Mutational analysis of FOXL2 p.C134W and expression of bone morphogenetic protein 2 in Japanese patients with granulosa cell tumor of ovary.

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.
AuthorsKumiko Oseto, Nobuhiro Suzumori, Ryutaro Nishikawa, Hiroshi Nishikawa, Atsushi Arakawa, Yasuhiko Ozaki, Hidekazu Asai, Michiyasu Kawai, Kimio Mizuno, Satoru Takahashi, Tomoyuki Shirai, Chisato Yamada-Namikawa, Makoto Nakanishi, Hiroaki Kajiyama, Fumitaka Kikkawa, Mayumi Sugiura-Ogasawara
JournalThe journal of obstetrics and gynaecology research (J Obstet Gynaecol Res) Vol. 40 Issue 5 Pg. 1197-204 (May 2014) ISSN: 1447-0756 [Electronic] Australia
PMID24689977 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Copyright© 2014 The Authors. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.
Chemical References
  • BMP2 protein, human
  • Bone Morphogenetic Protein 2
  • FOXL2 protein, human
  • Forkhead Transcription Factors
  • Adult
  • Bone Morphogenetic Protein 2 (analysis)
  • Female
  • Forkhead Transcription Factors (genetics)
  • Granulosa Cell Tumor (chemistry, genetics)
  • Humans
  • Immunohistochemistry
  • Mutation
  • Ovarian Neoplasms (chemistry, genetics)

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