Paul Scott Thorner, Anne-Laure Chong, Maria Apellaniz-Ruiz, Naciba Benlimame, Paula Marrano, Fadi Brimo, Somruetai Shuangshoti, Shanop Shuangshoti, William D Foulkes
DICER1 tumor predisposition syndrome results from pathogenic variants in DICER1 and is associated with a variety of benign and malignant lesions, typically involving kidney, lung, and female reproductive system. Over 70% of sarcomas in DICER1 tumor predisposition syndrome occur in females. Notably, pediatric cystic nephroma (pCN), a classic DICER1 tumor predisposition syndrome lesion, shows estrogen receptor (ER) expression in stromal cells. There are also renal, hepatic, and pancreatic lesions unassociated with DICER1 tumor predisposition syndrome that have an adult female predominance and are characterized/defined by ER-positive stromal cells...
March 28, 2024: American Journal of Surgical Pathology