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  • Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry

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Original research
Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry
  1. Surabhi Gupta1,
  2. Cassandra B Nichols2,
  3. Jessica Phillips1,
  4. Sarah O'Sullivan2,3,
  5. Chloe Ayres1,
  6. Ganendra Raj Mohan1,4,
  7. Yee Leung1,5,
  8. Colin J.R. Stewart6,
  9. Adeline Tan7,
  10. Lyn Schofield2,
  11. Stuart G Salfinger4,
  12. Catherine Kiraly-Borri2,
  13. Nicholas Pachter2,8 and
  14. Paul A Cohen1,4,5
  1. 1 Department of Gynaecological Oncology, King Edward Memorial Hospital, Subiaco, Western Australia, Australia
  2. 2 Genetic Services of Western Australia, Subiaco, Western Australia, Australia
  3. 3 WOMEN Centre, West Leederville, Western Australia, Australia
  4. 4 Department of Gynaecological Oncology, St John of God Hospital Bendat Family Comprehensive Cancer Centre, Subiaco, Western Australia, Australia
  5. 5 Division of Obstetrics and Gynaecology, Faculty of Health and Medical Sciences, University of Western Australia, Crawley, Western Australia, Australia
  6. 6 PathWest, King Edward Memorial Hospital, Subiaco, Western Australia, Australia
  7. 7 Clinipath Pathology, Osborne Park, Western Australia, Australia
  8. 8 Internal Medicine, University of Western Australia, Crawley, Western Australia, Australia
  1. Correspondence to Dr Paul A Cohen, Department of Gynaecological Oncology, St John of God Hospital Bendat Family Comprehensive Cancer Centre, Subiaco, Australia; paul.cohen{at}uwa.edu.au

Abstract

Background In 2016 universal screening with mismatch repair protein immunohistochemistry in all newly diagnosed endometrial carcinomas was introduced in Western Australia.

Objective To compare the prevalence of Lynch syndrome associated endometrial carcinomas between 2016 and 2019 with a historical control (2015). Additionally, to compare the number of cases appropriately referred for genetic assessment.

Methods A cross-sectional study of cases presented at the Western Australia gynecologic oncology tumor board was carried out. The primary outcome was the prevalence of Lynch syndrome associated endometrial carcinomas. A secondary outcome was the number of cases appropriately referred for genetic assessment. The following variables were extracted: date of birth; age at diagnosis; vital status; tumor mismatch repair protein expression status (retained or lost) and if lost, the specific mismatch repair protein deficiency; patients who were referred to a genetic clinic; and family history, if recorded. Data were collected from the clinical databases of the Familial Cancer Program at Genetic Services of Western Australia and WOMEN Center, to determine whether patients were appropriately referred for genetic evaluation and to ascertain the results of genetic testing.

Results Between 2016 and 2019, there were 1040 new endometrial carcinomas. Tumors of 883 (85%) patients underwent mismatch repair protein immunohistochemistry compared with 117 of 199 patients (59%) in 2015 (χ2 73.14, p<0.001). Of 883 tumors tested, 242 (27%) showed loss of mismatch repair protein expression. In 2015, 30 (26%) tumors of 117 tested showed loss of mismatch repair protein expression. During the 4 years of universal screening, 13 (1.5%) of 883 patients screened were diagnosed with Lynch syndrome compared with 2 (1.7%) of 117 in 2015 (Fisher's exact test 0.04, p=0.69). In 2015, 11 (37%) of 30 patients with loss of mismatch repair protein expression were not referred for genetic assessment compared with 36 (17%) of 209 patients in the universal screening group (χ2 6.28, p=0.02). No cases of Lynch syndrome were diagnosed in patients aged over 70 years.

Conclusions Universal immunohistochemical screening did not increase the proportion of Lynch syndrome associated endometrial carcinomas identified, although the study was underpowered to detect small differences. There was an improvement in appropriate referrals for genetic assessment.

  • lynch syndrome II
  • endometrial neoplasms

Data availability statement

No data are available.

https://doi.org/10.1136/ijgc-2020-002299

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    Data availability statement

    No data are available.

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    Footnotes

    • Contributors Study concept and design: All authors. Data acquisition: SG, CBN, JP, SOS. Statistical analysis: PAC. Manuscript preparation: PAC, SG, CBN. Editing and revising the manuscript for critically important intellectual content: all authors. All authors read and approved the final manuscript, gave final approval of the version to be published; and agree to be accountable for all aspects of the work.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests PAC declares honoraria from Astra Zeneca and Seqirus unrelated to the submitted work. SGS declares advisory roles with Johnson and Johnson, and Baxter, and a teaching appointment with Medtronic.

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

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.