%0 Journal Article
%@ 1746-1596
%A Volckmar, Anna-Lena
%A Endris, Volker
%A Bozorgmehr, Farastuk
%A Lier, Clemens
%A Porcel, Carlota
%A Kirchner, Martina
%A Leichsenring, Jonas
%A Penzel, Roland
%A Thomas, Michael
%A Schirmacher, Peter
%A Warth, Arne
%A Stenzinger, Albrecht
%C London
%D 2016
%F heidok:22203
%I BioMed Central
%J Diagnostic Pathology
%N 133
%P 1-6
%T Next-generation sequencing facilitates detection of the classic E13-A20 EML4-ALK fusion in an ALK-FISH/IHC inconclusive biopsy of a stage IV lung cancer patient: a case report
%U https://archiv.ub.uni-heidelberg.de/volltextserver/22203/
%V 11
%X Background: Inhibition of the oncogenic fusion-gene EML4-ALK is a current first-line approach for patients with stage IV non-small cell lung cancer. While FISH was established as the gold standard for identifying these patients, there is accumulating evidence that other methods of detection, i.e., immunohistochemistry and next-generation sequencing (NGS), exist that may be equally successful. However, the concordance of these methods is under investigation.   Case presentation: Adding to the current literature, we here report a 56 year old female never-smoker with stage IV lung adenocarcinoma whose biopsy was IHC and FISH inconclusive but positive in NGS. Retroactive profiling of the resection specimen corroborated fusion reads obtained by NGS, FISH-positivity and showed weak ALK-positivity by IHC. Consequently, we diagnosed the case as ALK-positive rendering the patient eligible to crizotinib treatment.   Conclusions: With IHC on biopsy material only, this case would have been overlooked withholding effective therapy.