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Comparing Metastatic Clear Cell Renal Cell Carcinoma Model Established in Mouse Kidney and on Chicken Chorioallantoic Membrane
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[Hereditary kidney cancers: The pathologist's view in 2020].
Virginie Verkarre1, Aurélien Morini2, Thomas Denize2
1Service d'anatomie pathologique, université de Paris, hôpital européen Georges-Pompidou, Assistance publique-Hôpitaux de Paris-Centre, 20, rue Leblanc, 75015 Paris, France; Inserm U970, équipe labellisée par la Ligue contre le cancer, PARCC, université de Paris, Paris, France; Réseau national de référence pour cancers rares de l'adulte PREDIR (« Maladie de von Hippel-Lindau et prédispositions héréditaires au cancer rénal ») labellisée par l'Institut national du cancer, université Paris Saclay, Assistance publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
Annales De Pathologie
|March 22, 2020
Summary
Hereditary adult kidney tumors, often clear cell or papillary types, require early detection for genetic screening. Pathologists play a key role in diagnosing these hereditary cancer syndromes.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Hereditary predispositions account for approximately 5% of adult kidney tumors, encompassing numerous autosomal dominant syndromes.
- Common tumor types include clear cell renal cell carcinoma, papillary renal cell carcinoma, chromophobe renal cell carcinoma, and angiomyolipomas.
- Early detection is crucial for personalized patient care and genetic screening of at-risk family members, particularly within networks like the French PREDIR.
Purpose of the Study:
- To review all subtypes of adult renal tumors associated with hereditary predisposition syndromes.
- To highlight the evolving diagnostic landscape from targeted genetic analysis to gene panels.
- To emphasize the critical role of pathology and immunohistochemical biomarkers in identifying specific hereditary entities.
Main Methods:
- Review of adult renal tumors within hereditary predisposition syndromes.
- Analysis of diagnostic contributions from pathology, including immunohistochemical biomarkers.
- Discussion of advancements in genetic analysis, such as gene panels.
- Identification of new renal tumor subtypes associated with hereditary settings.
Main Results:
- Hereditary kidney tumors encompass several subtypes, with clear cell, papillary, chromophobe RCCs, and angiomyolipomas being most frequent.
- Immunohistochemical markers aid in diagnosing hereditary leiomyomatosis and renal cell carcinoma (loss of fumarate hydratase) and succinate dehydrogenase-deficient renal cell carcinoma (loss of succinate dehydrogenase B).
- Germline variation identification is essential for confirming these diagnoses.
- New subtypes of hereditary renal tumors continue to be identified, expanding diagnostic algorithms.
Conclusions:
- Accurate diagnosis of hereditary kidney tumors is vital for patient management and family screening.
- Pathological assessment, aided by specific biomarkers, is central to identifying hereditary renal cell carcinoma subtypes.
- Ongoing research and characterization of renal tumors are expanding our understanding of hereditary cancer syndromes.
Keywords:
FHGermline predisposition to renal cancerMETPrédisposition héréditaire aux cancers du reinSDHxTSCVHLMore Related Videos
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