Pancreatic Ductal Adenocarcinoma Harboring Germline BRCA 2 Mutation, A Case Report and Review of The Literature

Lemstrova Radmila, Melichar Bohuslav, Mohelnikova Duchonova Beatrice
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Abstract

Introduction: Despite recent advances in the diagnosis and treatment of pancreatic ductal adenocarcinoma (PDAC) the prognosis of this tumor remains dismal. It is estimated that 5-10% of all PDAC patients harbor a germline BRCA-1 or BRCA-2 mutation. There is some evidence that BRCA-mutated PDAC cases respond to chemotherapy regimens based on platinum derivate and cross linking agents. Case report: Here we present a case of metastatic PDAC in a 41-year-old BRCA2 germline mutation carrier. The patient had a favorable response to systemic treatment, including a partial response even to the third line cisplatin monotherapy administered with palliative intent. Discussion: PDAC associated with BRCA mutation represents a special disease entity. Platinum derivates and cross linking agents should be considered even in the advanced palliative setting in these patients.
携带生殖系brca2突变的胰腺导管腺癌1例报告及文献复习
尽管胰腺导管腺癌(PDAC)的诊断和治疗近年来取得了进展,但这种肿瘤的预后仍然令人沮丧。据估计,5-10%的PDAC患者携带种系BRCA-1或BRCA-2突变。有一些证据表明,brca突变的PDAC病例对基于铂衍生物和交联剂的化疗方案有反应。病例报告:在这里,我们提出了一例转移性PDAC在一个41岁的BRCA2种系突变携带者。患者对全身治疗有良好的反应,包括对三线顺铂单药治疗的部分反应。讨论:与BRCA突变相关的PDAC是一种特殊的疾病实体。铂衍生物和交联剂即使在这些患者的晚期姑息治疗中也应考虑。
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