TY - JOUR
T1 - Renal cell carcinoma in children and adolescents
T2 - a retrospective study of a French–Italian series of 93 cases
AU - Denize, Thomas
AU - Massa, Simona
AU - Valent, Alexander
AU - Militti, Lucia
AU - Bertolotti, Alessia
AU - Barisella, Marta
AU - Rioux-Leclercq, Nathalie
AU - Malouf, Gabriel G.
AU - Spreafico, Filippo
AU - Verschuur, Arnauld
AU - van der Beek, Justine
AU - Tytgat, Lieve
AU - van den Heuvel-Eibrink, Marry M.
AU - Vujanic, Gordan
AU - Collini, Paola
AU - Coulomb, Aurore
N1 - Publisher Copyright:
© 2022 John Wiley & Sons Ltd.
PY - 2022/5
Y1 - 2022/5
N2 - 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.
AB - 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.
KW - paediatric cancer
KW - renal cell carcinoma
KW - TFE3
UR - http://www.scopus.com/inward/record.url?scp=85126842581&partnerID=8YFLogxK
U2 - 10.1111/his.14634
DO - 10.1111/his.14634
M3 - Article
C2 - 35238063
AN - SCOPUS:85126842581
VL - 80
SP - 928
EP - 945
JO - Histopathology
JF - Histopathology
SN - 0309-0167
IS - 6
ER -