eprintid: 22203
rev_number: 13
eprint_status: archive
userid: 1589
dir: disk0/00/02/22/03
datestamp: 2016-11-22 13:57:17
lastmod: 2024-05-25 16:08:33
status_changed: 2016-11-22 13:57:17
type: article
metadata_visibility: show
creators_name: Volckmar, Anna-Lena
creators_name: Endris, Volker
creators_name: Bozorgmehr, Farastuk
creators_name: Lier, Clemens
creators_name: Porcel, Carlota
creators_name: Kirchner, Martina
creators_name: Leichsenring, Jonas
creators_name: Penzel, Roland
creators_name: Thomas, Michael
creators_name: Schirmacher, Peter
creators_name: Warth, Arne
creators_name: Stenzinger, Albrecht
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
subjects: ddc-610
divisions: i-718000
divisions: i-912000
divisions: i-950900
abstract: 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.
date: 2016
publisher: BioMed Central
id_scheme: DOI
ppn_swb: 1654357529
own_urn: urn:nbn:de:bsz:16-heidok-222032
language: eng
bibsort: VOLCKMARANNEXTGENERA2016
full_text_status: public
publication: Diagnostic Pathology
volume: 11
number: 133
place_of_pub: London
pagerange: 1-6
issn: 1746-1596
citation:   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     
document_url: https://archiv.ub.uni-heidelberg.de/volltextserver/22203/1/13000_2016_Article_581.pdf