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Grand Rounds

Should Women with Endometrial Cancer Receive Universal Screening for Lynch Syndrome?

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BACKGROUND AND PURPOSE:

  • Lynch syndrome is inherited in an autosomal dominant pattern that predisposes to certain cancers (see ‘Related ObG Topics’ below)
  • While most commonly known for its association with colon cancer, women often present with endometrial cancer
  • Lynch syndrome screening includes
    • Tumor-based test: Immunohistochemistry (IHC) testing to identify mismatch repair (MMR) protein deficiency | Microsatellite instability (MSI) testing
    • If above positive: Germline testing to find a pathogenic variant in one of the MMR genes
  • Experts have called for universal screening for Lynch syndrome in women with endometrial cancer
  • Ryan et al. (Genetics in Medicine, 2019) investigated the outcomes of testing for Lynch syndrome in endometrial cancer patients
    • What proportion of endometrial cancer patients would likely need to receive definitive germline testing for variants following initial tests?
    • What proportion of these patients would be confirmed to have LS using next-generation sequencing (NGS)?

METHODS:

  • Systematic review
  • Inclusion criteria
    • Studies investigating Lynch syndrome in women with endometrial cancer
    • English language | females >18 years
    • Studies that used either direct germline analysis for pathogenic variants of MMR genes or other molecular diagnostic methods
  • Data analysis
    • Proportions of test positivity were calculated by random and fixed-effects meta-analysis models

RESULTS:

  • 53 studies included | 12,633 EC patients
  • Overall proportion of endometrial tumors with
    • MSI: 0.27 (95% CI, 0.25–0.28)
    • MMR deficiency with IHC: 0.26 (95% CI, 0.25–0.27)
    • 0.29 of women with abnormal tumor testing had pathogenic variants on germline testing (95% CI, 0.25–0.33)
  • Preselection (e.g., age or other clinical findings) did not significantly alter the results)

CONCLUSION:

  • Approximately 3% of endometrial cancers are caused by Lynch syndrome
    • This prevalence is similar to that found in colorectal cancers
  • The data from this study supports implementation of universal Lynch screening in women with endometrial cancer
  • With knowledge of Lynch syndrome diagnosis
    • Women can be placed in to colorectal cancer surveillance programs
    • Cascade testing can be offered to family members

Learn More – Primary Sources:

The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis

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Related ObG Topics:

Ovarian or Endometrial Cancer? Consider Lynch Syndrome
Is there a Genetic Link between Lynch Syndrome and Breast Cancer?
What Percentage of Individuals under 50 Years of Age with Colon Cancer Have Mutations Associated with Heritable Cancer?

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