胰腺神经内分泌瘤（PDNEC）是胰腺癌的一种亚型，包括小细胞和大细胞神经内分泌癌亚型，并且在生物学和预后方面与更常见的胰腺腺癌相比有明显的不同。直到最近，对于这种癌症类型的基因组特征一直缺乏数据。我们描述了一个男性患者，诊断为PDNEC并具有广泛的肝转移病灶。基因组分析显示，该患者具有BRCA2的生殖系致病性变异，并且BRCA2野生型等位基因发生了体细胞失偶。在经历铂类化疗（以及免疫治疗的加入）取得良好反应后，患者接受了奥拉帕尼维的维护治疗，进一步减少了随访成像（图1）。在使用奥拉帕尼维进行系统控制十七个月后，患者出现了症状性中枢神经系统转移，其中含有BRCA2逆转突变。没有观察到其他疾病进展部位。在此，我们通过包括全面基因组测序在内的个性化管理方法，报告了一位胰腺PDNEC患者的卓越疗效。 © 2023年作者。

Poorly differentiated pancreatic neuroendocrine tumors (PDNEC), are a subtype of pancreatic cancer encompassing both small cell and large cell neuroendocrine carcinoma subtypes, and are characterized as distinct in terms of biology and prognosis compared to the more common pancreatic adenocarcinoma. Until recently, there has been a paucity of data on the genomic features of this cancer type. We describe a male patient diagnosed with PDNEC and extensive metastatic disease in the liver at diagnosis. Genomic analysis demonstrated a germline pathogenic variant in BRCA2 with somatic loss-of-heterozygosity of the BRCA2 wild-type allele. Following a favorable response to platinum-based chemotherapy (and the addition of immunotherapy), the patient received maintenance therapy with olaparib, which resulted in a further reduction on follow-up imaging (Fig. 1). After seventeen months of systemic control with olaparib, the patient developed symptomatic central nervous system metastases, which harboured a BRCA2 reversion mutation. No other sites of disease progression were observed. Herein, we report an exceptional outcome through the incorporation of a personalized management approach for a patient with a pancreatic PDNEC, guided by comprehensive genomic sequencing.© 2023. The Author(s).