Pediatric Gynecologic Malignancy and DICER1: A Case Series That Further Elucidates the Phenotype [35H

Abstract

INTRODUCTION: Pediatric gynecologic malignancies are rare and may be linked to genetic syndromes. DICER1 syndrome, an emerging entity first described in pleuropulmonary blastoma, was more recently identified as a hereditary tumor predisposition syndrome that can be associated with gynecologic malignancies. Gynecologic manifestations of DICER1 syndrome have been described in single or small case reports with an array of pathologic findings. We seek to better define tumor pathology that should prompt testing for DICER1. METHODS: An IRB approved, retrospective chart review was conducted for all female patients less than 25 years old with sex cord stromal tumors at our institution between 1990 and 2019. Patients were included if they had a diagnosis of DICER, Sertoli-Leydig tumor, rhabdomyosarcoma, gynandroblastoma, or mixed sex cord stromal tumor. RESULTS: We identified 21 patients meeting inclusion criteria. Histologic descriptions were noted to be similar across all tumor types with all but one having numerous similarities. Seventeen had genetic testing of any type, although not all were identified for DICER1 testing. Nine of these (53%) had a somatic or germline DICER1 mutation. CONCLUSION: DICER1 syndrome is not well known in the gynecologic community. Although the histology of these tumors is complex and variable, a clear pattern emerges from our series. We present this as a phenotype that should prompt testing for DICER1, as the implications of germline mutations are lifelong. Obstetrician/gynecologists play an important role in testing, surveillance and diagnosis of additional primary tumors as the risk begins with conception and continues throughout the lifespan.