Löser H, Heydt C, Büttner R, Markiefka B
Institut für Pathologie, Uniklinik Köln, Kerpener Str. 62, 50937, Köln, Deutschland.
Pathologe. 2017 Mar;38(2):117-126. doi: 10.1007/s00292-017-0274-0.
Approximately 9000 women are diagnosed with ovarian cancer in Germany each year. The most common subtype is high-grade serous ovarian cancer. A relevant proportion of these tumors are associated with mutations in the breast and ovarian cancer susceptibility genes (BRCA1 and BRCA2) representing highly penetrant tumor suppressor genes with autosomal inheritance and play a crucial role in DNA repair mechanisms. These patients have predominantly germline mutations and less frequently have somatic BRCA mutations. Tumors harboring BRCA mutations show a significant improvement in progression-free survival under therapy with poly(adenosine diphosphate ribose) polymerase (PARP) inhibitors. In 2015 the first PARP inhibitor was approved for the therapy of high-grade serous ovarian cancer with BRCA mutations. Mutation analysis can be performed on formalin-fixed paraffin-embedded (FFPE) tumor tissue within a few days.
在德国,每年约有9000名女性被诊断出患有卵巢癌。最常见的亚型是高级别浆液性卵巢癌。这些肿瘤中有相当一部分与乳腺癌和卵巢癌易感基因(BRCA1和BRCA2)的突变有关,这些基因是具有常染色体遗传的高穿透性肿瘤抑制基因,在DNA修复机制中起关键作用。这些患者主要是种系突变,体细胞BRCA突变较少见。携带BRCA突变的肿瘤在接受聚(腺苷二磷酸核糖)聚合酶(PARP)抑制剂治疗后,无进展生存期有显著改善。2015年,首个PARP抑制剂被批准用于治疗伴有BRCA突变的高级别浆液性卵巢癌。可以在几天内对福尔马林固定石蜡包埋(FFPE)肿瘤组织进行突变分析。