scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Author(s):  
Maria Shekhovtsova ◽  
Gisela Lage ◽  
Liliana Lima dos Santos ◽  
Ana Pires-Luís

2015 ◽  
Vol 83 (1) ◽  
pp. 43-48 ◽  
Author(s):  
Vincenzo M. Altieri ◽  
Barbara Altieri ◽  
Roberto Castellucci ◽  
Stefano Alba ◽  
Francesco Bottone ◽  
...  

2021 ◽  
Vol 1 (1) ◽  
pp. 75
Author(s):  
Shuann Shwana ◽  
Natasha Shrikrishnapalasuriyar ◽  
Win Yin ◽  
Monica Vij ◽  
Atul Kalhan ◽  
...  


1986 ◽  
Vol 93 (11) ◽  
pp. 1171-1175 ◽  
Author(s):  
MARC DHONT ◽  
FRANK VANDEKERCKHOVE ◽  
MARLEEN PRAET ◽  
ERIC VANLUCHENE ◽  
DIRK VANDEKERCKHOVE

2009 ◽  
Vol 123 (11) ◽  
Author(s):  
G X Papacharalampous ◽  
L Manolopoulos ◽  
S Korres ◽  
C Dicoglou ◽  
A Bibas

AbstractBackground:Adult laryngeal rhabdomyosarcomas are rare tumours commonly treated by laryngectomy.Case report:We present a case of subglottic laryngeal rhabdomyosarcoma in an elderly woman, treated by endoscopic resection.Conclusion:Despite the fact that this tumour is traditionally treated aggressively, this approach is not supported by the literature. Due to the varying biological behaviour of this tumour in adults, we believe that conservative surgical procedures or combination therapies should be preferred, rather than total laryngectomy.


2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Manuela Quiroga-Carrillo ◽  
Cristian Correa-Arrieta ◽  
Fernando Ortiz-Corredor ◽  
Fernando Suarez-Obando

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.


2019 ◽  
Vol Volume 12 ◽  
pp. 1127-1132 ◽  
Author(s):  
Weiwei Yu ◽  
Haiqiang Jin ◽  
Qian You ◽  
Ding Nan ◽  
Yining Huang

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