Int J Gynecol Pathol 2021 May 12. Epub 2021 May 12.
Department of Pathology, Yale-New Haven Hospital, Yale School of Medicine (L.I., K.E.F., V.P.) Department of Obstetrics and Reproductive Sciences, Yale University School of Medicine, New Haven (V.P.) Department of Obstetrics and Gynecology, Yale-New Haven Health, Bridgeport Hospital, Bridgeport, Connecticut (M.C.) Department of Pathology, University of California San Diego, San Diego, California (O.F.).
Patients with germline TP53 mutations are characterized by the occurrence of multiple early-onset malignancies. The characteristic syndrome is Li-Fraumeni syndrome (OMIM # 151623), an autosomal dominant disorder typified by premenopausal breast carcinoma, adrenal cortical tumors, bone and soft tissue sarcomas, leukemias, and tumors of the brain and spinal cord. Gynecologic malignancies are uncommonly reported in families harboring TP53 mutations, and the predominant tumor type reported is ovarian. Read More