Resnick Kimberly, Straughn J Michael, Backes Floor, Hampel Heather, Matthews Kellie S, Cohn David E
From the Division of Gynecologic Oncology and Division of Human Genetics, Department of Internal Medicine, Ohio State University College of Medicine, Columbus, Ohio; and Division of Gynecologic Oncology, University of Alabama at Birmingham, Birmingham, Alabama.
Obstet Gynecol. 2009 Sep;114(3):530-536. doi: 10.1097/AOG.0b013e3181b11ecc.
To estimate the cost-effectiveness of screening strategies for Lynch syndrome among newly diagnosed endometrial cancer patients.
A decision analysis compared four strategies to screen women with newly diagnosed endometrial cancer for Lynch syndrome: 1) Amsterdam criteria strategy, where full gene sequencing was performed for women who meet Amsterdam criteria; 2) Sequence-all strategy, where full gene sequencing was performed for all women with endometrial cancer; 3) Sequence aged younger than 60 years strategy, where full gene sequencing was performed for women aged younger than 60 years with endometrial cancer; and 4) immunohistochemistry/single gene strategy, where immunohistochemistry was performed for the DNA mismatch repair genes for all women after single gene sequencing for specific women lacking protein expression. Prevalence rates, probabilities of immunohistochemistry staining loss, and gene mutation rates were calculated from published data. Costs were estimated from Medicare reimbursement rates. Cost-effectiveness ratios and incremental cost-effectiveness ratios were estimated for each strategy.
For the estimated 40,000 women diagnosed annually with endometrial cancer, the sequence-all strategy detects 920 patients with Lynch syndrome at a cost of $105 million. The Amsterdam criteria give the least-expensive strategy ($7 million), but detect the fewest patients (n=83) with Lynch syndrome. The immunohistochemistry/single gene sequencing strategy detects 858 patients at a cost of $17 million; this strategy has an incremental cost-effectiveness ratio of $13,812. The sequence aged younger than 60 years strategy was less effective and more costly than other strategies.
Of the strategies studied, immunohistochemical evaluation of tumor specimens for mismatch repair protein expression after single gene sequencing for patients with endometrial cancer is a cost-effective strategy for detecting Lynch syndrome.
: III.
评估针对新诊断子宫内膜癌患者的林奇综合征筛查策略的成本效益。
一项决策分析比较了四种针对新诊断子宫内膜癌女性进行林奇综合征筛查的策略：1）阿姆斯特丹标准策略，即对符合阿姆斯特丹标准的女性进行全基因测序；2）全测序策略，即对所有子宫内膜癌女性进行全基因测序；3）60岁以下测序策略，即对60岁以下的子宫内膜癌女性进行全基因测序；4）免疫组化/单基因策略，即对特定蛋白质表达缺失的女性进行单基因测序后，对所有女性的DNA错配修复基因进行免疫组化检测。患病率、免疫组化染色缺失概率和基因突变率根据已发表的数据计算得出。成本根据医疗保险报销率估算。估算了每种策略的成本效益比和增量成本效益比。
对于每年估计40000例诊断为子宫内膜癌的女性，全测序策略检测出920例林奇综合征患者，成本为1.05亿美元。阿姆斯特丹标准给出了成本最低的策略（700万美元），但检测出的林奇综合征患者最少（n = 83）。免疫组化/单基因测序策略检测出858例患者，成本为1700万美元；该策略的增量成本效益比为13812美元。60岁以下测序策略比其他策略效果更差且成本更高。
在所研究的策略中，对子宫内膜癌患者进行单基因测序后对肿瘤标本进行错配修复蛋白表达的免疫组化评估是检测林奇综合征的一种具有成本效益的策略。
III。
