A review of the uptake and clinical utility of miss match repair gene immunohistochemistry in women with endometrial cancer: A retrospective study

Project brief

Endometrial cancer is the commonest gynecological malignancy in New Zealand. The disease is normally sporadic but may be a manifestation of an inherited susceptibility to cancer called lynch syndrome. This syndrome is characterized by mutation of certain miss match repair (MMR) genes. Abnormal expression of these genes can be detected within these tumours by imunohistolochemical tests. It is our intended practice to perform MMR immunohistochemistry in women under 60 with endometrial cancer and women with a personal or family history of other lynch related cancers. Immunohistochemistry must be considered a screening test if abnormal further tests are required and if these are indicative genetic testing is required to confirm Lynch syndrome.

In this study we wish to review the impact of this policy. We will retrospectively review all women treated for endometrial cancer under the age of 60 at Christchurch womens hospital in the previous 2 years. We will determine what proportion of those with endometrial tumours had MMR immunohistochemistry. For those that did we will review what proportion were abnormal and for those that were abnormal what proportion had subsequent abnormal tests and ultimately how many were referred for genetic testing and were diagnosed with Lynch syndrome.

Other New Zealand centers have expressed an interest in performing parallel studies and combining the data. We will work with collaborating centers to provide an overview of NZ practice and a measure of the clinical utility of this testing. This study will inform NZ practice and likely form the basis of practice guidelines within NZ.

The summer student will be responsible for performing a literature review collecting the data and liaising with collaborating centers and preparing a report. We hope to prepare an article for publication.