BILATERAL OVARIAN TUMORS ASSOCIATED WITH DICER1 SYNDROME IN A PEDIATRIC PATIENT: CASE REPORT AND LITERATURE REVIEW

Abstract

DICER1 syndrome is a rare genetic condition associated with an increased risk of neoplasms in various organs due to mutations in the DICER1 gene, which is essential for microRNA biogenesis. This syndrome is associated with a number of benign and malignant tumors, including ovarian tumors, particularly those of the Sertoli-Leydig cell type. This paper describes the case of an 11-year-old patient diagnosed with DICER1 syndrome who presented with bilateral ovarian tumors of the Sertoli-Leydig cell type. The patient underwent successful surgical treatment, and the DICER1 gene mutation was confirmed by genetic testing. In addition to the case report, this paper reviews the literature on the association between DICER1 syndrome and ovarian tumors in children. The review identified that the management of patients with this syndrome primarily involves surgical removal of the tumors and long-term follow-up due to the risk of additional tumors. The importance of early diagnosis and genetic counseling for family members is highlighted, aiming at the prevention and appropriate management of associated neoplasms. This study contributes to the clinical and genetic understanding of DICER1 syndrome, reinforcing the need for a multidisciplinary approach to the treatment and follow-up of these patients, in addition to highlighting the importance of continuous surveillance given the risk of recurrence and the emergence of new tumors.