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.
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