講演情報
[P26-18]FOXL2遺伝子変異の解析を行った卵巣成人型顆粒膜細胞腫瘍の4例
○青柳 陽子, 甲斐 健太郎, 麻生 咲季, 尾石 友子, 矢野 光剛, 西田 正和, 奈須 家栄, 河野 康志 (大分大学 医学部 産科婦人科)
Introduction: Adult-type granulosa cell tumors (GCTs) of the ovary account for <5% of all ovarian malignancies. Over 95% of adult-type GCTs have shown a tumor mutation of a transcription factor that regulates granulosa cell proliferation, follicle development, and hormone synthesis (FOXL2 ). Few clinical settings have provided a FOXL2 mutation analysis of such tumors. We conducted an ad hoc FOXL2 mutation analysis of four cases of morphologically diagnosed adult-type GCT to evaluate the clinical feasibility of a FOXL2 mutation analysis.<br/>Cases: Our retrospective review of 10 years of our institutional pathological archives revealed four patients with an adult-type GCT of the ovary (median age at diagnosis, 48.5 years): FIGO stage I (n=3) and FIGO stage III (n=1). Primary debulking surgery (n=2 patients), a hysterectomy and bilateral oophorectomy (n=1), and fertility-sparing surgery plus six cycles of tri-weekly carboplatin and paclitaxel (n=1) were the treatments. Three patients achieved no evidence of disease; the fourth died of the disease. We extracted DNA from 10-μm-thick paraffin-embedded blocks of each patient's surgically extracted tissue for FOXL2 mutation analyses. Polymerase chain reaction and direct sequencing identified the mutation c.402C > G of the FOXL2 gene in three of the four patients. <br/>Conclusion: Our findings demonstrate that a FOXL2 mutation analysis is feasible in clinical practice. Universal screening for the FOXL2 mutation status would also be feasible. A further accumulation of cases is merited.