Abstract
Objective: Ovarian sex cord-stromal tumors (OSCSTs) are a rare and heterogeneous group, accounting for less than 1% of all malignancies and about 10% of ovarian tumors in childhood and adolescence. Some OSCSTs have been associated with germline pathogenic DICER1 variations. This study aims to determine the incidence of DICER1 pathogenic variations in a small cohort of OSCSTs and evaluate the clinicopathological features and patient outcomes.
Material and Methods: We retrospectively reviewed the medical records of the patients diagnosed with OSCSTs between 2014-2021. Molecular genetic sequencing of the tumor samples to detect a RNase IIIb domain hot spot mutation in DICER1 was performed in five patients.
Results: Molecular genetic sequencing of the tumor samples revealed a DICER1 gene mutation in exon 27 c.5437G>C (p.E1813Q) in a patient with Sertoli-Leydig cell tumour.
Conclusions: Although our study included a small number of patients, our findings highlight the importance of knowing the possible association between OSCSTs and pathogenic germline DICER1 variants since detecting this mutation may provide the opportunity for surveillance of related conditions that could improve long-term outcomes and survival, and also enable screening of family members.