Oseto Kumiko, Suzumori Nobuhiro, Nishikawa Ryutaro, Nishikawa Hiroshi, Arakawa Atsushi, Ozaki Yasuhiko, Asai Hidekazu, Kawai Michiyasu, Mizuno Kimio, Takahashi Satoru, Shirai Tomoyuki, Yamada-Namikawa Chisato, Nakanishi Makoto, Kajiyama Hiroaki, Kikkawa Fumitaka, Sugiura-Ogasawara Mayumi
Department of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
J Obstet Gynaecol Res. 2014 May;40(5):1197-204. doi: 10.1111/jog.12324. Epub 2014 Apr 2.
To assess whether FOXL2 p.C134W mutation may play a role in the development of human ovarian tumors in the Japanese, we investigated the FOXL2 codon 134 mutation and protein expression of inhibin-α, bone morphogenetic protein 2 (BMP2) and follistatin (FST) in Japanese patients with granulosa cell tumor (GCT) of the ovary and other ovarian tumors.
We analyzed 114 tumor tissues from ovarian tumors, including 44 adult-type and two juvenile-type GCT of the ovary and 68 ovarian tumors by DNA sequencing. Immunohistochemistry was also performed in the adult and juvenile GCT tissues by immunostaining inhibin-α, BMP2 and FST.
We found the FOXL2 p.C134W mutation in 27 out of 44 (61.4%) adult-type GCT of the ovary, but none in other ovarian tumors. Histologically, all of the adult-type GCT sections were positive for inhibin-α, and the expression of BMP2 and FST was detected in 14 of 44 (31.8%) and zero of 47 (0%), respectively. No significant differences regarding the diagnosed age, preoperative serum carbohydrate antigen 125 levels, or BMP2 immunopositivity between the FOXL2 p.C134W mutation-positive and mutation-negative were found in the adult-type GCT patients.
Our findings suggest that FOXL2 p.C134W mutation-positive adult-type GCT of the ovary may not be common in the Japanese as compared to the previous data.
为了评估FOXL2 p.C134W突变是否可能在日本人卵巢肿瘤的发生发展中起作用，我们调查了日本卵巢颗粒细胞瘤（GCT）患者及其他卵巢肿瘤患者中FOXL2密码子134的突变情况以及抑制素-α、骨形态发生蛋白2（BMP2）和卵泡抑素（FST）的蛋白表达。
我们通过DNA测序分析了114例卵巢肿瘤的肿瘤组织，包括44例成人型和2例青少年型卵巢GCT以及68例卵巢肿瘤。还通过对抑制素-α、BMP2和FST进行免疫染色，在成人和青少年GCT组织中进行了免疫组织化学检测。
我们在44例成人型卵巢GCT中的27例（61.4%）中发现了FOXL2 p.C134W突变，但在其他卵巢肿瘤中未发现。组织学上，所有成人型GCT切片的抑制素-α均呈阳性，BMP2和FST的表达分别在44例中的14例（31.8%）和47例中的0例（0%）中检测到。在成人型GCT患者中，FOXL2 p.C134W突变阳性和突变阴性患者在诊断年龄、术前血清糖类抗原125水平或BMP2免疫阳性方面未发现显著差异。
我们的研究结果表明，与先前的数据相比，FOXL2 p.C134W突变阳性的成人型卵巢GCT在日本人中可能并不常见。
