scholarly journals MicroRNA profile: a promising ancillary tool for accurate renal cell tumour diagnosis

2013 ◽  
Vol 109 (10) ◽  
pp. 2646-2653 ◽  
Author(s):  
R M Silva-Santos ◽  
P Costa-Pinheiro ◽  
A Luis ◽  
L Antunes ◽  
F Lobo ◽  
...  
Author(s):  
Patrick R Benusiglio ◽  
Sophie Giraud ◽  
Sophie Deveaux ◽  
Arnaud Méjean ◽  
Jean-Michel Correas ◽  
...  

2020 ◽  
Vol 38 (10) ◽  
pp. 799.e11-799.e22 ◽  
Author(s):  
Matthew J. Moynihan ◽  
Travis B. Sullivan ◽  
Eric Burks ◽  
Jared Schober ◽  
Marc Calabrese ◽  
...  

2021 ◽  
pp. jmedgenet-2020-107434
Author(s):  
Lisa Golmard ◽  
Lauren M Vasta ◽  
Valérie Duflos ◽  
Carole Corsini ◽  
Catherine Dubois d'Enghien ◽  
...  

DICER1 syndrome is a rare paediatric autosomal dominant inherited disorder predisposing to various benign and malignant tumours. It is caused by a germline pathogenic variant in DICER1, and the second hit for tumour development is usually a missense hotspot pathogenic variant in the DICER1 ribonuclease IIIb domain. While DICER1 predisposing variants account for about 60% of ovarian Sertoli-Leydig cell tumours, no DICER1-related testicular stromal tumours have been described. Here we report the first two cases of testicular stromal tumours in children carrying a DICER1 germline pathogenic variant: a case of Sertoli cell tumour and a case of Leydig cell tumour diagnosed at 2 and 12 years of age, respectively. A somatic DICER1 hotspot pathogenic variant was detected in the Sertoli cell tumour. This report extends the spectrum of DICER1-related tumours to include testicular Sertoli cell tumour and potentially testicular Leydig cell tumour. Diagnosis of a testicular Sertoli cell tumour should prompt DICER1 genetic testing so that patients with a DICER1 germline pathogenic variant can benefit from established surveillance guidelines. DICER1 genetic evaluation may be considered for testicular Leydig cell tumour. Our findings suggest that miRNA dysregulation underlies the aetiology of some testicular stromal tumours.


1973 ◽  
Vol 45 (s1) ◽  
pp. 279s-282s
Author(s):  
J. W. Conn ◽  
E. L. Cohen ◽  
W. J. McDonald ◽  
W. M. Blough ◽  
C. P. Lucas ◽  
...  

1. A further case of renin-secreting renal juxtaglomerular cell tumour is reported. 2. Hypertension, aldosteronism and hypokalaemia were associated with high peripheral levels of renin. 3. Renin activity was twice as high in right as in left renal vein plasma. 4. A renal juxtaglomerular cell tumour was found in the right kidney and removed, after which the biochemical abnormalities and blood pressure were promptly corrected. 5. Explants of tumour tissue in culture produced large amounts of renin.


2019 ◽  
Vol 201 (Supplement 4) ◽  
Author(s):  
Julia Oto ◽  
Mª José Solmoirago ◽  
José Vicente Sánchez-González* ◽  
Javier Pérez-Ardavin ◽  
Emma Plana ◽  
...  

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