[Lynch syndrome and endometrial cancer]

Bull Cancer. 2017 Dec;104(12):1013-1021. doi: 10.1016/j.bulcan.2017.06.018. Epub 2017 Oct 21.
[Article in French]

Abstract

Lynch syndrome is a hereditary predisposition to many tumors, in the forefront of which endometrial cancer in women. It is related to the mutation of a mismatch repair gene, involved in DNA mismatch repair. This mutation leads to a loss of expression of the corresponding protein, and to genome instability in tumor cells. Cumulative risk at the age of 70 years is over 40 %. Endometrial cancers related to Lynch syndrome are most of the time sentinel (They reveal the predisposition in half of families.) and are characterized by young age at onset (before 60 years) and low body mass index compared with patients presenting sporadic tumors. Pathological tumor characteristics are debated but it seems to be two types of tumors according to age, older patients having standard tumors and younger ones more aggressive pattern. Endometrial cancers related to Lynch syndrome can be synchronous of ovarian cancer. Therapeutic management does not present any particularity. Conservative treatment can be considered more frequently due to young age of patients but has to respect usual guidelines. Prognosis of these tumors is controversial. Gynaecological screening, although its benefit has not been proved, appears crucial in this population, as well as prophylactic surgery, which remains the best prevention.

Keywords: Cancer de l’endomètre; Caractéristiques clinicopathologiques; Clinicopathological characteristics; Endometrial cancer; HNPCC; Instabilité des microsatellites; Lynch syndrome; Microsatellite instability; MisMatch Repair.

Publication types

  • Review

MeSH terms

  • Age Factors
  • Aged
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / therapy
  • DNA Mismatch Repair*
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / pathology
  • Endometrial Neoplasms / therapy
  • Female
  • Humans
  • Microsatellite Instability
  • Middle Aged
  • Mutation