Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
J Gynecol Oncol. 2023 Jul;34(4):e50. doi: 10.3802/jgo.2023.34.e50. Epub 2023 Feb 9.
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 (mutated in 18.5% of patients), (17.4%), and (14.5%). Other targetable alterations identified were alterations in (7.3%), (7.3%), and (7.3%). Women with tumors having an 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 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 alterations have decreased OS.
描述高级别神经内分泌宫颈癌(NECC)标本中的基因改变状况,并探讨独特基因改变与生存之间的潜在关联。
对神经内分泌宫颈肿瘤登记处中高级别 NECC 女性肿瘤标本的基于肿瘤的分子检测结果进行了回顾和分析。肿瘤标本可以来自原发或转移部位,在初始诊断、治疗期间或复发时获得。
109 名高级别 NECC 女性的分子检测结果可用。最常发生突变的基因是 (18.5%的患者发生突变)、 (17.4%)和 (14.5%)。其他可靶向的改变包括 (7.3%)、 (7.3%)和 (7.3%)的改变。具有 改变的肿瘤患者(6.4%)的中位总生存期(OS)为 13 个月,而没有 改变的肿瘤患者的 OS 为 26 个月(p=0.003)。评估的其他基因均未显示与 OS 相关。
尽管在大多数高级别 NECC 患者的肿瘤标本中未发现任何单一改变,但该疾病的很大一部分女性将至少有一种可靶向的改变。基于这些基因改变的治疗方法可能为目前治疗选择非常有限的复发性疾病女性提供额外的靶向治疗。携带 改变的肿瘤患者的 OS 降低。