Renal Cancer in Hereditary Leiomyomatosis and Renal Cell Cancer: A Scoping Review of Epidemiology, Clinical Features, Management, and Outcomes
Notice bibliographique
Résumé
Purpose: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant syndrome caused by germline pathogenic variants in the fumarate hydratase ( FH ) gene. Affected individuals face up to a 15% to 20% lifetime risk of developing aggressive renal cell carcinoma (RCC). Despite well-defined syndromic features—cutaneous and uterine leiomyomas (ULs)—diagnosis is often delayed, and optimal management strategies remain poorly defined. This review aims to synthesize current evidence on the epidemiology, clinical features, diagnostic pathways, treatment strategies, and outcomes of HLRCC-associated RCC and to identify knowledge gaps and inform clinical and research priorities. Materials and Methods: We conducted a scoping review in accordance with PRISMA-ScR and the Arksey and O'Malley framework. Six databases (MEDLINE, Embase, Scopus, Web of Science, CENTRAL, ClinicalTrials.gov) were searched from inception through July 30, 2024. Studies with original data on RCC in confirmed or suspected HLRCC were included. Data were extracted and synthesized from individual patient data (IPD) and observational cohorts and presented using descriptive statistics and narrative synthesis. Results: A total of 149 studies were included, comprising 382 IPD from case reports/series and 16 observational cohorts. RCC occurred at a mean age of 39.4 years and presented symptomatically in > 85% of cases. Despite frequent syndromic features (ULs: 80.9%, cutaneous leiomyomas: 47.5%), < 15% of patients underwent FH testing before cancer diagnosis. Tumors were large (mean 7.6 cm), often metastatic (stage IV in 52.3% of IPD), and showed high rates of FH loss (95.9%) and 2SC positivity (94%-100%). Nephrectomy was the most common treatment; systemic therapy was infrequently reported. Limited observation data suggest potential benefit of tyrosine kinase inhibitors, vascular endothelial growth factor inhibitors, and immune-targeted therapies. Early-stage disease was associated with improved survival (>80 months). Median survival in metastatic cases ranged from 15 to 35 months. Conclusions: HLRCC-associated RCC remains underdiagnosed and frequently presents at advanced stages. Earlier genetic testing, greater syndromic recognition, and multidisciplinary surveillance are needed to enable timely detection. Evidence for systemic therapy is limited, and prospective trials are urgently needed to define optimal management. Coordinated research efforts and biomarker-driven diagnostic strategies will be essential to improving outcomes for this aggressive hereditary kidney cancer subtype.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».