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- 胆囊癌中 - 改变的临床和基因组特征:探索美国和智利队列之间的差异。

Clinical and Genomic Characterization of -Altered Gallbladder Cancer: Exploring Differences Between an American and a Chilean Cohort.

机构信息

Department of Hematology and Oncology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY.

出版信息

JCO Glob Oncol. 2024 Oct;10:e2400090. doi: 10.1200/GO.24.00090. Epub 2024 Oct 10.

DOI:10.1200/GO.24.00090
PMID:39388662
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11487998/
Abstract

PURPOSE

Gallbladder cancer (GBC) is a biliary tract malignancy characterized by its high lethality. Although the incidence of GBC is low in most countries, specific areas such as Chile display a high incidence. Our collaborative study sought to compare clinical and molecular features of GBC cohorts from Chile and the United States with a focus on alterations.

METHODS

Patients were accrued at Memorial Sloan Kettering Cancer Center (MSK) or the Pontificia Universidad Católica de Chile (PUC). Clinical information was retrieved from medical records. Genomic analysis was performed by the next-generation sequencing platform MSK-Integrated Mutation Profiling of Actionable Cancer Targets.

RESULTS

A total of 260 patients with GBC were included, 237 from MSK and 23 from PUC. There were no significant differences in the clinical characteristics between the patients identified at MSK and at PUC except in terms of lithiasis prevalence which was significantly higher in the PUC cohort (85% 44%; = .0003). The prevalence of alterations was comparable between the two cohorts (15% 9%; = .42). Overall, alterations were present in 14% of patients (8% with amplification, 4% mutation, 1.5% concurrent amplification and mutation, and 0.4% fusion). Notably, patients with GBC that harbored alterations had better overall survival (OS) versus their -wild type counterparts (22.3 months 11.8 months; = .024).

CONCLUSION

The prevalence of lithiasis seems to be higher in Chilean versus US patients with GBC. A similar prevalence of alterations of overall 14% and better OS suggests that a proportion of them could benefit from human epidermal growth factor receptor type 2-targeted therapies. The smaller cohort of Chile, where the disease prevalence is higher, is a reminder and invitation for the need of more robust next-generation sequencing analyses globally.

摘要

目的

胆囊癌(GBC)是一种具有高致死性的胆道恶性肿瘤。尽管在大多数国家,GBC 的发病率较低,但智利等特定地区的发病率较高。我们的合作研究旨在比较来自智利和美国的 GBC 队列的临床和分子特征,重点是 改变。

方法

患者在纪念斯隆凯特琳癌症中心(MSK)或智利天主教大学(PUC)就诊。临床信息从病历中提取。基因组分析通过下一代测序平台 MSK-Integrated Mutation Profiling of Actionable Cancer Targets 进行。

结果

共纳入 260 例 GBC 患者,其中 237 例来自 MSK,23 例来自 PUC。在 MSK 和 PUC 就诊的患者的临床特征除结石病患病率外无显著差异,后者在 PUC 队列中显著更高(85% 44%; =.0003)。两个队列的 改变发生率相当(15% 9%; =.42)。总体而言,14%的患者存在 改变(8%的患者存在 扩增,4%的患者存在 突变,1.5%的患者同时存在扩增和突变,0.4%的患者存在 融合)。值得注意的是,携带 改变的 GBC 患者的总生存期(OS)优于野生型患者(22.3 个月 11.8 个月; =.024)。

结论

与美国 GBC 患者相比,智利 GBC 患者的结石病患病率似乎更高。总体 14%的 改变发生率和更好的 OS 表明,其中一部分患者可能受益于表皮生长因子受体 2 靶向治疗。智利的队列较小,但疾病患病率较高,这提醒并邀请全球需要更强大的下一代测序分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/fb6b7be837ca/go-10-e2400090-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/f24666d80d6d/go-10-e2400090-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/9a3af643a35a/go-10-e2400090-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/9101a023f24e/go-10-e2400090-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/858c917cffcd/go-10-e2400090-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/ed8d6131cbb3/go-10-e2400090-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/fb6b7be837ca/go-10-e2400090-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/f24666d80d6d/go-10-e2400090-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/ccbf280afa71/go-10-e2400090-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/9a3af643a35a/go-10-e2400090-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/9101a023f24e/go-10-e2400090-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/858c917cffcd/go-10-e2400090-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/ed8d6131cbb3/go-10-e2400090-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d8c7/11487998/fb6b7be837ca/go-10-e2400090-g007.jpg

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