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伴有V600E激活突变的转移性胰腺癌:一例报告。

Metastatic pancreatic cancer with activating V600E mutations: A case report.

作者信息

Li Fang, Shen Feng

机构信息

Department of Medical Oncology, Zhongshan Hospital (Xiamen), Fudan University, Xiamen 361015, Fujian Province, China.

Xiamen Clinical Research Center for Cancer, Xiamen 361015, Fujian Province, China.

出版信息

World J Clin Cases. 2025 Jun 6;13(16):101665. doi: 10.12998/wjcc.v13.i16.101665.

Abstract

BACKGROUND

Pancreatic cancer (PC) is a highly malignant tumor that is resistant to chemotherapy, radiotherapy and immunotherapy. Combination chemotherapy regimens are the standard first-line regimens for metastatic disease, with a median survival < 12 months. Although recurrent genomic alterations such as the V600E mutation have been reported in PC, evidence supporting the clinical effectiveness of molecularly guided targeted therapies is limited.

CASE SUMMARY

We report a case of a 33-year-old male who was referred to our department with weight loss of 5 kg in 2 months, anorexia and abdominal pain. Imaging showed extensive lesions involving the pancreas, liver, bones, muscles and lymph nodes accompanied by elevated carbohydrate antigen 19-9 (CA19-9) and carcinoembryonic antigen (CEA). Biopsy yielded a diagnosis of PC. Treatment with gemcitabine and nab-paclitaxel was initiated, but the disease progressed in < 2 months even though the patient's general condition improved. Molecular testing revealed the presence of mutation. Dabrafenib/trametinib combination therapy was introduced, and the patient was treated for 2 months with a decrease in CA19-9 and CEA levels, but he died after 2 months of treatment.

CONCLUSION

alterations are infrequent in PC. This case highlights the significance of molecular profiling in patients with PC, especially in patients with a high tumor burden.

摘要

背景

胰腺癌(PC)是一种高度恶性的肿瘤,对化疗、放疗和免疫治疗均具有抗性。联合化疗方案是转移性疾病的标准一线治疗方案,中位生存期<12个月。尽管已报道PC中存在复发性基因组改变,如V600E突变,但支持分子导向靶向治疗临床有效性的证据有限。

病例摘要

我们报告一例33岁男性患者,因2个月内体重减轻5kg、厌食和腹痛转诊至我科。影像学检查显示胰腺、肝脏、骨骼、肌肉和淋巴结广泛受累,伴有糖类抗原19-9(CA19-9)和癌胚抗原(CEA)升高。活检确诊为PC。开始使用吉西他滨和白蛋白结合型紫杉醇治疗,但尽管患者一般状况有所改善,但疾病在<2个月内进展。分子检测发现存在 突变。引入达拉非尼/曲美替尼联合治疗,患者接受治疗2个月,CA19-9和CEA水平下降,但治疗2个月后死亡。

结论

改变在PC中并不常见。本病例突出了PC患者分子谱分析的重要性,尤其是肿瘤负荷高的患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba01/11843067/c71cfb0dc298/101665-g001.jpg

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