Abstract
Pancreatic ductal adenocarcinoma (PDAC) is presently one of the cancers with the worst survival rates. The current treatment options for PDAC are relatively scarce due to insufficient understanding of molecular characteristics and subtypes of PDAC. Based on next-generation sequencing (NGS), we firstly presented a case about a KRAS wild-type pancreatic ductal adenocarcinoma patient harboring a concurrent targetable rare somatic novel KANK1-ALK, UPP2-NTRK3 fusion, and pathogenetic germline BRCA mutation. These two novel fusion statuses were assayed by immunohistochemistry (IHC) and fluorescent in situ hybridization (FISH). Our findings demonstrated that comprehensive and systematic screening of PDAC for actionable genomic alteration may substantially improve the therapeutic prospects for a sizeable fraction of patients with PDAC. To improve the management of PDAC in an era of precision medicine, it is important to identify ALK or NTRK fusion-positive and pathogenic germline mutation subsets of patients who can benefit from targeted therapies.
Highlights
Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest malignancies with a high mortality rate and poor survival across all stages [1]
Since anaplastic lymphoma kinase (ALK) gene fusion was first identified in pancreatic cancer in 2017, so far, only sporadic ALK translocation cases have been reported in PDAC [5, 6]
It is worth mentioning that KANK1-ALK and UPP2-NTRK3 fusions have not been reported in any other solid tumor
Summary
Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest malignancies with a high mortality rate and poor survival across all stages [1]. PDAC Harboring Multiple Actionable Mutations and Drug Administration (FDA), but high-quality evidence is lacking in pancreatic cancer [2]. Since ALK gene fusion was first identified in pancreatic cancer in 2017, so far, only sporadic ALK translocation cases have been reported in PDAC [5, 6]. Since a few numbers of PDAC patients harbor target driver gene, the form of mutation, the efficacy of targeted therapy, and prognosis need more attention and research [10]. In this case, we first reported targeted comutation of somatic novel KANK1-ALK, UPP2 intergenic NTRK3 fusion, and pathogenetic germline BRCA1 mutation in a pancreatic ductal adenocarcinoma patient. As far as we know, both ALK and NTRK mutations have only less than 1% mutation frequency in PDAC, while concomitant multiple targetable variations have not been reported
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