Related Experiment Video
Updated: Dec 18, 2025
Assessment of Ovarian Cancer Spheroid Attachment and Invasion of Mesothelial Cells in Real Time
Published on: May 20, 2014
Clinical Characteristics and Mutation Analyses of Ovarian Sertoli-Leydig Cell Tumors
Zhen Yuan1, Xiao Huo1, Dezhi Jiang2
1Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Background:
There are limited studies on Sertoli-Leydig cell tumors (SLCTs) and no data in the population of Chinese patients with SLCTs from the genetic level. In addition, previous studies on SLCTs have focused exclusively on mutations in the DICER1 gene and no data exists on the genetic landscape of SLCTs.
Methods:
Patients with moderately or poorly differentiated SLCTs who underwent surgical resection between January 2012 and October 2018 in our institution were recruited. Whole exome sequencing was performed on formalin-fixed, paraffin-embedded tumor tissue and peripheral blood or normal tissue samples.
Results:
Seventeen patients were recruited with 19 tumor samples. The rate of tumor-associated germline mutations was 6 of 17 (35.3%), and that of DICER1 germline mutations was 4 of 17 (23.5%). Regarding clinical relapse, patients with germline tumor-associated mutations had significantly poorer prognosis than those without (p = .007), and those with germline DICER1 mutations were relatively more likely to exhibit clinical relapse, although not to a significant degree (p = .069). Regarding somatic mutations, firstly, the subclone evolution analysis demonstrated that the two tumors on the contralateral ovary were primary tumors, respectively. Secondly, somatic mutations were most commonly found in CDC27 (10/19, 52.6%), DICER1 (4/19, 21.1%), and MUC22 (4/19, 21.1%). And the analysis of cancer cell fractions showed that DICER1 mutations were correlated with tumorigenesis of SLCTs. The rates of germline and somatic DICER1 mutations were higher in patients who were younger than 18 years than those in older patients (p = .022 and p = .001, respectively).
Conclusion:
Our study indicates that genetic testing may have important clinical significance for patients with SLCTs, particularly for younger patients.
Implications For Practice:
Bilateral ovarian Sertoli-Leydig cell tumors were verified to be primary tumors from the genetic perspective. The rates of germline and somatic DICER1 mutations were 4 of 17 (23.5%) and 4 of 19 (21.1%), respectively. The rates of germline and somatic DICER1 mutations were higher in patients who were younger than 18 years than those in older patients (p = .022 and p = .001, respectively).
Insights
Genetic testing reveals significant mutations in Sertoli-Leydig cell tumors (SLCTs), with DICER1 mutations being common. Identifying these genetic alterations, especially in younger patients, can aid in clinical management and prognosis.
Area of Science:
- Oncology
- Genetics
- Gynecologic Oncology
Background:
- Limited genetic data exists for Sertoli-Leydig cell tumors (SLCTs), particularly in Chinese populations.
- Previous research on SLCTs primarily focused on DICER1 gene mutations, leaving the broader genetic landscape unexplored.
Purpose of the Study:
- To investigate the genetic landscape of Sertoli-Leydig cell tumors (SLCTs) using whole exome sequencing.
- To identify common germline and somatic mutations in SLCTs and their correlation with clinical outcomes and patient demographics.
Main Methods:
- Whole exome sequencing was performed on tumor tissue and peripheral blood/normal tissue from 17 patients with SLCTs.
- Analysis included germline and somatic mutation detection, subclone evolution, and cancer cell fraction analysis.
Main Results:
- Germline tumor-associated mutations were found in 35.3% of patients, with DICER1 germline mutations in 23.5%.
- Somatic mutations were most frequent in CDC27 (52.6%), DICER1 (21.1%), and MUC22 (21.1%).
- Germline and somatic DICER1 mutations were significantly more prevalent in patients younger than 18 years.
Conclusions:
- Genetic testing holds significant clinical value for managing SLCTs, especially in pediatric and adolescent patients.
- DICER1 mutations are implicated in SLCT tumorigenesis and are more common in younger individuals.
