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Initiation of molecular testing of endometrial carcinomas in a population-based setting: practical considerations and pitfalls

  • 0Department of Pathology, Virgen Macarena University Hospital, Seville, Spain.
Histopathology +

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November 29, 2024

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November 29, 2024

View abstract on PubMed

Summary

This summary is machine-generated.

Implementing molecular classification for endometrial carcinomas in Northern Ireland revealed the prevalence of The Cancer Genome Atlas (TCGA) groups. This approach allows for tailored patient management based on molecular profiles, improving treatment strategies.

Area Of Science

  • Oncology
  • Genomics
  • Pathology

Background

  • The Cancer Genome Atlas (TCGA) molecular classification of endometrial carcinomas, established in 2013, is crucial for prognosis and treatment.
  • Implementation of TCGA classification varies across institutions due to resource and testing availability.
  • Controversies exist regarding universal molecular testing and the use of surrogates like the ProMisE Classifier.

Purpose Of The Study

  • To report the experience of instigating molecular classification for endometrial carcinomas in Northern Ireland.
  • To assess the feasibility and prevalence of TCGA molecular groups in an unselected population.
  • To demonstrate the integration of molecular classification into routine pathology reporting.

Main Methods

  • Genomic analysis using a custom next-generation sequencing (NGS) panel for POLE and TP53 genes, and microsatellite instability (MSI) analysis.
  • Immunohistochemical staining for estrogen receptor (ER), p53, and mismatch repair (MMR) proteins (MLH1, PMS2, MSH2, MSH6).
  • Molecular results were obtained from biopsies and integrated into final reports for surgical specimens.

Main Results

  • 262 endometrial carcinomas were successfully molecularly tested.
  • Prevalence of TCGA groups: POLEmut (7.3%), MMRd (24%), p53abn (23.7%), and no specific molecular profile (NSMP) (45%).
  • 6.5% of tumors were classified as 'multiple-classifiers', with specific subgroupings.

Conclusions

  • This study provides population-based data on TCGA molecular group prevalence in endometrial carcinomas.
  • Performing molecular testing on biopsies enables personalized patient management.
  • This experience can guide other laboratories in adopting TCGA molecular classification for endometrial cancer.

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