Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation

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 first...

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Main Authors: Fan Meng, Le Lu, Yuan Tan, Qianqian Duan, Hongwei Lu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Oncology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2021.757965/full
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spelling doaj-afd57fb59f1b4ef7b105909024f43be32021-10-04T08:50:19ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2021-10-011110.3389/fonc.2021.757965757965Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA MutationFan Meng0Le Lu1Yuan Tan2Yuan Tan3Yuan Tan4Qianqian Duan5Qianqian Duan6Qianqian Duan7Hongwei Lu8Department of General Surgery, The Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaDepartment of General Surgery, The Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaThe Medical Department, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, ChinaNanjing Simcere Medical Laboratory Science Co., Ltd., Nanjing, ChinaThe State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, ChinaThe Medical Department, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, ChinaNanjing Simcere Medical Laboratory Science Co., Ltd., Nanjing, ChinaThe State Key Lab of Translational Medicine and Innovative Drug Development, Jiangsu Simcere Diagnostics Co., Ltd., Nanjing, ChinaDepartment of General Surgery, The Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, ChinaPancreatic 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.https://www.frontiersin.org/articles/10.3389/fonc.2021.757965/fullPDACKANK1-ALKUPP2-NTRK3pathogenetic BRCA1 mutationnext-generation sequencing
collection DOAJ
language English
format Article
sources DOAJ
author Fan Meng
Le Lu
Yuan Tan
Yuan Tan
Yuan Tan
Qianqian Duan
Qianqian Duan
Qianqian Duan
Hongwei Lu
spellingShingle Fan Meng
Le Lu
Yuan Tan
Yuan Tan
Yuan Tan
Qianqian Duan
Qianqian Duan
Qianqian Duan
Hongwei Lu
Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation
Frontiers in Oncology
PDAC
KANK1-ALK
UPP2-NTRK3
pathogenetic BRCA1 mutation
next-generation sequencing
author_facet Fan Meng
Le Lu
Yuan Tan
Yuan Tan
Yuan Tan
Qianqian Duan
Qianqian Duan
Qianqian Duan
Hongwei Lu
author_sort Fan Meng
title Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation
title_short Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation
title_full Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation
title_fullStr Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation
title_full_unstemmed Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation
title_sort case report: a pancreatic ductal adenocarcinoma patient with concurrent targetable somatic novel kank1-alk, upp2-ntrk3 fusion, and pathogenetic germline brca mutation
publisher Frontiers Media S.A.
series Frontiers in Oncology
issn 2234-943X
publishDate 2021-10-01
description 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.
topic PDAC
KANK1-ALK
UPP2-NTRK3
pathogenetic BRCA1 mutation
next-generation sequencing
url https://www.frontiersin.org/articles/10.3389/fonc.2021.757965/full
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