title: 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
creator: Volckmar, Anna-Lena
creator: Endris, Volker
creator: Bozorgmehr, Farastuk
creator: Lier, Clemens
creator: Porcel, Carlota
creator: Kirchner, Martina
creator: Leichsenring, Jonas
creator: Penzel, Roland
creator: Thomas, Michael
creator: Schirmacher, Peter
creator: Warth, Arne
creator: Stenzinger, Albrecht
subject: ddc-610
subject: 610 Medical sciences Medicine
description: 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.
publisher: BioMed Central
date: 2016
type: Article
type: info:eu-repo/semantics/article
type: NonPeerReviewed
format: application/pdf
identifier: https://archiv.ub.uni-heidelberg.de/volltextserverhttps://archiv.ub.uni-heidelberg.de/volltextserver/22203/1/13000_2016_Article_581.pdf
identifier: DOI:
identifier: urn:nbn:de:bsz:16-heidok-222032
identifier:   Volckmar, Anna-Lena ; Endris, Volker ; Bozorgmehr, Farastuk ; Lier, Clemens ; Porcel, Carlota ; Kirchner, Martina ; Leichsenring, Jonas ; Penzel, Roland ; Thomas, Michael ; Schirmacher, Peter ; Warth, Arne ; Stenzinger, Albrecht  (2016) 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.  Diagnostic Pathology, 11 (133).  pp. 1-6.  ISSN 1746-1596     
relation: https://archiv.ub.uni-heidelberg.de/volltextserver/22203/
rights: info:eu-repo/semantics/openAccess
rights: Please see front page of the work (Sorry, Dublin Core plugin does not recognise license id)
language: eng