已发表论文

伴有 NF1 突变的卵巢成熟畸胎瘤引起的侵袭性腹膜胶质瘤病:病例报告和文献回顾

 

Authors Liu C , Yan B, Wang Y, Di W, Lou W

Received 31 May 2022

Accepted for publication 12 September 2022

Published 12 October 2022 Volume 2022:14 Pages 2979—2986

DOI https://doi.org/10.2147/CMAR.S374987

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Antonella D'Anneo

Background: GP arising from ovarian mature teratoma is a rare disease, and no confirmed pathogenesis signature genes are reported. The progress of GP is seen as relatively slow. Rare aggressive GP cases with poor prognosis were reported and no guidelines to follow for treatment.
Case Presentation: Herein, we report a 17-year-old girl with a 3-year-history of GP arising from ovarian mature teratoma. Surgeries and drug therapy were used to treat the aggressively growing tumour. Genetic profiling revealed the pathogenic mutation with potential therapeutic approaches. We firstly reported the NF1 mutations in GP secondary to teratomas and may cause bad prognosis.
Conclusion: GP arising from ovarian mature teratoma is rare; we found NF1 mutation could be the trigger of GP. The study may provide new insights into a better understanding of this rare disease.
Keywords: ovarian mature teratoma, gliomatosis peritonei, genetic profile, NF1 mutation, MGMT promoter methylation, Trametinib