIK3CA variants.
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Purpose: Cytology and cystoscopy, the current gold standard for diagnosing urothelial carcinomas, have limits: cytology has high interobserver variability with moderate or not optimal sensitivity (particularly for low-grade tumors); while cystoscopy is expensive, invasive, and operator dependent. The VISIOCYT1 study assessed the benefit of VisioCyt for diagnosing urothelial carcinoma.

Methods: VISIOCYT1 was a French prospective clinical trial conducted in 14 centers.

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To elucidate the spectrum of metastatic solid tumors to the testis and their clinicopathologic features. The databases and files of 26 pathology departments from 9 countries on 3 continents were surveyed to identify metastatic solid tumors to the testis and to characterize their clinicopathologic features in detail. We compiled a series of 157 cases of metastatic solid tumors that secondarily involved the testis.

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Background: Artificial Intelligence (AI)-based Deep Neural Networks (DNNs) can handle a wide range of applications in image analysis, ranging from automated segmentation to diagnostic and prediction. As such, they have revolutionized healthcare, including in the liver pathology field.

Objective: The present study aims to provide a systematic review of applications and performances provided by DNN algorithms in liver pathology throughout the Pubmed and Embase databases up to December 2022, for tumoral, metabolic and inflammatory fields.

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Article Synopsis
  • * A total of 98 cases of secondary testis tumors were identified, with prostate cancer being the most common primary source (38 cases), followed by colorectal and gastric cancers, with a median patient age of 66.5 years.
  • * The study highlights diagnostic challenges and proposes assessment strategies, discussing potential pathways for how cancer spreads from the original site to the testis, exemplified by the case studies presented.
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Fumarate hydratase deficient renal cell carcinoma (FH-RCC) is a rare malignant neoplasia caused by constitutive or somatic mutations in the FH gene whose diagnosis is primordial, requiring genetic counselling. Because of histological heterogeneity, such tumors have been in the past misclassified as "type 2 papillary carcinoma", "tubulo-cystic renal cell carcinoma" or "high grade papillary carcinoma". We report here a case of FH deficient renal cell carcinoma (FH-RCC) in a 69years old patient.

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Background: Intratumor heterogeneity (ITH) is a key feature in clear cell renal cell carcinomas (ccRCCs) that impacts outcomes such as aggressiveness, response to treatments, or recurrence. In particular, it may explain tumor relapse after surgery in clinically low-risk patients who did not benefit from adjuvant therapy. Recently, single-cell RNA sequencing (scRNA-seq) has emerged as a powerful tool to unravel expression ITH (eITH) and might enable better assessment of clinical outcomes in ccRCC.

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Context: The advent of immune check inhibitors (ICIs) has tremendously changed the prognosis of metastatic renal cell carcinoma (mRCC), adding an unseen substantial overall survival benefit. These agents could be administered alone or in combination with anti-vascular endothelial growth factor (anti-VEGF) therapies. So far, treatment allocation is based only on clinical stratification risk models.

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Background: Predictive tools can be useful for adapting surveillance or including patients in adjuvant trials after surgical resection of nonmetastatic renal cell carcinoma (RCC). Current models have been built using traditional statistical modelling and prespecified variables, which limits their performance.

Objective: To investigate the performance of machine learning (ML) framework to predict recurrence after RCC surgery and compare them with current validated models.

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Background: The phase II NIVOREN GETUG-AFU 26 study reported safety and efficacy of nivolumab in patients with metastatic clear cell renal cell carcinoma (m-ccRCC) in a 'real-world setting'. We conducted a translational-research program to determine whether specific circulating immune-cell populations and/or soluble factors at baseline were predictive of clinical outcomes in patients with m-ccRCC treated with nivolumab within the NIVOREN study.

Methods: Absolute numbers of 106 circulating immune-cell populations were prospectively analyzed in patients treated at a single institution within the NIVOREN trial with available fresh-whole-blood, using dry formulation panels for multicolor flow cytometry.

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Aims: First described in 2014, renal cell carcinoma (RCC) with TFEB amplification (6p21) is a rare molecular subgroup whose diagnosis is challenging. The prognosis and therapeutic implications remain unclear.

Methods: We report here the clinical, histological, immunohistochemical, and genetic features of nine novel cases.

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Main prognostic factors of anal squamous cell carcinoma (ASCC) are tumor size, differentiation, lymph node involvement, and male gender. However, they are insufficient to predict relapses after exclusive radiotherapy (RT) or chemoradiotherapy (CRT). has been associated with poor prognosis in several digestive cancers.

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Aims: Renal cell carcinomas (RCCs) represent 2-5% of kidney malignancies in children and adolescents. Appropriate diagnostic and classification are crucial for the correct management of the patients and in order to avoid inappropriate pre-operative chemotherapy, which is usually recommended if a Wilms' tumour is suspected.

Methods And Results: A French-Italian series of 93 renal cell carcinomas collected from 1990 to 2019 in patients aged less than 18 years was reclassified according to the 2016 World Health Organization (WHO) classification and the latest literature.

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