Diagnosis and management of a recurrent polymerase-epsilon (POLE)-mutated endometrial cancer
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 mole...
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| Veröffentlicht in: | Gynecologic oncology 2019-06, Vol.153 (3), p.471-478 |
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| creator | Veneris, Jennifer Taylor Lee, Elizabeth K. Goebel, Emily A. Nucci, Marisa R. Lindeman, Neal Horowitz, Neil S. Lee, Larissa Raut, Chandrajit P. Crotzer, David Matulonis, Ursula Konstantinopoulos, Panagiotis A. Campos, Susana |
| description | 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.
•POLE mutations occur in 7–12% of endometrial cancers and are identified by molecular analysis.•POLE-mutated endometrial cancers have high tumor mutation burden, tumor neoantigen production, and tumor infiltrating T cells.•This case illustrates a marked response to immune checkpoint inhibition in a POLE-mutated endometrial cancer. |
| doi_str_mv | 10.1016/j.ygyno.2019.03.247 |
| format | Article |
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| ispartof | Gynecologic oncology, 2019-06, Vol.153 (3), p.471-478 |
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| language | eng |
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| source | ScienceDirect Journals (5 years ago - present) |
| title | Diagnosis and management of a recurrent polymerase-epsilon (POLE)-mutated endometrial cancer |
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