Diagnosis and management of a recurrent polymerase-epsilon (POLE)-mutated endometrial cancer

Jennifer Taylor Veneris; Elizabeth K Lee; Emily A Goebel; Marisa R Nucci; Neal Lindeman; Neil S Horowitz; Larissa Lee; Chandrajit P Raut; David Crotzer; Ursula Matulonis; Panagiotis A Konstantinopoulos; Susana Campos

doi:10.1016/j.ygyno.2019.03.247

Diagnosis and management of a recurrent polymerase-epsilon (POLE)-mutated endometrial cancer

Gynecol Oncol. 2019 Jun;153(3):471-478. doi: 10.1016/j.ygyno.2019.03.247. Epub 2019 Mar 29.

Authors

Affiliations

¹ Division of Gynecologic Oncology, Dana-Farber Cancer Institute, Boston, MA, United States of America; Harvard Medical School, Boston, MA, United States of America. Electronic address: [email protected].
² Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, United States of America.
³ Division of Women's and Perinatal Pathology, Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States of America.
⁴ Division of Women's and Perinatal Pathology, Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States of America; Harvard Medical School, Boston, MA, United States of America.
⁵ Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States of America; Harvard Medical School, Boston, MA, United States of America.
⁶ Gynecologic Oncology, Brigham and Women's Hospital and Dana-Farber Cancer Institute, Boston, MA, United States of America; Harvard Medical School, Boston, MA, United States of America.
⁷ Radiation Oncology, Brigham and Women's Hospital, Boston, MA, United States of America; Harvard Medical School, Boston, MA, United States of America.
⁸ Division of Surgical Oncology, Department of Surgery, Brigham and Women's Hospital and Dana-Farber Cancer Institute, Boston, MA, United States; Harvard Medical School, Boston, MA, United States of America.
⁹ Gynecologic Oncology, Nebraska Methodist Hospital, Omaha, NE, United States of America.
¹⁰ Division of Gynecologic Oncology, Dana-Farber Cancer Institute, Boston, MA, United States of America; Harvard Medical School, Boston, MA, United States of America.

PMID: 30935717
DOI: 10.1016/j.ygyno.2019.03.247

Abstract

Polymerase-epsilon (POLE)-mutated carcinomas are a rare, but well-known subtype of endometrial cancer. While typically associated with good prognosis, recurrences are documented. Here we present a case of recurrent POLE-mutated endometrial cancer, discuss pathologic features, current methods of molecular classification, and explore therapeutic implications for the POLE-mutation phenotype.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adenocarcinoma / diagnosis
Adenocarcinoma / genetics*
Adenocarcinoma / secondary
Adenocarcinoma / therapy*
Antibodies, Monoclonal, Humanized / administration & dosage
Antineoplastic Combined Chemotherapy Protocols
Carboplatin / administration & dosage
DNA Polymerase II / genetics*
Endometrial Neoplasms / genetics*
Endometrial Neoplasms / pathology
Endometrial Neoplasms / therapy
Female
Humans
Middle Aged
Mutation
Omentum / surgery
Paclitaxel / administration & dosage
Pancreatic Neoplasms / diagnosis
Pancreatic Neoplasms / secondary
Pancreatic Neoplasms / therapy*
Poly-ADP-Ribose Binding Proteins / genetics*
Stomach Neoplasms / diagnosis
Stomach Neoplasms / genetics
Stomach Neoplasms / secondary
Stomach Neoplasms / therapy*

Substances

Antibodies, Monoclonal, Humanized
Poly-ADP-Ribose Binding Proteins
Carboplatin
pembrolizumab
DNA Polymerase II
POLE protein, human
Paclitaxel