Renal cell carcinoma in children and adolescents: a retrospective study of a French–Italian series of 93 cases

Autor: Thomas Denize, Simona Massa, Alexander Valent, Lucia Militti, Alessia Bertolotti, Marta Barisella, Nathalie Rioux‐Leclercq, Gabriel G Malouf, Filippo Spreafico, Arnauld Verschuur, Justine Beek, Lieve Tytgat, Marry M Heuvel‐Eibrink, Gordan Vujanic, Paola Collini, Aurore Coulomb
Přispěvatelé: Paediatric Oncology, CCA - Cancer Treatment and Quality of Life, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Institut Gustave Roussy (IGR), Analyse moléculaire, modélisation et imagerie de la maladie cancéreuse (AMMICa), Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut de Cancérologie de Strasbourg Europe (ICANS), Hôpital de la Timone [CHU - APHM] (TIMONE), Utrecht University [Utrecht], Weill Cornell Medicine [Qatar], Associazione Bianca Garavaglia, Jonchère, Laurent
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Histopathology, 80(6), 928-945. Wiley-Blackwell
Histopathology
Histopathology, 2022, 80 (6), pp.928-945. ⟨10.1111/his.14634⟩
ISSN: 0309-0167
1365-2559
DOI: 10.1111/his.14634⟩
Popis: International audience; 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. TFE3 and TFEB fluorescence in-situ hybridisation (FISH) analyses and a panel of immunohistochemical stains were applied. The median age at diagnosis was 11 years (range = 9 months-17 years). MiT family (MiTF) translocation RCCs accounted for 52% of the tumours, followed by papillary (20%) and unclassified RCCs (13%). Other subtypes, such as SDHB-deficient and fumarate hydratase-deficient RCCs, represented 1-3% of the cases. We also described a case of ALK-rearranged RCC with a metanephric adenoma-like morphology. Conclusion A precise histological diagnosis is mandatory, as targeted therapy could be applied for some RCC subtypes, i.e. MiTF-translocation and ALK-translocation RCC. Moreover, some RCC subtypes may be associated with a predisposition syndrome that will impact patients' and family's management and genetic counselling. A precise RCC subtype is also mandatory for the clinical management of the patients and inclusion in new prospective clinical trials.
Databáze: OpenAIRE
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