伴有胚系BRCA2突变和严重胰腺脂膜炎的胰腺腺泡细胞癌：一例报告
Pancreatic Acinar Cell Carcinoma with Germline BRCA2 Mutation and Severe Pancreatic Panniculitis: A Case Report.
作者信息
Dreikhausen Lena, Schulte Nadine, Belle Sebastian, Weidner Philip, Moersdorf Johannes, Reissfelder Christoph, Ebert Matthias P, Zhan Tianzuo
机构信息
Department of Medicine II, University Medical Center Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Department of Dermatology, University Medical Center Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
出版信息
Visc Med. 2021 Oct;37(5):447-450. doi: 10.1159/000515267. Epub 2021 Mar 29.
Abstract
Pancreatic acinar cell carcinoma (ACC) is a rare malignant disease that displays distinct differences to pancreatic ductal adenocarcinoma. Here, we report the case of a patient with ACC and underlying breast cancer susceptibility gene 2 (BRCA2) germline mutation that developed severe pancreatic panniculitis (PP) during the course of the disease. The patient received a multimodal therapy including surgery, systemic chemotherapy, and targeted therapy with the PARP inhibitor olaparib, resulting in an overall survival of 47 months. Findings from this case are compared to the current knowledge on management of ACC and paraneoplastic PP.
摘要
胰腺腺泡细胞癌（ACC）是一种罕见的恶性疾病，与胰腺导管腺癌有明显差异。在此，我们报告一例患有ACC且携带乳腺癌易感基因2（BRCA2）种系突变的患者，该患者在疾病过程中发生了严重的胰腺脂膜炎（PP）。患者接受了包括手术、全身化疗以及使用聚（ADP - 核糖）聚合酶（PARP）抑制剂奥拉帕利进行靶向治疗在内的多模式治疗，总生存期为47个月。将该病例的研究结果与目前关于ACC和副肿瘤性PP治疗的知识进行了比较。
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2
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Am J Surg. 2020 Mar;219(3):522-526. doi: 10.1016/j.amjsurg.2019.10.013. Epub 2019 Oct 11.
3
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Semin Diagn Pathol. 2019 Jul;36(4):240-245. doi: 10.1053/j.semdp.2019.07.001. Epub 2019 Jul 5.
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