Salvesen Helga B, Iversen Ole Erik, Tropé Claes
Kvinneklinikken, Haukeland Universitetssjukehus, 5021 Bergen.
Tidsskr Nor Laegeforen. 2005 Nov 17;125(22):3120-3.
Our understanding of the genetic basis of gynaecologic cancer has increased. Still this is a major cause of death. Based on a review of the literature, we present molecular diagnostic tools no available for the prevention and characterisation of cancers in the ovaries, uterus and cervix.
The presentation is based on a limited literature search in PubMed, Medline, Cochrane, internet addresses for treatment protocols, and our own experiences.
The cause of endometrial and ovarian cancer is mainly unknown. Around 5% of the cases are caused by inherited mutations in the BRCA1, BRCA2 or DNA repair genes. Special follow up is recommended for carriers of these mutations. Human papillomavirus (HPV) is the main cause of cervical cancer. Determination of the HPV type can contribute to a diagnosis, but it is not part of the screening programme. A more precise molecular diagnosis in endometrial and ovarian cancer can lead to development of new targeted therapy and tests for prediction of treatment response. Preliminary studies have given promising results, including studies of papillomavirus vaccines.
Detection of susceptibility genes, oncogenic viruses and prognostic markers are now useful tools in the prevention, diagnosis and treatment of gynaecologic cancer. Studies of the molecular tumour profile have shown promise for the development of new treatment strategies.
我们对妇科癌症遗传基础的认识有所增加。然而，它仍是主要的死亡原因。基于文献综述，我们介绍了目前尚无用于卵巢、子宫和宫颈癌预防及特征描述的分子诊断工具。
本报告基于在PubMed、Medline、Cochrane上进行的有限文献检索、治疗方案的互联网地址以及我们自己的经验。
子宫内膜癌和卵巢癌的病因主要不明。约5%的病例由BRCA1、BRCA2或DNA修复基因的遗传性突变引起。建议对这些突变携带者进行特殊随访。人乳头瘤病毒（HPV）是宫颈癌的主要病因。HPV类型的测定有助于诊断，但它并非筛查项目的一部分。子宫内膜癌和卵巢癌更精确的分子诊断可推动新的靶向治疗及治疗反应预测检测的发展。初步研究已取得有前景的结果，包括乳头瘤病毒疫苗的研究。
易感性基因、致癌病毒和预后标志物的检测如今是妇科癌症预防、诊断和治疗的有用工具。分子肿瘤图谱研究已显示出开发新治疗策略的前景。
