Molecularly Classified Uterine FIGO Grade 3 Endometrioid Carcinomas Show Distinctive Clinical Outcomes But Overlapping Morphologic Features

Am J Surg Pathol. 2021 Mar 1;45(3):421-429. doi: 10.1097/PAS.0000000000001598.

Abstract

FIGO grade 3 endometrioid endometrial carcinoma (EEC) is a heterogenous group of tumors with variable molecular and clinicopathologic characteristics but is treated clinically as a single entity. There is a need for additional objective markers to help guide management. The aim of this study was to evaluate a cohort of FIGO grade 3 EEC to validate the prognostic impact of molecular classification using POLE mutation (POLE-mut) analysis and immunohistochemistry for p53 and mismatch repair proteins. A secondary aim was to assess for any morphologic or immunophenotypic correlates among the molecular groups. Ninety-five cases of FIGO grade 3 EEC who underwent a hysterectomy at our institution were identified. Ten tumors (11%) harbored POLE-mut, 35 tumors (37%) showed mismatch repair deficiency, 18 tumors (19%) showed aberrant p53 staining (p53-ab), and 26 cases (27%) lacked all of these findings and were classified as no specific molecular profile. Six separate cases harbored >1 abnormality (multiple classifier), 5 of which had POLE-mut. The POLE-mut group and multiple classifier group showed excellent clinical outcomes, the p53-ab group showed the worst clinical outcomes and the 2 remaining groups showed intermediate prognosis. While the POLE-mut tumors showed a statistically significant enrichment for morphologic features including serous-like atypia and lymphocytic infiltrates, these findings were seen across all 4 molecular groups. There was no correlation between molecular grouping and tumor immunophenotypic findings, but overall 18% and 24% of tumors were completely negative for PAX-8 and estrogen receptor, respectively. Five CTNNB1 mutations were identified, 3 of which occurred in the context of a POLE-mut (including 1 multiple classifier case with MLH1/PMS2 loss). Thus our study corroborates the prognostic impact of molecular classification of high-grade endometrioid carcinoma of the uterus, achieved by readily available immunohistochemical stains in addition to POLE-mut analysis.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / deficiency*
  • Biomarkers, Tumor / genetics*
  • Carcinoma, Endometrioid / classification
  • Carcinoma, Endometrioid / genetics*
  • Carcinoma, Endometrioid / mortality
  • Carcinoma, Endometrioid / pathology
  • DNA Mismatch Repair
  • DNA Mutational Analysis*
  • DNA Polymerase II / genetics
  • DNA Repair Enzymes / deficiency
  • Endometrial Neoplasms / classification
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / mortality
  • Endometrial Neoplasms / pathology
  • Female
  • Humans
  • Immunohistochemistry*
  • Middle Aged
  • Mutation
  • Neoplasm Grading
  • PAX8 Transcription Factor / analysis
  • Poly-ADP-Ribose Binding Proteins / genetics
  • Predictive Value of Tests
  • Tumor Suppressor Protein p53 / genetics
  • beta Catenin / genetics

Substances

  • Biomarkers, Tumor
  • CTNNB1 protein, human
  • PAX8 Transcription Factor
  • PAX8 protein, human
  • Poly-ADP-Ribose Binding Proteins
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • beta Catenin
  • DNA Polymerase II
  • POLE protein, human
  • DNA Repair Enzymes