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BRCA-1基因种系突变携带者预防性卵巢切除术中隐匿性输卵管癌:手术预防时推荐子宫切除术的理由。

Occult cancer of the fallopian tube in BRCA-1 germline mutation carriers at prophylactic oophorectomy: a case for recommending hysterectomy at surgical prophylaxis.

作者信息

Paley P J, Swisher E M, Garcia R L, Agoff S N, Greer B E, Peters K L, Goff B A

机构信息

Department of OB/GYN, Division of Gynecologic Oncology, University of Washington School of Medicine, Seattle, Washington 98195, USA.

出版信息

Gynecol Oncol. 2001 Feb;80(2):176-80. doi: 10.1006/gyno.2000.6071.

Abstract

OBJECTIVE

BRCA-1 and BRCA-2 germline mutations increase the risk of ovarian and breast cancer. Primary cancer of the fallopian tube is rare; however, recent evidence suggests that patients harboring a germline mutation conferring an increased risk of ovarian cancer may be at risk for fallopian tube cancer as well. We discuss the finding of occult fallopian tube cancer diagnosed at surgical prophylaxis in women harboring BRCA-1 mutations.

METHODS/RESULTS: Two patients undergoing surgical prophylaxis to address an increase in ovarian cancer risk were discovered to harbor occult primary fallopian tube carcinoma on final pathology review. Mutational analysis confirmed the presence of a deleterious mutation in BRCA-1 in both patients.

CONCLUSION

Currently, consensus opinions regarding ovarian cancer surgical prophylaxis in gene mutation carriers do not include hysterectomy as part of the preventative procedure. This report as well as a growing number of cases of fallopian tube cancer reported in known BRCA-1 and BRCA-2 mutation carriers has important implications for recommendations regarding surgical prophylaxis in these women.

摘要

目的

BRCA - 1和BRCA - 2种系突变会增加卵巢癌和乳腺癌的风险。原发性输卵管癌较为罕见;然而,最近的证据表明,携带种系突变且患卵巢癌风险增加的患者也可能有患输卵管癌的风险。我们讨论了在对携带BRCA - 1突变的女性进行手术预防时诊断出隐匿性输卵管癌的情况。

方法/结果:在对两名因卵巢癌风险增加而接受手术预防的患者进行最终病理检查时,发现她们患有隐匿性原发性输卵管癌。突变分析证实两名患者均存在BRCA - 1有害突变。

结论

目前,关于基因突变携带者卵巢癌手术预防的共识意见不包括将子宫切除术作为预防措施的一部分。本报告以及在已知的BRCA - 1和BRCA - 2突变携带者中报告的越来越多的输卵管癌病例,对于这些女性手术预防的建议具有重要意义。

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