Familial Cancer

, Volume 9, Issue 3, pp 383–387

High risk for neoplastic transformation of endometriosis in a carrier of lynch syndrome

  • Christine Nyiraneza
  • Etienne Marbaix
  • Mireille Smets
  • Christine Galant
  • Christine Sempoux
  • Karin Dahan
Article

DOI: 10.1007/s10689-010-9321-1

Cite this article as:
Nyiraneza, C., Marbaix, E., Smets, M. et al. Familial Cancer (2010) 9: 383. doi:10.1007/s10689-010-9321-1

Abstract

Lynch syndrome is an autosomal dominant cancer-susceptibility disorder caused by mutations in DNA mismatch repair genes. Women with Lynch syndrome have an increased lifetime risk for endometrial and ovarian cancers. While there is evidence of efficacy for prophylactic surgery, no standard recommendations have been developed to support screening for premalignant endometrial and ovarian epithelial lesions in high-risk women. Here, we report a case of a healthy woman carrying a germline mutation in MLH1 gene with endometrial intra-epithelial neoplasia and ovarian endometriotic lesions exhibiting a loss of MLH1 protein expression. This case report illustrates the malignant potential of endometriosis, and highlights the need for a meticulous management of gynecologic premalignant precursor lesions in reducing cancer risk among related Lynch syndrome women.

Keywords

Lynch syndromeMMR deficiencyEndometrial cancerOvarian cancerEndometriosisGenetic counselingCancer prevention

Abbreviations

HNPCC

Hereditary non-polyposis colorectal cancer

MMR

DNA mismatch repair system

MSI

Microsatellite instability

Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  • Christine Nyiraneza
    • 1
  • Etienne Marbaix
    • 2
  • Mireille Smets
    • 3
  • Christine Galant
    • 2
  • Christine Sempoux
    • 2
  • Karin Dahan
    • 1
    • 4
  1. 1.Center for Human Genetics, Cliniques universitaires Saint-LucUniversité catholique de LouvainBrusselsBelgium
  2. 2.Department of Pathology, Cliniques universitaires Saint-LucUniversité catholique de LouvainBrusselsBelgium
  3. 3.Department of Gynecology, Cliniques universitaires Saint-LucUniversité catholique de LouvainBrusselsBelgium
  4. 4.Center for Human GeneticsInstitute of Pathology and GeneticsGosseliesBelgium