TCGA category | Molecular classification | Molecular features (diagnostic tests) | Pathology features | Clinical features | Outcomes | Treatment options |
POLE "ultramutated" (approximately 7% of TCGA) | POLEmut (approximately 7 to 9% of all ECs) |
| Commonly high grade, LVSI, aggressive features, "ambiguous morphology" prominent TIL, EEC G3-2-1* but can be any | Presents in younger, often thinner women | Highly favorable (>96% five-year survival) |
|
MSI "hypermutated" (approximately 28% of TCGA) | MMRd (26 to 30% of all ECs) |
| LVSI and higher grade, prominent TIL, MELF, EEC G2/3-1* but can be any | Lynch syndrome association | Intermediate |
|
Copy-number low (approximately 39% of TCGA) | NSMP (45 to 50% of all ECs) |
| Squamous differentiation, low TIL, mostly low-grade EEC G1-2-3* | Often presents in younger individuals with higher BMI or exogenous estrogen | Intermediate-favorable |
|
Copy-number high (approximately 26% of TCGA) | p53abn (13 to 18% of all ECs) |
| LVSI, high cytonuclear atypia, mostly high grade, mostly serous but approximately 25% EEC G3 | Presents in older, thinner, women; commonly advanced stage | Poor (approximately 50% five-year survival) |
|
ARID1A: AT-rich interaction domain 1A; BMI: body mass index; CTNNB1: catenin beta 1; EC: endometrial cancer; EDM: exonuclease domain mutations; EEC: endometrioid endometrial cancer; ER: estrogen receptor; FBXW7: F-box and WD repeat domain containing 7; G: grade; HER2: human epidermal growth factor receptor 2; HRD: homologous recombination deficiency; IHC: immunohistochemistry; LVSI: lymphovascular space invasion; Mb: megabase; MELF: microcystic elongated and fragmented; MLH1: mutL homolog 1; MMRd: mismatch repair deficient; MSH2: mutL homolog 2; MSH6: mutL homolog 6; MSI: microsatellite instability; mTOR: mechanistic target of rapamycin; mut: mutation; NSMP: no specific molecular profile; p53abn: abnormal p53 expression on immunohistochemistry; PI3K: phosphoinositide 3-kinase; PIK3CA: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; PMS2: postmeiotic segregation 2; POLE: DNA polymerase epsilon, catalytic subunit; PPP2R1A: protein phosphatase 2, structural/regulatory subunit alpha; PR: progesterone receptor; PTEN: phosphatase and tensin homolog; SCNA: somatic copy number alteration; TCGA: The Cancer Genome Atlas; TIL: tumor-infiltrating lymphocytes; TMB: tumor mutational burden; TP53: tumor protein 53.
* In order of frequency.Courtesy of Jessica McAlpine, MD, and Jutta Huvila, MD, PhD.
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