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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