TY  - JOUR
A1  - Velizheva, Nadezda P.
A1  - Rechsteiner, Markus
A1  - Valtcheva, Nadejda
A1  - Freiberger, Sandra N.
A1  - Wong, Christine E.
A1  - Vrugt, Bart
A1  - Zhong, Qing
A1  - Wagner, Ulrich
A1  - Moch, Holger
A1  - Hillinger, Sven
A1  - Opitz, Isabelle
A1  - Soltermann, Alex
A1  - Wild, Peter Johannes
A1  - Tischler, Verena
T1  - Targeted next-generation-sequencing for reliable detection of targetable rearrangements in lung adenocarcinoma - a single center retrospective study
T2  - Pathology, research and practice
N2  - Oncogenic rearrangements leading to targetable gene fusions are well-established cancer driver events in lung adenocarcinoma. Accurate and reliable detection of these gene fusions is crucial to select the appropriate targeted therapy for each patient. We compared the targeted next-generation-sequencing Oncomine Focus Assay (OFA; Thermo Fisher Scientific) with conventional ALK FISH and anti-Alk immunohistochemistry in a cohort of 52 lung adenocarcinomas (10 ALK rearranged, 18 non-ALK rearranged, and 24 untested cases). We found a sensitivity and specificity of 100% for detection of ALK rearrangements using the OFA panel. In addition, targeted next generation sequencing allowed us to analyze a set of 23 driver genes in a single assay. Besides EML4-ALK (11/52 cases), we detected EZR-ROS1 (1/52 cases), KIF5B-RET (1/52 cases) and MET-MET (4/52 cases) fusions. All EML4-ALK, EZR-ROS1 and KIF5B-RET fusions were confirmed by multiplexed targeted next generation sequencing assay (Oncomine Solid Tumor Fusion Transcript Kit, Thermo Fisher Scientific). All cases with EML4-ALK rearrangement were confirmed by Alk immunohistochemistry and all but one by ALK FISH. In our experience, targeted next-generation sequencing is a reliable and timesaving tool for multiplexed detection of targetable rearrangements. Therefore, targeted next-generation sequencing represents an efficient alternative to time-consuming single target assays currently used in molecular pathology.
KW  - Next generation sequencing
KW  - Lung adenocarcinoma
KW  - Gene fusion
KW  - ALK gene
Y1  - 2018
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/47701
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-477016
SN  - 1618-0631
SN  - 0344-0338
N1  - © 2018 The Authors. Published by Elsevier GmbH. This is an open access article under the CC BY license (http://creativecommons.org/licenses/BY/4.0/).
VL  - 214
IS  - 4
SP  - 572
EP  - 578
PB  - Elsevier
CY  - München
ER  -