Titre :

Comprehensive study of 9 novel cases of TFEB-amplified renal cell carcinoma: an aggressive tumor with frequent PDL1 expression.

Auteur(s) :

Kammerer-Jacquet, Solène-Florence [Auteur]
Institut de Génétique et Développement de Rennes [IGDR]
Centre Hospitalier Universitaire [Rennes]
Gandon, Camille [Auteur]
Dugay, Frederic [Auteur]
Institut de Génétique et Développement de Rennes [IGDR]
Laguerre, Brigitte [Auteur]
CRLCC Eugène Marquis [CRLCC]
Peyronnet, Benoit [Auteur]
Service d'urologie [Rennes] = Urology [Rennes]
Mathieu, Romain [Auteur]
Verhoest, Grégory [Auteur]
Service d'urologie [Rennes] = Urology [Rennes]
Bensalah, Karim [Auteur]
Leroy, Xavier [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Aubert, Sebastien [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Vermaut, Catherine [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Escande, Fabienne [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Verkarre, Virginie [Auteur]
Hôpital Européen Georges Pompidou [APHP] [HEGP]
Compérat, Eva [Auteur]
CHU Tenon [AP-HP]
Ambrosetti, Damien [Auteur]
Centre Hospitalier Universitaire de Nice [CHU Nice]
Pedeutour, Florence [Auteur]
Centre Hospitalier Universitaire de Nice [CHU Nice]
Institut de Recherche sur le Cancer et le Vieillissement [IRCAN]
Belaud-Rotureau, Marc-Antoine [Auteur]
Institut de Génétique et Développement de Rennes [IGDR]
Rioux-Leclercq, Nathalie [Auteur]
Institut de Génétique et Développement de Rennes [IGDR]

Titre de la revue :

Histopathology

Nom court de la revue :

Histopathology

Date de publication :

2022-05-17

ISSN :

1365-2559

Mot(s)-clé(s) en anglais :

amplification
MITF
renal cell carcinoma
TFEB gene

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

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 ...
Lire la suite >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. The pathological and immunohistochemical features were centrally reviewed by expert uropathologists. Fluorescence in situ hybridisation (FISH) confirmed the diagnosis and comparative genomic hybridisation (CGH) was performed to determine quantitative genomic alterations. We also performed an exhaustive review of the literature and compiled our data. Results TFEB-amplified RCC were locally advanced, with initial lymph node involvement in one case and liver metastasis in another case. They were high-grade eosinophilic tumours with papillary/pseudopapillary architecture, frequent positivity for melanocytic markers, and frequent PDL1 expression. FISH demonstrated high-level TFEB amplification in six cases. One case showed concomitant TFEB translocation. CGH analysis identified complex alterations with frequent losses of 1p, 2q, 3p, 6p, and frequent 6p and 8q gains. VEGFA coamplification was identified in all cases with a lower level than TFEB. The prognosis was poor, with five patients having lymph node or distant metastases. Conclusion TFEB-amplified RCC is a rare molecular subgroup with variable morphology whose diagnosis is confirmed by FISH analysis. The complex alterations identified by CGH are consistent with an aggressive clinical behaviour. The coamplification of VEGFA and the expression of PDL1 could suggest a potential benefit from antiangiogenics and targeted immunotherapy in combination for these aggressive tumours.Lire moins >

Langue :

Anglais

Comité de lecture :

Oui

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Université de Lille
CHU Lille

Collections :

• Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Date de dépôt :

2023-06-05T07:04:15Z
2024-06-06T10:02:04Z