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作 者:Yi-Nan Shi Xiao-Rui Zhang Wei-Yu Ma Jing Lian Yan-Feng Liu Yi-Fan Li Wen-Hui Yang
机构地区:[1]Department of Gastroenterology and Hepatology,Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital,Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University,Taiyuan 030013,Shanxi Province,China [2]Department of Pathology,Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital,Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University,Taiyuan 030013,Shanxi Province,China [3]Department of General Surgery,Shanxi Province Cancer Hospital/Shanxi Hospital Affiliated to Cancer Hospital,Chinese Academy of Medical Sciences/Cancer Hospital Affiliated to Shanxi Medical University,Taiyuan 030013,Shanxi Province,China
出 处:《World Journal of Clinical Oncology》2024年第3期456-463,共8页世界临床肿瘤学杂志(英文版)
摘 要:BACKGROUND SMARCA4 is a component of chromatin remodeling of SWItch/sucrose-nonfermenting(SWI/SNF)complexes and plays an essential role in oncogenesis.SMARCA4-deficient malignancies arising from the gastrointestinal tract are rare and have a poor prognosis.There is no standard treatment for advanced and undifferentiated SMARCA4-deficient duodenal malignancies.Programmed death 1(PD-1)antibodies,known as immune checkpoint inhibitor antibodies,potentially play a role in treating gastrointestinal tract malignancies.CASE SUMMARY We present two patients with SMARCA4 deficiency and TP53 gene mutation in advanced undifferentiated carcinomas of the duodenum.For both patients,SMARCA4 deficiency was confirmed by immunohistochemical staining for the BRG1 protein,while TP53 gene mutations were observed via next-generation sequencing.Both patients were administered chemotherapy in combination with an anti-PD-1 antibody.The two patients exhibited completely different responses to treatment and had different prognoses.Case 1 experienced rapid progression after PD-1 infusion and chemotherapy,case 2 experienced a remarkable response after treatment,and the progression-free survival was more than 6 months.CONCLUSION This study described our clinical and pathological observations of SMARCA4-deficient advanced undifferentiated carcinoma of the duodenum.PD-1 combined with chemotherapy showed a certain efficacy in select patients,providing options for treating these highly malignant tumors.Patients with liver metastases had a worse prognosis than did those with only lymph node metastasis.
关 键 词:SMARCA4 deficiency Undifferentiated carcinomas CHEMOTHERAPY Programmed death 1 Immune checkpoint inhibitors Case report
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