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子宫内膜癌传统组织病理与分子分型整合诊断的临床意义

Clinical significance of integrated diagnosis based on traditional histopathology and molecular classification of endometrial carcinoma

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【作者】 刘从容刘岩

【Author】 LIU Cong-rong;LIU Yan;Department of Pathology,School of Basic Medical Sciences,Third Hospital,Peking University Health Science Center;

【机构】 北京大学第三医院病理科北京大学医学部基础医学院病理系

【摘要】 子宫内膜癌分子分型需要与传统组织病理学进行充分整合,才能对临床诊治发挥最大的指导价值。DNA测序是获得POLE和TP53基因突变信息的金指标,提倡有条件的病例尽可能通过测序完善子宫内膜癌分子分型。应充分知晓多重分子分型的基本分型原则以避免误判。错配修复缺陷(MMRd)亚型在分子机制及临床预后上具有异质性,应结合临床信息除外Lynch综合征、结合组织学分型和分子检测进一步精准分层。不同组织类型的无特殊分子改变型(NSMP)亚型具有不同的驱动性分子事件和生物学行为,在制定治疗策略时,不应简单粗暴地将之视为一组同质性疾病。无视临床分期及病理组织学类型的、孤立的分子分型非但是不完整的、而且还可能会对临床诊治产生误导。只有基于组织病理与分子分型整合诊断的系统性思维才能使患者最大获益。

【Abstract】 In order to exert the maximal guiding value for clinical diagnosis and treatment,the molecular classification of endometrial carcinoma should be integrated sufficiently with traditional histopathology.DNA sequencing is a golden standard to detect POLE and TP53 gene mutation,and it is recommended to improve the molecular classification of endometrial carcinoma through sequencing as much as possible in qualified cases. The basic classification principles of multi-molecular typing should be fully understood to avoid misjudgment. Mismatch repair deficient subtypes are heterogeneous in molecular mechanism and clinical prognosis,so clinical information should be combined with histological type and molecular detection to exclude Lynch syndrome and further accurately stratify this subtype.No-specific molecular profile subtypes of different histological types have different driver molecular events and biological behaviors,and should not be simply treated as a homogeneous group of diseases when formulating treatment strategies. Isolated molecular classification that ignores clinical stage and histopathological type is not only incomplete,but may also mislead clinical diagnosis and treatment. Only systematic consideration based on integrated diagnosis of histopathology and molecular classification can maximize the benefit for patients.

【基金】 国家自然科学基金(82072882)
  • 【文献出处】 中国实用妇科与产科杂志 ,Chinese Journal of Practical Gynecology and Obstetrics , 编辑部邮箱 ,2023年11期
  • 【分类号】R737.33
  • 【下载频次】16
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