BRIP1 突变型胰腺腺癌合并脑膜疾病。
Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma.
机构信息
Neurology, University of Michigan, Ann Arbor, Michigan, USA
Neurology, University of Michigan, Ann Arbor, Michigan, USA.
出版信息
BMJ Case Rep. 2022 Jun 8;15(6):e249837. doi: 10.1136/bcr-2022-249837.
Leptomeningeal disease is rare in pancreatic cancer and prognosis remains poor. Mutation profiles are now directing therapy to improve survival. We describe a case of leptomeningeal and brain metastasis in BRCA1 interacting protein 1, or BRIP1-mutated pancreatic adenocarcinoma with progression through several lines of chemotherapy and immunotherapy. A woman in her late 50s presented with metastatic pancreatic adenocarcinoma on liver biopsy. She achieved complete response after modified FOLFIRINOX and started a poly (ADP-ribose) polymerase (PARP) inhibitor for a BRIP1 mutation. She had recurrence at 9 months and started pembrolizumab (programmed cell death protein 1, or PD-1receptor antibody) for tumour mutational burden of 10 muts/Mb. At 10 months, she presented with lower extremity weakness and back pain. MRI revealed leptomeningeal metastases from T11 to cauda equina roots and right occipital metastasis. Cerebrospinal fluid studies revealed elevated pressure (290 mm HO) and protein (73 mg/dL) with negative cytology. Leptomeningeal carcinomatosis was diagnosed. She began palliative radiation but died at 11 months from initial diagnosis.
脑膜疾病在胰腺癌中较为罕见，预后仍然较差。突变图谱现在指导着治疗方法，以提高生存率。我们描述了一例 BRCA1 相互作用蛋白 1（或 BRIP1）突变的胰腺腺癌伴脑膜和脑转移的病例，该患者在经历了几线化疗和免疫治疗后出现进展。一名 50 多岁的女性因肝活检发现转移性胰腺腺癌而就诊。她在接受改良的 FOLFIRINOX 治疗后完全缓解，并开始使用聚（ADP-核糖）聚合酶（PARP）抑制剂治疗 BRIP1 突变。9 个月时复发，开始使用 pembrolizumab（程序性死亡蛋白 1 或 PD-1 受体抗体）治疗肿瘤突变负担为 10 个突变/Mb。10 个月时，她出现下肢无力和背痛。MRI 显示从 T11 到马尾神经根和右枕叶的脑膜转移。脑脊液研究显示压力升高（290mm HO）和蛋白升高（73mg/dL），细胞学检查为阴性。诊断为脑膜癌病。她开始接受姑息性放疗，但在初始诊断后 11 个月死亡。
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