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Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study
  1. Léa Rossi, MD*,,
  2. Marie-Aude Le Frere-Belda, MD, PhD,
  3. Pierre Laurent-Puig, MD, PhD,§,
  4. Bruno Buecher, MD, PhD,
  5. Antoine De Pauw, MD, PhD,
  6. Dominique Stoppa-Lyonnet, MD, PhD,,
  7. Geoffroy Canlorbe, MD#,
  8. Olivier Caron, MD**,
  9. Bruno Borghese, MD, PhD††,‡‡,§§,
  10. Chrystelle Colas, MD∥∥,
  11. Hélène Delhomelle, MD¶¶,
  12. Nathalie Chabbert-Buffet, MD, PhD##,
  13. Sophie Grandjouan, MD***,
  14. Fabrice Lecuru, MD, PhD*, and
  15. Anne-Sophie Bats, MD, PhD*,
  1. *Department of Gynaecological and Breast Cancer Surgery, Hôpital Européen Georges-Pompidou, Assistance Publique des Hopitaux de Paris (APHP);
  2. Medical School, Paris Descartes University, Sorbonne Paris Cité;
  3. Pathology and
  4. §Genetics, Hôpital Européen Georges-Pompidou;
  5. Department of Tumour Biology, Curie Institute;
  6. INSERM U830, University Paris Descartes, Sorbonne Paris Cité; and
  7. #Department of Obstetrics and Gynaecology, Tenon University Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris;
  8. **Department of Oncogenetics, Gustave Roussy Institute, Villejuif; and
  9. ††Institut Cochin, University Paris Descartes, Sorbonne Paris Cite, CNRS (UMR 8104);
  10. ‡‡INSERM U1016;
  11. §§University Paris Descartes, Sorbonne Paris Cite, Department of Gynaecology, Obstetrics, and Reproductive Medicine, Hôpital Cochin, Hopitaux Universitaires Paris Centre, AP-HP;
  12. ∥∥Department of Genetics, Pitié-Salpêtrière Hospital;
  13. ¶¶Genetics, Hôpital Saint-Antoine;
  14. ##Gynaecology and Obstetrics, Hôpital Tenon; and
  15. ***Department of Digestive Diseases and Oncogenetics, APHP, Cochin Hospital, Paris, France.
  1. Address correspondence and reprint requests to Léa Rossi, MD, Hôpital Européen Georges Pompidou, 20 rue Leblanc, 75015 Paris, France. E-mail:


Background Limited data exist on Lynch syndrome (LS)–related endometrial cancer (EC) features. Amsterdam criteria II, commonly used, have poor sensitivity for detection of LS, which is underdiagnosed.

Aim The aim of this study was to describe the clinical and pathological features of LS-related EC among mutation-proven patients.

Methods We conducted a retrospective study from 1977 to 2013 in 5 hospitals. The inclusion criteria were patients who had a primary EC associated to LS proven by a germline mutation. We analyzed the clinical data and the pathology of the tumors. The patient management and the survival data were also collected.

Results Forty-nine patients (15 MLH1, 20 MSH2, 13 MSH6, 1 PMS2) were included. The mean age at diagnosis was 49.7 (SD, 10.5) years. The median body mass index was 22.6 kg/m2. In 81.4% of cases, EC was the first cancer of the LS spectrum to occur. Endometrioid adenocarcinoma accounted for 89.2% of the EC, the lower uterine segment was involved in 25% of cases, and a synchronous ovarian cancer was present in 21.6% of patients. The tumors were grade 3 in 19.3% of cases and FIGO (International Federation of Gynecology and Obstetrics) stage I in 66.6% of cases. With a median follow-up of 58 months, 3 patients with conservative management developed a recurrence, and no patient died of EC.

Conclusions The LS-associated EC is characterized by a young age at onset, a high prevalence of lower uterine segment involvement, and synchronous ovarian cancers. The prognosis of these cancers does not appear different from sporadic tumors.

  • Endometrial cancer
  • Lynch syndrome
  • Pathological characteristics
  • Prognosis
  • Screening

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  • The authors declare no conflicts of interest.