title: The gynecological surveillance of women with Lynch syndrome in Sweden.
abstract: OBJECTIVE
  Women with Lynch syndrome (LS) have up to a 60% lifetime risk of endometrial cancer (EC) and up to a 24% risk of ovarian cancer (OC). Gynecological surveillance is recommended, but the benefit and how it should be performed remain unclear. The purpose of this study was to assess diagnostic modalities for gynecological screening of LS patients in Sweden and clinical outcome.
  
  
  METHODS
  A retrospective nationwide study of 170 women with molecularly confirmed LS. Data including gynecological LS screening history, biopsy results (if any), genetic records, number of screening visits, results from screening including transvaginal ultrasound (TVUS), endometrial biopsy (EB), blood test for tumor marker cancer antigen (CA) 125, prophylactic surgery including age at procedure, and setting from which screening data were obtained from medical records.
  
  
  RESULTS
  A total of 117 women were eligible for gynecological screening and of these, 86 patients attended screening visits. Of these, 41 underwent prophylactic hysterectomy and/or bilateral salpingo-oophorectomy. Two patients (4.9%) were diagnosed with EC and two (4.9%) with precancerous lesions in conjunction with prophylactic surgery. Total incidence of gynecological cancer in the surveillance group (45 women) was 20% EC, 4% OC. Five patients had endometrial cancer or complex hyperplasia with atypia (n=2) detected by endometrial biopsy. Four additional cases were detected due to interval bleeding. Both cases of ovarian cancer were detected by transvaginal ultrasound in patients with ovarian cysts under surveillance. The youngest woman with endometrial cancer was diagnosed at 35 years of age, before she was aware of her diagnosis of Lynch syndrome.
  
  
  CONCLUSIONS
  Gynecological surveillance of women with Lynch syndrome may lead to earlier detection of precancerous lesions, which might have some impact on the morbidity from endometrial cancer although further studies are needed to prove this. Prophylactic hysterectomy with or without bilateral salpingo-oophorectomy reduces the cancer incidence. A practical approach to surveillance in Lynch syndrome women would be to offer annual surveillance beginning at age 30 years including probably both TVUS and EB in order to increase diagnostic yield with prospective data registry for follow-up studies. Prophylactic surgery could be performed at a suitable age after childbearing to obtain a balance between reducing the risk of cancer and minimizing long-term complications from premature menopause.
authors.affiliation: Department of Women's and Children's Health, Division of Obstetrics and Gynecology, Karolinska Institutet, Karolinska University Hospital, Solna, S-171 76 Stockholm, Sweden.
authors.forename: Gerasimos
authors.initials: G
authors.lastname: Tzortzatos
authors.affiliation: Department of Women's and Children's Health, Division of Obstetrics and Gynecology, Karolinska Institutet, Karolinska University Hospital, Solna, S-171 76 Stockholm, Sweden.
authors.forename: Emil
authors.initials: E
authors.lastname: Andersson
authors.affiliation: Department of Clinical Genetics, Skåne University Hospital, 21428 Malmo-Lund, Sweden.
authors.forename: Maria
authors.initials: M
authors.lastname: Soller
authors.affiliation: Department of Clinical Pathology and Clinical Genetics, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, Sweden; Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, Sweden.
authors.forename: Marie Stenmark
authors.initials: MS
authors.lastname: Askmalm
authors.affiliation: Department of Clinical Genetics, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden.
authors.forename: Theofanis
authors.initials: T
authors.lastname: Zagoras
authors.affiliation: Department of Clinical Genetics, Akademiska Hospital, Uppsala University, 75185 Uppsala, Sweden.
authors.forename: Patrik
authors.initials: P
authors.lastname: Georgii-Hemming
authors.affiliation: Department of Clinical Genetics, Karolinska Institutet, Karolinska University Hospital, Solna, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, 171 76 Stockholm, Sweden.
authors.forename: Annika
authors.initials: A
authors.lastname: Lindblom
authors.affiliation: Department of Clinical Genetics, Karolinska Institutet, Karolinska University Hospital, Solna, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, 171 76 Stockholm, Sweden.
authors.forename: Emma
authors.initials: E
authors.lastname: Tham
authors.affiliation: Department of Women's and Children's Health, Division of Obstetrics and Gynecology, Karolinska Institutet, Karolinska University Hospital, Solna, S-171 76 Stockholm, Sweden. Electronic address: miriam.mints@ki.se.
authors.forename: Miriam
authors.initials: M
authors.lastname: Mints
mesh_terms: D000328:Adult; D000368:Aged; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D055088:Early Detection of Cancer / Q000379:methods; D016889:Endometrial Neoplasms / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D012189:Retrospective Studies; D013548:Sweden / Q000453:epidemiology
keywords: Endometrial cancer; Lynch syndrome; Ovarian cancer; Screening