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Incidental Serous Tubal Intraepithelial Carcinoma Finding in a Nepalese Patient Undergoing Opportunistic Salpingectomy and the Discovery of a BRCA1 Pathogenic Variant. 一名尼泊尔患者在接受输卵管切除术时意外发现浆液性输卵管上皮内癌并发现 BRCA1 致病变异体
Pub Date : 2024-06-01 DOI: 10.1097/og9.0000000000000009
Kristin M Tischer, Siddhartha Yadav, Debra Bell, Kathleen Hansen, Larissa N Veres, Brandon Maddy, Jamie N Bakkum-Gamez

Background: Serous tubal intraepithelial carcinoma (STIC) lesions are the precursor to high grade serous ovarian carcinomas (HGSC) which have the highest mortality rate among gynecologic malignancies. Among women diagnosed with HGSC, 20% are found to be secondary to hereditary causes with the majority being associated with germline pathogenic variants (PVs) in BRCA1 and BRCA2 genes. Patients with a PV are high risk for developing HGSC, so it is recommended that they undergo risk reducing salpingo-oophorectomies in their 30s-40s. Opportunistic salpingectomy is the only ovarian cancer prevention method available for average risk patients. While STIC lesions are rare in average risk women, studies quote incidental STIC lesion findings in 1-7% of patients undergoing opportunistic salpingectomy.

Case: A 38-year-old woman (gravida 2, para 2) of Nepalese ethnicity had an incidental finding of a STIC lesion at the time of opportunistic salpingectomy for permanent sterilization at cesarean delivery. The STIC lesion was found using representative sampling of the fallopian tubes since the patient was considered average risk for ovarian cancer. This method is much less sensitive than SEE-FIM protocol which is used with known high-risk women. This ultimately led to discovery of a BRCA1 mutation in the patient.

Conclusion: SEE-FIM protocol is used to identify STIC lesions, but it is not routinely used on average risk patients' fallopian tubes. Using SEE-FIM protocol would lead to less missed STICs, but it is unclear how much extra cost and effort would be required to implement this. There are knowledge gaps when it comes to understudied populations and hereditary breast and ovarian cancer (HBOC) gene prevalence. Studies show that current BRCA prediction models underestimate HBOC gene prevalence in Asian populations. Diagnosing STICs in understudied populations could lead to the discovery of an HBOC PV which the patient may not have discovered until after a cancer diagnosis. Identification of a STIC in an average risk patient should lead to a referral for genetic counseling and screening.

背景:浆液性输卵管上皮内癌(STIC)病变是高级别浆液性卵巢癌(HGSC)的前身,后者是死亡率最高的妇科恶性肿瘤。在确诊为 HGSC 的妇女中,有 20% 是继发于遗传原因,其中大多数与 BRCA1 和 BRCA2 基因中的种系致病变体 (PV) 有关。有 PV 的患者是罹患 HGSC 的高危人群,因此建议他们在 30-40 岁时接受降低风险的输卵管切除术。机会性输卵管切除术是唯一可用于普通风险患者的卵巢癌预防方法。虽然 STIC 病变在风险一般的妇女中很少见,但有研究表明,在接受机会性输卵管切除术的患者中,1%-7% 会偶然发现 STIC 病变:病例:一名 38 岁的尼泊尔裔妇女(重度 2,第 2 段)在剖宫产时为永久绝育而进行机会性输卵管切除术,意外发现了 STIC 病变。STIC病变是通过对输卵管进行代表性取样发现的,因为该患者被认为卵巢癌风险一般。这种方法的灵敏度远远低于 SEE-FIM 方案,后者用于已知的高风险妇女。这最终导致在患者体内发现了 BRCA1 基因突变:结论:SEE-FIM 方案可用于鉴别 STIC 病变,但并未被常规用于平均风险患者的输卵管。使用 SEE-FIM 方案可减少 STIC 的漏诊率,但目前尚不清楚实施该方案需要多少额外成本和精力。在未充分研究的人群以及遗传性乳腺癌和卵巢癌(HBOC)基因流行率方面,还存在知识空白。研究表明,目前的 BRCA 预测模型低估了 HBOC 基因在亚洲人群中的流行率。在研究不足的人群中诊断 STIC 可能会导致发现 HBOC PV,而患者可能直到癌症确诊后才发现 HBOC PV。如果在普通风险患者中发现 STIC,则应转诊进行遗传咨询和筛查。
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引用次数: 0
Lives Saved Through Increasing Adherence to Follow-Up After Abnormal Cervical Cancer Screening Results. 通过提高宫颈癌筛查结果异常后的随访率挽救生命。
Pub Date : 2024-03-19 eCollection Date: 2024-03-01 DOI: 10.1097/og9.0000000000000001
Diane M Harper, Tiffany M Yu, A Mark Fendrick

Objective: To model the potential number of cancers prevented and life-years saved over a range of adherence rates to cervical cancer screening, surveillance follow-up, and follow-up colposcopy that may result from removing financial barriers to these essential clinical services.

Methods: A previously validated decision-analytic Markov microsimulation model was used to evaluate the increase in adherence to screening, surveillance, and colposcopy after an abnormal cervical cancer screening result. For each incremental increase in adherence, we modeled the number of cervical cancer cases avoided, the stages at which the cancers were detected, the number of cervical cancer deaths avoided, and the number of life-years gained.

Results: Compared with current adherence rates, the model estimated that an optimized scenario of perfect screening, surveillance, and colposcopy adherence per 100,000 women currently eligible for screening in the United States was 128 (95% CI, 66-199) fewer cervical cancers detected (23%), 62 (95% CI, 7-120) fewer cervical cancer deaths (20%), and 2,135 (95% CI, 1,363-3,057) more life-years saved. Sensitivity analysis revealed that any increase in adherence led to clinically meaningful health benefits.

Conclusion: The consequences of not attending routine screening or follow-up after an abnormal cervical cancer screening result are associated with preventable cervical cancer morbidity and premature mortality. Given the potential for the removal of consumer cost sharing to increase the use of necessary follow-up after abnormal screening results and to ultimately reduce cervical cancer morbidity and mortality, public and private payers should remove cost barriers to these essential services.

目的模拟在一定的宫颈癌筛查、监测随访和阴道镜随访坚持率范围内,因消除这些基本临床服务的经济障碍而可能预防的癌症数量和挽救的生命年数:方法:我们使用了之前验证过的决策分析马尔可夫微观模拟模型来评估宫颈癌筛查结果异常后,筛查、监测和阴道镜检查的依从性的提高情况。对于坚持率的每一次递增,我们模拟了避免的宫颈癌病例数、发现癌症的阶段、避免的宫颈癌死亡人数以及获得的寿命年数:与目前的坚持率相比,该模型估计,在美国,每 10 万名目前符合筛查条件的妇女中,如果完全坚持筛查、监测和阴道镜检查,则发现的宫颈癌病例将减少 128 例(95% CI,66-199)(23%),宫颈癌死亡病例将减少 62 例(95% CI,7-120)(20%),挽救的生命年数将增加 2,135 年(95% CI,1,363-3,057)。敏感性分析表明,任何坚持率的提高都会带来有临床意义的健康益处:结论:宫颈癌筛查结果异常后不参加常规筛查或随访的后果与可预防的宫颈癌发病率和过早死亡有关。鉴于取消消费者费用分担有可能增加异常筛查结果后必要随访的使用率,并最终降低宫颈癌的发病率和死亡率,公共和私人支付者应消除这些基本服务的费用障碍。
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