総説・解説等

Risk-reducing salpingo-oophorectomy (RRSO) is recommended for women with a BRCA1 or BRCA2 (BRCA1/2) pathogenic variant because there is no effective surveillance method for ovarian cancer. RRSO has been shown to not only reduce the risk of developing ovarian cancer but also to reduce cancer mortality. It is known that a certain percentage of occult cancer that could not be diagnosed preoperatively, an early cancer lesion called serous tubal intraepithelial carcinoma (STIC), or precancerous lesions called serous tubal intraepithelial lesion (STIL) and p53 signature are seen in fallopian tubes and ovaries. However, the clinical significance of STIC, STIL, and p53 signature is not well established. In this chapter, we summarize the reports about these lesions found in RRSO specimens with the aim of helping clinical management and future research.

BRCA遺伝子検査やがんゲノムプロファイル検査などの遺伝子検査は,現在のがん治療において不可欠である。コンパニオン診断として行われる場合,がん治療を担当する主治医が検査に対応するが,その結果としてHBOCが診断される可能性がある。遺伝情報の取り扱いや家系員へのアプローチは主治医も把握すべき重要なポイントであり,適切な遺伝医療を提供するためには遺伝診療部との緊密な連携が不可欠である。(著者抄録)

The treatment of ovarian cancer has changed significantly over the past few years, particularly in the case of hereditary breast and ovarian cancer (HBOC) syndrome. Genetic testing for BRCA1 and BRCA2 is used not only for a diagnosis for HBOC but also a biomarker for PARP inhibitors, which is of great importance in the treatment of ovarian cancer. The characteristics of ovarian cancer in HBOC have been reported of the highest prevalence in high-grade serous carcinoma subtype, high sensitivity to platinum salt chemotherapies and PARP inhibitors, and a better prognosis compared to BRCA-negative ovarian cancer. It is important to note that ovarian cancer with a family history is also associated with Lynch syndrome, although less frequently than HBOC. In addition, recent multi-panel genetic analysis has led to the identification of genes other than HBOC that are involved in the development of ovarian cancer, which may require further clinical practice.