Microsatellite instability analysis for the screening of synchronous endometrial and ovarian cancer in Lynch syndrome

Anticancer Res. 2013 Sep;33(9):3977-81.

Abstract

We report on a case of synchronous endometrial and ovarian cancer in a patient with Lynch syndrome. An endometrial biopsy performed during routine screening revealed microsatellite instability (MSI) and loss of expression of human mutL homolog-1 (MLH1) and postmeiotic segregation increased-2 (PMS2) in a setting of complex hyperplasia. Whereas gynaecological screening including clinical examination, pelvic ultrasound, and endometrial biopsy, has not proven its benefit, our case report points out the place of MSI analysis and immunohistochemical investigation of mismatch repair protein expression in endometrial samples during gynaecological screening.

Keywords: Lynch syndrome; endometrial cancer; microsatellite instability; ovarian cancer; synchronous tumour.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adult
  • Colorectal Neoplasms, Hereditary Nonpolyposis / complications*
  • DNA Mismatch Repair
  • Endometrial Neoplasms / complications
  • Endometrial Neoplasms / diagnosis*
  • Endometrial Neoplasms / surgery
  • Female
  • Genetic Testing / methods*
  • Humans
  • Microsatellite Instability*
  • MutL Protein Homolog 1
  • Nuclear Proteins / genetics
  • Ovarian Neoplasms / complications
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / surgery

Substances

  • Adaptor Proteins, Signal Transducing
  • MLH1 protein, human
  • Nuclear Proteins
  • MutL Protein Homolog 1