浙大医学院附属妇产科医院谢幸教授:可用基因检测筛查卵巢癌并指导用药

2017-04-24 新华社 新华社

过去10年间,我国卵巢癌发病率增加30%,死亡率增加18%。中华医学会妇科肿瘤学分会候任主任委员、中华医学会妇产科学分会常委、浙江大学医学院附属妇产科医院谢幸教授说,卵巢癌是“隐形杀手”,七成以上卵巢癌病例就诊时已为晚期。卵巢癌的发病原因至今不明,但近年研究发现,其中部分病人发病与基因突变有关。 作为妇科常见癌,卵巢癌是妇科恶性肿瘤的“凶”癌之一。相关数据显示,全球每年有超

 

过去10年间,我国卵巢癌发病率增加30%,死亡率增加18%。中华医学会妇科肿瘤学分会候任主任委员、中华医学会妇产科学分会常委、浙江大学医学院附属妇产科医院谢幸教授说,卵巢癌是“隐形杀手”,七成以上卵巢癌病例就诊时已为晚期。卵巢癌的发病原因至今不明,但近年研究发现,其中部分病人发病与基因突变有关。

作为妇科常见癌,卵巢癌是妇科恶性肿瘤的“凶”癌之一。相关数据显示,全球每年有超过22万新发病例,死亡人数达14万。

谢幸教授说,目前卵巢癌七成以上都是上皮性卵巢癌,较之生殖细胞肿瘤等其他类型的卵巢癌,上皮性卵巢癌的恶性程度最高。其发病年龄在45岁左右,早期多无明显症状,很多患者就诊时已是中晚期,加上对化疗药不敏感,容易发生耐药,其五年生存率一直没有太大改观。

卵巢癌缘何难以早期发现?专家指出,一方面与其发病的隐匿性有关。卵巢在盆腔内,位置比较深,病变不容易被发现;卵巢癌早期没有症状,即使有症状也是腹胀、腹部不适等非特异性现象,容易和胃病、胃肠炎等常见疾病混淆。与此同时,有效的早筛手段缺乏。通过单纯的妇科检查,包括超声、CT、核磁共振的检测手段都不太容易发现。“即便肿瘤标志物检查也没有较好的特异性。现在临床上常用的肿瘤标志物是CA125,早期卵巢癌病人常常不高,高的又不一定是卵巢癌。”谢幸说。

近年研究发现,卵巢癌部分病人发病与基因突变有关。专家表示,BRCA基因检测不仅是卵巢癌高危个体筛查的重要参考数据,对卵巢癌患者用药也极具指导意义。患者一旦确诊上皮性卵巢癌,即可做BRCA检测,以便指导患者的生存预后,同时有助于鉴别出对于铂类化疗敏感的患者,或适合接受靶向治疗(如PARP抑制剂)的患者,制定有效的治疗方案,使“个体化”医疗成为可能;另外,携带BRCA突变基因的患者可以进一步鉴别其亲属罹患卵巢癌或乳腺癌的风险,提前制定预防策略。专家指出,最新研究数据显示,我国超过1/4的卵巢癌患者都存在BRCA突变,但是BRCA检测率却远远低于国际水平。

究竟该如何治疗卵巢癌?“目前,卵巢癌治疗是在手术尽可能切除原发病灶和转移病灶的基础上辅以术后化疗。”谢幸教授说,“化疗药物是细胞毒类药物,对正常细胞和癌细胞都可能造成杀伤。而靶向治疗是目前国际上肿瘤治疗所采取的较为前沿的方法,可以 瞄准 病变源头, 绕开 健康细胞,使治疗更有针对性。相对于传统的放化疗,副作用更小,患者耐受性更好。”

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    2017-04-26 doctorJiangchao

    好东西 准确性需要商榷

    0

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美国当地时间,4月6日,FDA批准了由23andMe自主研发的针对10种疾病罹患风险的个人基因组检测服务(Genetic Health Risk, GHR),FDA称,这是全球首个被FDA批准的直接销售给消费者(患者)的基因诊断产品(服务),可以基于客户的基因测序数据,给出疾病诊断、自己生活方式等健康方面的建议。

JCO:误读基因检测结果导致近半不必要的乳房切除术

    近日,发表在《临床肿瘤学》杂志(Journal of Clinical Oncology,顶级肿瘤学期刊)上的一项调查显示,近半基因检测结果显示没有已知基因突变增加额外乳腺癌风险的女性选择了双乳切除手术。       斯坦福大学医学健康研究和政策副教授Dr. Allison Kurian表示,这结果让人非常惊讶,因为如果