Clinicians Practicing Obstetrics and Gynecology Are Uniquely Situated to Recognize DICER1 Syndrome

Pediatric gynecologic malignancies are rare, present with diverse pathologic findings, and can be associated with genetic syndromes such as Peutz-Jeghers, Lynch, and Li-Fraumeni. DICER1 mutation is an emerging entity that has been demonstrated to cause a hereditary tumor predisposition syndrome. Previously, gynecologic manifestations of DICER1 syndrome have been described in single or small case reports with an array of pathologic findings. Here, we discuss pediatric and adolescent patients with gynecologic DICER1-associated tumors, outline the significance of DICER1, and suggest points of care where the syndrome may be diagnosed in the context of routine obstetric and gynecology practice. Patients presenting with a personal or family history suspicious for DICER1 syndrome should undergo both germline and somatic testing, as the presence of DICER1 mutations will have an impact on both treatment and surveillance strategies.