肿瘤突变负荷较高的 HER2 阳性胆囊癌对 Pembrolizumab 的异常反应

IF 1.6 Q4 ONCOLOGY Journal of Gastrointestinal Cancer Pub Date : 2024-12-01 Epub Date: 2024-09-10 DOI:10.1007/s12029-024-01112-9
Akinori Sasaki, Satoru Nakajima, Yasuaki Motomura
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引用次数: 0

摘要

目的:由于有效的化疗方案有限,包括胆囊癌在内的晚期胆管癌患者通常预后较差。针对胆管癌患者的基因型定向治疗领域正在取得进展。方法:我们在此报告了一例确诊为人表皮生长因子受体-2(HER2)阳性和肿瘤突变负荷高(TMB-H)胆管癌的 67 岁男性患者。在吉西他滨和S-1疗法出现抗药性后,通过全面的基因组图谱分析确定了HER2阳性和TMB-H特征。由于当时没有针对HER2阳性癌症的临床试验,患者接受了临床上用于TMB-H实体瘤的pembrolizumab治疗:结果:接受 pembrolizumab 治疗后,患者的原发肿瘤和肝转移瘤明显缩小。到目前为止,该患者已接受了约10个月的pembrolizumab治疗:据我们所知,这是第一份显示 pembrolizumab 对同时携带 HER2 阳性和 TMB-H 的胆管癌患者有疗效的报告。
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Exceptional Response to Pembrolizumab in HER2-Positive Gallbladder Carcinoma with High Tumor Mutational Burden.

Purpose: Patients with advanced cholangiocarcinoma, including gallbladder cancer, typically have a poor prognosis owing to limited effective chemotherapy options. The field of genotype-directed therapy in patients with cholangiocarcinoma is advancing. However, limited clinical data are currently available to evaluate the efficacy of molecularly targeted therapy.

Methods: Herein, we report the case of a 67-year-old man diagnosed with human epidermal growth factor receptor-2 (HER2)-positive and tumor mutation burden-high (TMB-H) cholangiocarcinoma. The HER2-positive and TMB-H characteristics were identified using comprehensive genomic profiling after showing resistance to gemcitabine and S-1 therapy. In the absence of clinical trials for HER2-positive cancer at that time, the patient was treated with pembrolizumab, which is used for TMB-H solid tumors in clinical practice.

Results: After receiving pembrolizumab, the patient experienced significant shrinkage in the primary tumor and liver metastases. Thus far, the patient has been receiving pembrolizumab for approximately 10 months.

Conclusion: To our knowledge, this is the first report showing the efficacy of pembrolizumab in a patient with cholangiocarcinoma harboring both HER2-positive and TMB-H.

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来源期刊
CiteScore
3.80
自引率
0.00%
发文量
121
期刊介绍: The Journal of Gastrointestinal Cancer is a multidisciplinary medium for the publication of novel research pertaining to cancers arising from the gastrointestinal tract.The journal is dedicated to the most rapid publication possible.The journal publishes papers in all relevant fields, emphasizing those studies that are helpful in understanding and treating cancers affecting the esophagus, stomach, liver, gallbladder and biliary tree, pancreas, small bowel, large bowel, rectum, and anus. In addition, the Journal of Gastrointestinal Cancer publishes basic and translational scientific information from studies providing insight into the etiology and progression of cancers affecting these organs. New insights are provided from diverse areas of research such as studies exploring pre-neoplastic states, risk factors, epidemiology, genetics, preclinical therapeutics, surgery, radiation therapy, novel medical therapeutics, clinical trials, and outcome studies.In addition to reports of original clinical and experimental studies, the journal also publishes: case reports, state-of-the-art reviews on topics of immediate interest or importance; invited articles analyzing particular areas of pancreatic research and knowledge; perspectives in which critical evaluation and conflicting opinions about current topics may be expressed; meeting highlights that summarize important points presented at recent meetings; abstracts of symposia and conferences; book reviews; hypotheses; Letters to the Editors; and other items of special interest, including:Complex Cases in GI Oncology:  This is a new initiative to provide a forum to review and discuss the history and management of complex and involved gastrointestinal oncology cases. The format will be similar to a teaching case conference where a case vignette is presented and is followed by a series of questions and discussion points. A brief reference list supporting the points made in discussion would be expected.
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