为描述高级别神经内分泌型宫颈癌（NECC）标本的基因改变状况并探讨独特基因改变与存活的潜在关联。回顾和分析了神经内分泌宫颈肿瘤登记处收集的高级别NECC妇女标本的肿瘤分子检测结果。肿瘤标本可以来自原发或转移部位，并可在初诊、治疗过程中或复发时获取。109名高级别NECC妇女的分子检测结果已经公布。最常见的基因突变是PIK3CA（18.5%的患者突变），TP53（17.4%）和MYC（14.5%）。其他可靶向的改变包括KIT（7.3%）、KRAS（7.3%）和PTEN（7.3%）的改变。带有RB1改变（6.4%）肿瘤的女性的中位总体生存期为13个月，而没有RB1改变的肿瘤女性的中位总体生存期为26个月（p = 0.003）。没有其他评估过的基因被证明与总体生存期有关。虽然没有在大多数高级别NECC患者的肿瘤标本中发现个体基因改变，但是这种疾病的大部分妇女将至少有一种可靶向改变。基于这些基因改变的治疗可能为当前治疗选择有限的复发性疾病的妇女提供额外的靶向治疗。携带RB1改变的肿瘤患者的总体生存期有所下降。 © 2023年。亚洲妇科肿瘤学会、韩国妇科肿瘤学会和日本妇科肿瘤学会。

To describe the gene alteration status in high-grade neuroendocrine cervical carcinoma (NECC) specimens and to explore the potential association of unique gene alterations with survival.Results from tumor-based molecular testing on specimens from women with high-grade NECC in the Neuroendocrine Cervical Tumor Registry were reviewed and analyzed. Tumor specimens could be from primary or metastatic sites and obtained at initial diagnosis, during treatment, or at recurrence.Molecular testing results were available for 109 women with high-grade NECC. The genes most frequently mutated were PIK3CA (mutated in 18.5% of patients), TP53 (17.4%), and MYC (14.5%). Other targetable alterations identified were alterations in KIT (7.3%), KRAS (7.3%), and PTEN (7.3%). Women with tumors having an RB1 alteration (6.4%) had a median overall survival (OS) of 13 months, compared to 26 months for women with tumors that did not have an RB1 alteration (p=0.003). None of the other genes evaluated were shown to be associated with OS.Although no individual alteration was found in a majority of tumor specimens from patients with high-grade NECC, a large proportion of women with this disease will have at least one targetable alteration. Treatments based on these gene alterations may offer additional targeted therapies for women with recurrent disease, who currently have very limited therapeutic options. Patients with tumors that harbor RB1 alterations have decreased OS.© 2023. Asian Society of Gynecologic Oncology, Korean Society of Gynecologic Oncology, and Japan Society of Gynecologic Oncology.