Gynecologic screening in hereditary nonpolyposis colorectal cancer

Rijcken, Fleur Em; Mourits, Marian J.E.; Kleibeuker, Jan H.; Hollema, Harry; Zee, Ate G.J. van der

doi:10.1016/s0090-8258(03)00371-8

Cited by 152 publications

(127 citation statements)

References 25 publications

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“…Both Rijcken et al and Dove-Edwin et al reported that TVUS failed to identify any cases of endometrial cancer that were only diagnosed at the onset of symptoms. 31,32 However, according to a Finnish population-based study, screening with endometrial biopsy identified more cases of early endometrial cancer or hyperplasia compared with symptoms alone. 33 Assuming that screening has imperfect specificity, it will lead to surgery on the basis of false-positive results (ie, atypical endometrial hyperplasia in the absence of endometrial cancer on final pathology or elevated CA 125 and pelvic mass in the absence of ovarian cancer) and thereby decrease the total number of cancer cases.…”

Section: Discussionmentioning

confidence: 99%

Cost‐effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome

Kwon

Sun

Peterson

et al. 2008

Cancer

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BACKGROUND. Women with Lynch syndrome (hereditary nonpolyposis colorectal cancer) have an increased lifetime risk for endometrial and ovarian cancer. Screening and prophylactic surgery have been recommended as prevention strategies. In this study, the authors estimated the net health benefits and cost‐effectiveness of these strategies in a Markov decision‐analytic model. METHODS. Five strategies were compared for a hypothetical cohort of women with Lynch syndrome: 1) no prevention (‘reference’); 2) prophylactic surgery (hysterectomy and bilateral salpingo‐oophorectomy) at age 30 years; 3) prophylactic surgery at age 40 years; 4) annual screening with endometrial biopsy, transvaginal ultrasound, and CA 125 from age 30 years; and 5) annual screening from age 30 years until prophylactic surgery at age 40 years (combined strategy). Net health benefit was measured in quality‐adjusted life years (QALYs), and the primary outcome measured was the incremental cost‐effectiveness ratio (ICER). Baseline and transition probabilities were obtained from published literature, and costs were from the U.S. Department of Health and Human Services and Agency for Health Care Quality and Research. Sensitivity analyses were performed for uncertainty around various parameters. RESULTS. The combined strategy provided the highest net health benefit (18.98 QALYs) but had an ICER of $194,650 per QALY relative to the next best strategy (prophylactic surgery at age 40 years). Prophylactic surgery at age 30 years and annual screening were dominated by alternate strategies. CONCLUSIONS. Annual screening followed by prophylactic surgery at age 40 years was the most effective gynecologic cancer prevention strategy, but the incremental benefit over prophylactic surgery alone was attained at substantial cost. The ICER would become favorable by improving the effectiveness and reducing the costs of screening in this population. Cancer 2008. © 2008 American Cancer Society.

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Section: Discussionmentioning

confidence: 99%

Cost‐effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome

Kwon

Sun

Peterson

et al. 2008

Cancer

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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

199

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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“…A few published studies have investigated screening for EC in LS patients, but the results have been conflicting. One study showed that annual transvaginal ultrasound followed by endometrial biopsy in the setting of an abnormal ultrasound result detected 3 premalignant lesions; however, this method failed to detect an actual EC that was ultimately detected from symptoms (53 ). A second study showed that a transvaginal ultrasound examination every 1 to 2 years failed to detect 2 ECs (54 ).…”

Section: Preventive Screeningmentioning

confidence: 99%

Lynch Syndrome Presenting as Endometrial Cancer

Tafe¹,

Riggs

Tsongalis³

2014

Clinical Chemistry

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BACKGROUND Lynch syndrome (LS) is the most common form of the hereditary colon cancer syndromes. Because of its high prevalence, a nationwide campaign has begun to screen all colorectal cancers for the genetic abnormalities associated with LS. CONTENT Next to colorectal cancer, endometrial cancer is the most common form of malignancy found in women with LS. Identifying individuals who harbor the well-characterized mismatch-repair gene mutations via immunohistochemistry, microsatellite instability analysis, or direct gene sequencing is critical to managing the LS patient and to surveillance for the development of other associated tumor types. SUMMARY Although many institutions have begun screening all colorectal tumors for LS, the evidence is sufficient to warrant the testing of all endometrial cancers for LS as well. Various testing algorithms, along with genetic-counseling efforts, can lead to a cost-efficient and beneficial screening program.

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Gynecologic screening in hereditary nonpolyposis colorectal cancer

Cited by 152 publications

References 25 publications

Cost‐effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome

Cost‐effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome

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

Lynch Syndrome Presenting as Endometrial Cancer

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