Diagnosis and management of an endometrial cancer patient with Cowden syndrome

Beryl L Manning-Geist; Sonia Gatius; Ying Liu; Mabel Gil; Arnaud Da Cruz Paula; Noemi Tuset; Nadeem R Abu-Rustum; Carol Aghajanian; Britta Weigelt; Xavier Matias-Guiu

doi:10.1016/j.ygyno.2021.08.008

Diagnosis and management of an endometrial cancer patient with Cowden syndrome

Gynecol Oncol. 2021 Oct;163(1):14-21. doi: 10.1016/j.ygyno.2021.08.008. Epub 2021 Aug 23.

Authors

Affiliations

¹ Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
² Pathology and Medical Oncology Departments, Hospital Universitari Arnau de Vilanova, IRBLLEIDA, CIBERONC, University of Lleida, Lleida, Spain.
³ Gynecologic Medical Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
⁴ Radiology Department, Institut de Diagnòstic per la Imatge / Hospital Universitari Arnau de Vilanova, IRBLLEIDA, University of Lleida, Lleida, Spain.
⁵ Gynecologic Medical Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
⁶ Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA. Electronic address: [email protected].
⁷ Pathology and Medical Oncology Departments, Hospital Universitari Arnau de Vilanova, IRBLLEIDA, CIBERONC, University of Lleida, Lleida, Spain; Pathology Department, Hospital Universitaride Bellvitge, IDIBELL, University of Barcelona, Barcelona, Spain. Electronic address: [email protected].

Abstract

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.

Keywords: Cowden syndrome; Germline; PTEN mutation; Pathology; Targeted therapy.

Publication types

Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Endometrial Neoplasms / drug therapy
Endometrial Neoplasms / etiology*
Endometrial Neoplasms / genetics
Endometrial Neoplasms / pathology
Female
Hamartoma Syndrome, Multiple / complications*
Humans
Mutation*
PTEN Phosphohydrolase / antagonists & inhibitors
PTEN Phosphohydrolase / genetics*
PTEN Phosphohydrolase / physiology
Phosphatidylinositol 3-Kinases / physiology

Substances

PTEN Phosphohydrolase
PTEN protein, human

Grants and funding

P30 CA008748/CA/NCI NIH HHS/United States