改善妇科肿瘤患者的遗传咨询服务。

Gynecologic oncology research and practice Pub Date : 2018-01-10 eCollection Date: 2018-01-01 DOI:10.1186/s40661-018-0059-z
Hanoon P Pokharel, Neville F Hacker, Lesley Andrews
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引用次数: 2

摘要

背景:妇科癌症可能是携带BRCA1或2突变的妇女的前哨恶性肿瘤,BRCA1或2是一种导致Lynch综合征的错配修复基因或其他基因。尽管公布了转介到遗传服务的指导方针,但相当多的妇女没有参加推荐的遗传评估。该研究的目的是确定对在妇科肿瘤学多学科会议上诊断为卵巢癌或子宫内膜癌的患者进行系统随访的结果,这些患者被认为适合进行遗传学评估。方法:2010年至2014年(队列1)和2015年至2016年(队列2)期间在皇家妇女医院新诊断为妇科癌症的女性被确定为适合进行遗传学评估,并与新南威尔士州/澳大利亚首都地区遗传数据库进行对照。联系了未就诊的医生是否适合重新转诊,并通过邮件联系了仍适合进行遗传学评估的患者。出勤率再次与基因数据库进行了核对。结果:在队列1的462名患者中,标记为遗传评估,167名患者在2014年进行的初始审计中没有咨询过遗传服务。86例(18.6%)转诊的妇女尚未澄清家族史和/或免疫组织化学,不需要进一步的遗传评估。信件被寄给了40名妇女。7名妇女(1.5%)在随后的6个月内到遗传性癌症诊所就诊。2016年进行的审计确定了148名患者(队列2),适合在诊断时进行遗传评估。66例(44.6%)曾接受过遗传服务,51例(34.5%)的转诊尚待进一步信息,不需要进一步遗传评估。这些信件被寄给了15名女性,其中9名(6.1%)在6个月内参加了遗传学课程。结论:为了提高新诊断卵巢癌妇女遗传转诊指南的有效性,临床医生需要在诊断时获得完整的家族史;根据指南安排反射性MMR免疫组化;对所有患有非黏液性卵巢癌的妇女在出院前进行BRCA或小组检测,并在术后随访时对所有涉及遗传学的妇女进行系统随访。
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Improving attendance to genetic counselling services for gynaecological oncology patients.

Background: Gynaecological cancers may be the sentinel malignancy in women who carry a mutation in BRCA1 or 2, a mis-match repair gene causing Lynch Syndrome or other genes. Despite published guidelines for referral to a genetics service, a substantial number of women do not attend for the recommended genetic assessment. The study aims to determine the outcomes of systematic follow-up of patients diagnosed with ovarian or endometrial cancer from Gynaecologic-oncology multidisciplinary meetings who were deemed appropriate for genetics assessment.

Methods: Women newly diagnosed with gynaecological cancer at the Royal Hospital for Women between 2010 and 2014 (cohort1) and 2015-2016 (cohort 2) who were identified as suitable for genetics assessment were checked against the New South Wales/Australian Capital Territory genetic database. The doctors of non-attenders were contacted regarding suitability for re-referral, and patients who were still suitable for genetics assessment were contacted by mail. Attendance was again checked against the genetics database.

Results: Among 462 patients in cohort 1, flagged for genetic assessment, 167 had not consulted a genetic service at initial audit conducted in 2014. 86 (18.6%) women whose referral was pending clarification of family history and/or immunohistochemistry did not require further genetic assessment. Letters were sent to 40 women. 7 women (1.5%) attended hereditary cancer clinic in the following 6 months.The audit conducted in 2016 identified 148 patients (cohort 2) appropriate for genetic assessment at diagnosis. 66 (44.6%) had been seen by a genetics service, 51 (34.5%) whose referral was pending additional information did not require further genetic assessment. Letters were sent to 15 women, of whom 9 (6.1%) attended genetics within 6 months.

Conclusions: To improve the effectiveness of guidelines for the genetic referral of women newly diagnosed with ovarian cancer, clinicians need to obtain a thorough family history at diagnosis; arrange for reflex MMR IHC according to guidelines; offer BRCA or panel testing to all women with non-mucinous ovarian cancer prior to discharge and systematically follow up all women referred to genetics at the post-op visit.

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