Journal
GYNECOLOGIC ONCOLOGY
Volume 163, Issue 1, Pages 14-21Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygyno.2021.08.008
Keywords
PTEN mutation; Germline; Cowden syndrome; Pathology; Targeted therapy
Categories
Funding
- Breast Cancer Research Foundation
- Cycle for Survival
- Stand Up To Cancer
- NIH/NCI [P30CA008748]
- Grupos Estables Asociacion Espanola contra el Cancer, Spain
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The article presents a rare case of Cowden syndrome-associated endometrial carcinoma, discussing the clinical, pathological, and molecular features of the tumor, as well as predisposing inherited syndromes to endometrial carcinoma and PTEN-targeted therapies.
Somatic PTEN alterations are common in endometrial carcinoma (EC), but in rare cases PTEN mutations are associated with inherited syndromes. Here, we present a case of Cowden syndrome-associated EC. We discuss clinical, pathologic and molecular features of her tumor and PTEN-mutated EC, inherited syndromes predisposing to EC and PTEN-targeted therapies. (c) 2021 Elsevier Inc. All rights reserved.
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