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Molecular classification of endometrial carcinoma: a clinically oriented review
  1. Mikko Loukovaara1,
  2. Annukka Pasanen2,
  3. Ralf Bützow2
  1. 1Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
  2. 2Department of Pathology, Helsinki University Hospital and Research Program in Applied Tumor Genomics, Faculty of Medicine, University of Helsinki, Helsinki, Finland
  1. Correspondence to Dr Mikko Loukovaara, Department of Obstetrics and Gynecology, University of Helsinki, Helsinki, Finland; mikko.loukovaara{at}hus.fi

Abstract

The Cancer Genome Atlas research network performed a genome-wide analysis of endometrial carcinomas in 2013 and classified tumours into four distinct subgroups: polymerase-ϵ ultramutated, microsatellite unstable hypermutated, copy-number low and copy-number high. These molecular alterations are mostly mutually exclusive as only about 3% of tumours exhibit more than one molecular signature. Apart from the polymerase-ϵ ultramutated subgroup, molecular classification can be reproduced by using surrogate markers. This has facilitated the implementation of molecular diagnostics into routine patient care. Molecular subgroups are associated with different prognoses; thus, improved risk assessment is their most obvious clinical application. However, based on their unique molecular architectures, molecular subgroups should not be regarded simply as risk groups but rather as distinct diseases. This has prompted us and others to examine the role of molecular subgroups in modifying the prognostic effect of traditional risk factors, including clinical factors, uterine factors and tissue biomarkers, and in predicting the response to adjuvant therapies. In the following review, we summarise the current knowledge of molecularly classified endometrial carcinoma and present, based on our own experience, a proposal for implementing molecular classification into daily practice in pathology laboratories.

  • carcinoma
  • endometrium
  • uterus

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Footnotes

  • Handling editor Runjan Chetty.

  • Contributors All authors contributed equally to the development of this review.

  • Funding Our research associated with this review was supported by Helsinki University Hospital research funds (TYH2020302) and Cancer Foundation Finland.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.