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POLE-Ultramutated Endometrial Endometrioid Adenocarcinoma

MedGen UID:
1792872
•Concept ID:
C5556431
•
Neoplastic Process
Synonyms: POLE-Ultra-Mutated Endometrial Endometrioid Adenocarcinoma; POLE-Ultra-Mutated Endometrial Endometrioid Carcinoma; POLE-Ultramutated Endometrial Endometrioid Carcinoma

Definition

An endometrial endometrioid adenocarcinoma characterized by mutations in the exonuclease domain of the DNA polymerase epsilon (POLE) gene that result in an ultra-mutated tumor phenotype. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPOLE-Ultramutated Endometrial Endometrioid Adenocarcinoma

Professional guidelines

PubMed

Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article
Selecting Adjuvant Treatment for Endometrial Carcinoma Using Molecular Risk Factors.
Wortman BG, Nout RA, Bosse T, Creutzberg CL
Curr Oncol Rep 2019 Jul 31;21(9):83. doi: 10.1007/s11912-019-0825-z. PMID: 31367798Free PMC Article

Recent clinical studies

Etiology

High-grade endometrial carcinomas: Morphologic spectrum and molecular classification.
Zhang C, Zheng W
Semin Diagn Pathol 2022 May;39(3):176-186. Epub 2021 Nov 20 doi: 10.1053/j.semdp.2021.11.002. PMID: 34852949
Molecular characterization of endometrial cancer and therapeutic implications.
Winterhoff B, Thomaier L, Mullany S, Powell MA
Curr Opin Obstet Gynecol 2020 Feb;32(1):76-83. doi: 10.1097/GCO.0000000000000602. PMID: 31851045
Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article
Reclassifying endometrial carcinomas with a combined morphological and molecular approach.
Carlson J, McCluggage WG
Curr Opin Oncol 2019 Sep;31(5):411-419. doi: 10.1097/CCO.0000000000000560. PMID: 31261170
Molecular characterization of endometrial cancer and therapeutic implications.
Chang Z, Talukdar S, Mullany SA, Winterhoff B
Curr Opin Obstet Gynecol 2019 Feb;31(1):24-30. doi: 10.1097/GCO.0000000000000508. PMID: 30507624

Diagnosis

High-grade endometrial carcinomas: Morphologic spectrum and molecular classification.
Zhang C, Zheng W
Semin Diagn Pathol 2022 May;39(3):176-186. Epub 2021 Nov 20 doi: 10.1053/j.semdp.2021.11.002. PMID: 34852949
Molecular characterization of endometrial cancer and therapeutic implications.
Winterhoff B, Thomaier L, Mullany S, Powell MA
Curr Opin Obstet Gynecol 2020 Feb;32(1):76-83. doi: 10.1097/GCO.0000000000000602. PMID: 31851045
Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article
Reclassifying endometrial carcinomas with a combined morphological and molecular approach.
Carlson J, McCluggage WG
Curr Opin Oncol 2019 Sep;31(5):411-419. doi: 10.1097/CCO.0000000000000560. PMID: 31261170
Molecular Genetics of Endometrial Carcinoma.
Bell DW, Ellenson LH
Annu Rev Pathol 2019 Jan 24;14:339-367. Epub 2018 Oct 17 doi: 10.1146/annurev-pathol-020117-043609. PMID: 30332563

Therapy

Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article
Selecting Adjuvant Treatment for Endometrial Carcinoma Using Molecular Risk Factors.
Wortman BG, Nout RA, Bosse T, Creutzberg CL
Curr Oncol Rep 2019 Jul 31;21(9):83. doi: 10.1007/s11912-019-0825-z. PMID: 31367798Free PMC Article

Prognosis

High-grade endometrial carcinomas: Morphologic spectrum and molecular classification.
Zhang C, Zheng W
Semin Diagn Pathol 2022 May;39(3):176-186. Epub 2021 Nov 20 doi: 10.1053/j.semdp.2021.11.002. PMID: 34852949
Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article
Interpretation of somatic POLE mutations in endometrial carcinoma.
León-Castillo A, Britton H, McConechy MK, McAlpine JN, Nout R, Kommoss S, Brucker SY, Carlson JW, Epstein E, Rau TT, Bosse T, Church DN, Gilks CB
J Pathol 2020 Mar;250(3):323-335. Epub 2020 Jan 29 doi: 10.1002/path.5372. PMID: 31829442Free PMC Article
Molecular characterization of endometrial cancer and therapeutic implications.
Chang Z, Talukdar S, Mullany SA, Winterhoff B
Curr Opin Obstet Gynecol 2019 Feb;31(1):24-30. doi: 10.1097/GCO.0000000000000508. PMID: 30507624
Molecular Genetics of Endometrial Carcinoma.
Bell DW, Ellenson LH
Annu Rev Pathol 2019 Jan 24;14:339-367. Epub 2018 Oct 17 doi: 10.1146/annurev-pathol-020117-043609. PMID: 30332563

Clinical prediction guides

High-grade endometrial carcinomas: Morphologic spectrum and molecular classification.
Zhang C, Zheng W
Semin Diagn Pathol 2022 May;39(3):176-186. Epub 2021 Nov 20 doi: 10.1053/j.semdp.2021.11.002. PMID: 34852949
Analysis of the immune checkpoint V-domain Ig-containing suppressor of T-cell activation (VISTA) in endometrial cancer.
Zong L, Mo S, Sun Z, Lu Z, Yu S, Chen J, Xiang Y
Mod Pathol 2022 Feb;35(2):266-273. Epub 2021 Sep 7 doi: 10.1038/s41379-021-00901-y. PMID: 34493823
Molecular characterization of endometrial cancer and therapeutic implications.
Winterhoff B, Thomaier L, Mullany S, Powell MA
Curr Opin Obstet Gynecol 2020 Feb;32(1):76-83. doi: 10.1097/GCO.0000000000000602. PMID: 31851045
Interpretation of somatic POLE mutations in endometrial carcinoma.
León-Castillo A, Britton H, McConechy MK, McAlpine JN, Nout R, Kommoss S, Brucker SY, Carlson JW, Epstein E, Rau TT, Bosse T, Church DN, Gilks CB
J Pathol 2020 Mar;250(3):323-335. Epub 2020 Jan 29 doi: 10.1002/path.5372. PMID: 31829442Free PMC Article
Molecular Genetics of Endometrial Carcinoma.
Bell DW, Ellenson LH
Annu Rev Pathol 2019 Jan 24;14:339-367. Epub 2018 Oct 17 doi: 10.1146/annurev-pathol-020117-043609. PMID: 30332563

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