欧洲肿瘤内科学会 (ESMO) 指南将具有胃肠道特征的原发不明癌 (CUP) 分为有利亚组和不利亚组。有利的 CUP 受益于位点特异性化疗 (CT)，而不利的 CUP 的最佳治疗仍不确定。我们进行了一项单中心回顾性研究，以描述 2000 年 1 月至2023年8月。根据ESMO定义，通过免疫组织化学将有利的CUP定义为CK7-/CK20/CDX2；所有其他情况均被视为不利。主要终点是所有患者和不良组中晚期疾病的一线 CT 无进展生存期 (PFS)。 总共纳入 56 例患者，其中 46 例 (82%) 患有不良 CUP。中位随访 43.9 个月后，中位总生存期 (mOS) 为 11.8 个月 [95% 置信区间 (CI) 8.3-15.3 个月]。在单变量分析中，初次手术后腹膜转移和残留肿瘤的存在与较短的 OS 相关。中位 PFS (mPFS) 为 6.1 个月（95% CI 3.6-8.7 个月）。在不利的 CUP 亚组中，mOS 为 12.6 个月（95% CI 8.7-16.5 个月），mPFS 为 6.1 个月（95% CI 3.5-8.9 个月），并且所使用的 CT 方案均未显示出更好的 PFS。最相关的改变基因包括：KRAS (9/29; 31%)、BRAF (1/26; 4%)、NRAS (1/25; 4%)、TP53 (9/23; 39%)。胃肠道特征的特点是预后不良且缺乏用于个性化治疗的生物标志物。对于患有不利 CUP 的患者，没有任何 CT 方案在 PFS 方面具有优越性。版权所有 © 2024 作者。由爱思唯尔有限公司出版。保留所有权利。

Carcinoma of unknown primary (CUP) with a gastrointestinal profile is categorized by the European Society of Medical Oncology (ESMO) guidelines into favorable and unfavorable subsets. Favorable CUPs benefit from site-specific chemotherapy (CT), while the optimal treatment for unfavorable CUPs is still undefined.We conducted a single-center retrospective study to describe outcomes of patients with CUP with a gastrointestinal profile referred to our center from January 2000 to August 2023. Favorable CUPs were defined as CK7-/CK20+/CDX2+ by immunohistochemistry, according to the ESMO definition; all other cases were considered unfavorable. The main endpoint was the progression-free survival (PFS) of first-line CT for advanced disease in all patients and in the unfavorable group.A total of 56 patients were included, of whom 46 (82%) had unfavorable CUPs. After a median follow-up of 43.9 months, the median overall survival (mOS) was 11.8 months [95% confidence interval (CI) 8.3-15.3 months]. At univariate analysis, the presence of peritoneal metastases and residual tumor after primary surgery were associated with a shorter OS. The median PFS (mPFS) was 6.1 months (95% CI 3.6-8.7 months). In the unfavorable CUP subgroup, the mOS was 12.6 months (95% CI 8.7-16.5 months), the mPFS was 6.1 months (95% CI 3.5-8.9 months) and none of the CT regimens used showed to portend better PFS. The most relevant altered genes included: KRAS (9/29; 31%), BRAF (1/26; 4%), NRAS (1/25; 4%), TP53 (9/23; 39%).CUPs with a gastrointestinal profile are characterized by poor prognosis and the absence of biomarker for treatment personalization. No CT regimen was superior in terms of PFS in patients with unfavorable CUPs.Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.