A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families

Auranen, Annika; Joutsiniemi, Titta

doi:10.1111/j.1600-0412.2011.01091.x

Cited by 102 publications

(75 citation statements)

References 26 publications

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“…Recommended surveillance includes: colonoscopy every 1-2 years starting at age 25 (or 5 years younger than the youngest affected family member if <30 years), 2 yearly upper endoscopy starting age 30 in families with gastric cancer or at high ethnic risk. While some guidelines recommend annual per vaginal speculum examination, pelvic ultrasound, CA-125 analysis, and urinalysis, there is currently no high-level evidence for benefit (Auranen and Joutsiniemi, 2011;Vasen et al, 2013). Surveillance for other Lynch-associated cancers is not recommended outside of clinical trials, due to low sensitivity and specificity of currently available investigations (Rubenstein et al, 2015;Stoffel and Kastrinos, 2014;Vasen et al, 2013).…”

Section: Rev Ised Bethesda Guidelinesmentioning

confidence: 99%

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing

Ryan

Sheahan

Creavin

et al. 2017

Critical Reviews in Oncology/Hematology

100

118

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Section: Rev Ised Bethesda Guidelinesmentioning

confidence: 99%

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing

Ryan

Sheahan

Creavin

et al. 2017

Critical Reviews in Oncology/Hematology

100

118

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“…Annual endometrial sampling may be considered, but the benefit is uncertain. 55,[58][59][60][61][62] Routine transvaginal ultrasound and serum CA-125 testing are not endorsed because they have not been shown to be sufficiently sensitive or specific, 55,[59][60][61][62][63] but the panel recognized that there may be circumstances in which the clinician may find these tests helpful. An observational study showed that hormonal contraceptive use is associated with lower risk of endometrial cancer in carriers of MMR mutations (hazard ratio [HR], 0.39; 95% CI, 0.23-0.64, P<.001).…”

Section: Surveillance For Patients With Lynch Syndromementioning

confidence: 99%

Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology

Provenzale¹,

Gupta²,

Ahnen³

et al. 2016

J Natl Compr Canc Netw

200

155

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OverviewColorectal cancer (CRC) is the fourth most frequently diagnosed cancer and the second leading cause of cancer death in the United States. Abstract This is a focused update highlighting the most current NCCN Guidelines for diagnosis and management of Lynch syndrome. Lynch syndrome is the most common cause of hereditary colorectal cancer, usually resulting from a germline mutation in 1 of 4 DNA mismatch repair genes (MLH1, MSH2, MSH6, or PMS2), or deletions in the EPCAM promoter. Patients with Lynch syndrome are at an increased lifetime risk, compared with the general population, for colorectal cancer, endometrial cancer, and other cancers, including of the stomach and ovary. As of 2016, the panel recommends screening all patients with colorectal cancer for Lynch syndrome and provides recommendations for surveillance for early detection and prevention of Lynch syndrome-associated cancers. J Natl Compr Canc Netw 2016;14(8):1010-1030 NCCN Categories of Evidence and ConsensusCategory 1: Based upon high-level evidence, there is uniform NCCN consensus that the intervention is appropriate. Category 2A: Based upon lower-level evidence, there is uniform NCCN consensus that the intervention is appropriate. Category 2B: Based upon lower-level evidence, there is NCCN consensus that the intervention is appropriate. Category 3: Based upon any level of evidence, there is major NCCN disagreement that the intervention is appropriate. These guidelines are also available on the Internet. For the latest update, visit NCCN.org.

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“…We identified three primary studies 107,190,191 and four reviews 65,167,192,193 which were critically appraised in relation to the UK context and the decision problem.…”

Section: Literature Review Of the Effectiveness Of Surveillance For Ementioning

confidence: 99%

“…Auranen and Joutsiniemi (2011) 192 conducted a systematic review of gynaecological cancer screening in women belonging to LS families, which had five included studies. 190,191,[194][195][196] In our review, the study by Lécuru and colleagues (2008) 195 was excluded because the abstract suggested that there was no comparator for the surveillance strategy.…”

Section: Existing Reviewsmentioning

confidence: 99%

A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome

Snowsill

Huxley

Hoyle

et al. 2014

Health Technology Assessment

108

234

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BackgroundLynch syndrome (LS) is an inherited autosomal dominant disorder characterised by an increased risk of colorectal cancer (CRC) and other cancers, and caused by mutations in the deoxyribonucleic acid (DNA) mismatch repair genes.ObjectiveTo evaluate the accuracy and cost-effectiveness of strategies to identify LS in newly diagnosed early-onset CRC patients (aged < 50 years). Cascade testing of relatives is employed in all strategies for individuals in whom LS is identified.Data sources and methodsSystematic reviews were conducted of the test accuracy of microsatellite instability (MSI) testing or immunohistochemistry (IHC) in individuals with CRC at risk of LS, and of economic evidence relating to diagnostic strategies for LS. Reviews were carried out in April 2012 (test accuracy); and in February 2012, repeated in February 2013 (economic evaluations). Databases searched included MEDLINE (1946 to April week 3, 2012), EMBASE (1980 to week 17, 2012) and Web of Science (inception to 30 April 2012), and risk of bias for test accuracy was assessed using the Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) quality appraisal tool. A de novo economic model of diagnostic strategies for LS was developed.ResultsInconsistencies in study designs precluded pooling of diagnostic test accuracy results from a previous systematic review and nine subsequent primary studies. These were of mixed quality, with significant methodological concerns identified for most. IHC and MSI can both play a part in diagnosing LS but neither is gold standard. No UK studies evaluated the cost-effectiveness of diagnosing and managing LS, although studies from other countries generally found some strategies to be cost-effective compared with no testing.The de novo model demonstrated that all strategies were cost-effective compared with no testing at a threshold of £20,000 per quality-adjusted life-year (QALY), with the most cost-effective strategy utilising MSI andBRAFtesting [incremental cost-effectiveness ratio (ICER) = £5491 per QALY]. The maximum health benefit to the population of interest would be obtained using universal germline testing, but this would not be a cost-effective use of NHS resources compared with the next best strategy. When the age limit was raised from 50 to 60 and 70 years, the ICERs compared with no testing increased but remained below £20,000 per QALY (except for universal germline testing with an age limit of 70 years). The total net health benefit increased with the age limit as more individuals with LS were identified. Uncertainty was evaluated through univariate sensitivity analyses, which suggested that the parameters substantially affecting cost-effectiveness: were the risk of CRC for individuals with LS; the average number of relatives identified per index patient; the effectiveness of colonoscopy in preventing metachronous CRC; the cost of colonoscopy; the duration of the psychological impact of genetic testing on health-related quality of life (HRQoL); and the impact of prophylactic hysterectomy and bilateral salpingo-oophorectomy on HRQoL (this had the potential to make all testing strategies more expensive and less effective than no testing).LimitationsThe absence of high-quality data for the impact of prophylactic gynaecological surgery and the psychological impact of genetic testing on HRQoL is an acknowledged limitation.ConclusionsResults suggest that reflex testing for LS in newly diagnosed CRC patients aged < 50 years is cost-effective. Such testing may also be cost-effective in newly diagnosed CRC patients aged < 60 or < 70 years. Results are subject to uncertainty due to a number of parameters, for some of which good estimates were not identified. We recommend future research to estimate the cost-effectiveness of testing for LS in individuals with newly diagnosed endometrial or ovarian cancer, and the inclusion of aspirin chemoprevention. Further research is required to accurately estimate the impact of interventions on HRQoL.Study registrationThis study is registered as PROSPERO CRD42012002436.FundingThe National Institute for Health Research Health Technology Assessment programme.

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A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families

Cited by 102 publications

References 26 publications

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing

Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology

A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome

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