源于伴有NF1突变的卵巢成熟畸胎瘤的侵袭性腹膜胶质瘤病：一例报告及文献复习
Aggressive Gliomatosis Peritonei Arising from Ovarian Mature Teratoma with NF1 Mutation: A Case Report and Literature Review.
作者信息
Liu Chang, Yan Bin, Wang You, Di Wen, Lou Weihua
机构信息
Department of Obstetrics and Gynecology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
Shanghai Key Laboratory of Gynecologic Oncology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
出版信息
Cancer Manag Res. 2022 Oct 12;14:2979-2986. doi: 10.2147/CMAR.S374987. eCollection 2022.
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.
背景
起源于卵巢成熟畸胎瘤的颗粒细胞瘤（GP）是一种罕见疾病，目前尚无已确认的致病特征基因报道。GP的进展相对缓慢。曾有罕见的侵袭性GP病例报道，其预后较差，且尚无治疗指南可循。
病例介绍
在此，我们报告一名17岁女孩，患有起源于卵巢成熟畸胎瘤的GP，病程3年。采用手术和药物治疗侵袭性生长的肿瘤。基因分析揭示了具有潜在治疗方法的致病突变。我们首次报道了畸胎瘤继发GP中的NF1突变，其可能导致不良预后。
结论
起源于卵巢成熟畸胎瘤的GP很罕见；我们发现NF1突变可能是GP的触发因素。该研究可能为更好地理解这种罕见疾病提供新的见解。
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