年轻子宫内膜癌患者保留生育能力治疗的思考

最新发布的《CA CANCER J CLIN》报道称，2019年美国有70余万例子宫内膜癌患者，有超过5万的新发病例。子宫内膜癌已成为美国发病率排名第二的妇科肿瘤，仅次于乳腺癌［1］。随着经济及生活水平的提高，以及生育年龄延迟，我国子宫内膜癌的发病率越来越接近发达国家。据最新一期国家癌症中心数据，我国2015年子宫内膜癌新发病例居我国恶性肿瘤发病前10位，占女性全部恶性肿瘤发病的3.88%，这一数据也较2014年的3.79%有所上升。城市地区的子宫内膜癌发病率为11.35/10万，高于农村地区；在上海，子宫内膜癌新发病例已超过子宫颈癌［2］。浏览更多请关注本刊微信公众号及当期杂志。

Screening and clinical research into PRF1 gene mutations in children with hemophagocytic syndrome.

To investigate the prevalence of mutations and sequence variations of PRF1 gene in Chinese pediatric patients withhemophagocytic syndrome （HPS） and to explore the possible relationship between gene mutations and clinical manifestations. Methods　Polymerase chain reaction （PCR） was performed on five pairs of primers for the coding exons and the flanking intron sequences of the PRF1gene. PCR products sequencing was subsequently applied to 30 pediatric patients with HLH and 50 controls. Results　Three heterozygous mutations in coding region were found， which resulted in amino acid change （C102F， S108N and T450M） in 3 patients. Those mutations were not detected in control subjects. One patient has compound heterozygous mutations （S108N and T450M） in the PRF1 gene，which was clearly diagnosed as familial HLH type 2 （FHL2）. One synonymous sequence variant （Q540Q） was observed in one patient but not in the controls. Two SNPs （A274A， H300H） in coding region both in HLH patients and controls were detected， but the heterozygosity rate had no  fference between the two groups. Conclusion　PRF1 gene mutations exist in Chinese children with HLH，and the mutation loci of C102F and S108N only exist in Chinese children，which shows that the PRF1 gene mutations in HLH children in China have their own characteristics. The HLH children without familial HLH history or with late onset may have familial HLH.