Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Oncol. Mar 24, 2024; 15(3): 456-463
Published online Mar 24, 2024. doi: 10.5306/wjco.v15.i3.456
PD-1 antibody in combination with chemotherapy for the treatment of SMARCA4-deficient advanced undifferentiated carcinoma of the duodenum: Two case reports
Yi-Nan Shi, Xiao-Rui Zhang, Wei-Yu Ma, Jing Lian, Yan-Feng Liu, Yi-Fan Li, Wen-Hui Yang
Yi-Nan Shi, Xiao-Rui Zhang, Wei-Yu Ma, Yan-Feng Liu, Wen-Hui Yang, 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
Jing Lian, 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
Yi-Fan Li, 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
Author contributions: Shi YN and Zhang XR analyzed and interpreted the patient data regarding the disease and the diagnosis; Lian J performed the histological examination and diagnosis; Shi YN, Zhang XR, Ma WY and Liu YF handled the therapeutic management of the patient; Liu YF and Yang WH participated in the acquisition, analysis and drafting of the manuscript; all the authors read and approved the final manuscript.
Informed consent statement: The number of ethics approval points was JC2023012. The patients provided written informed consent to participate in this study.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Wen-Hui Yang, PhD, Associate Chief Physician, 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, No. 3 Zhigong Xin Street, Taiyuan 030013, Shanxi Province, China. yangwenhui-10012@163.com
Received: January 2, 2024
Peer-review started: January 2, 2024
First decision: January 10, 2024
Revised: January 23, 2024
Accepted: February 21, 2024
Article in press: February 21, 2024
Published online: March 24, 2024
Processing time: 79 Days and 21.6 Hours
Abstract
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.

Keywords: SMARCA4 deficiency; Undifferentiated carcinomas; Chemotherapy; Programmed death 1; Immune checkpoint inhibitors; Case report

Core Tip: SMARCA4-deficient malignancies arising from the gastrointestinal tract are rare and have a poor prognosis. We present two patients diagnosed with advanced duodenal undifferentiated carcinoma by immunohistochemical staining for SMARCA4 deficiency and TP53 gene mutations. Patients with high tumor mutational burden responded well to programmed death 1 antibodies in combination with chemotherapy, and those with liver metastases had a worse prognosis.