POLE-Ultramutated Endometrial Endometrioid Adenocarcinoma

Preferred Label : POLE-Ultramutated Endometrial Endometrioid Adenocarcinoma;

NCIt synonyms : POLE-Ultra-Mutated Endometrial Endometrioid Adenocarcinoma; POLE-Ultra-Mutated Endometrial Endometrioid Carcinoma; POLE-Ultramutated Endometrial Endometrioid Carcinoma;

NCIt 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.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1663057;

Details

Origin ID

C180512;

UMLS CUI

C5556431;

Disease excludes abnormal cell
- Malignant Squamous Cell [NCIt concept]
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
- Neoplastic Squamous Cell [NCIt concept]
- Serous Adenocarcinoma Cell [NCIt concept]
Disease may have findings
- Metrorrhagia [NCIt concept]
- Postmenopausal Hemorrhage [NCIt concept]
Has associated anatomic sites
- Corpus Uteri [NCIt concept]
- Endometrial Cavity [NCIt concept]
- Female Reproductive System [NCIt concept]
- Genitourinary System [NCIt concept]
- Reproductive System [NCIt concept]
- Uterus [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Mixed Neoplastic Glandular and Squamous Cell Population [NCIt concept]
disease_has_abnormal_cell
- Adenocarcinoma Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
- Neoplastic Glandular Cell [NCIt concept]
disease_has_finding
- Carcinomatous Component Present [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Neoplastic Glandular Epithelium Resembling the Normal Endometrium Present [NCIt concept]
disease_has_molecular_abnormality
- POLE Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Endometrial Glandular Cell [NCIt concept]
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Endometrium [NCIt concept]
- Epithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Corpus Uteri [NCIt concept]
- Endometrial Cavity [NCIt concept]
- Female Reproductive System [NCIt concept]
- Genitourinary System [NCIt concept]
- Uterus [NCIt concept]
disease_may_have_associated_disease
- Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia [NCIt concept]
disease_may_have_molecular_abnormality
- CTNNB1 Gene Mutation [NCIt concept]
- KRAS Gene Amplification [NCIt concept]
- PTEN Gene Inactivation [NCIt concept]

Keyword's position in hierarchy(ies) :

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