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 ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-12

AUTHORS

Anna-Lena Volckmar, Volker Endris, Farastuk Bozorgmehr, Clemens Lier, Carlota Porcel, Martina Kirchner, Jonas Leichsenring, Roland Penzel, Michael Thomas, Peter Schirmacher, Arne Warth, Albrecht Stenzinger

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. More... »

PAGES

133

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13000-016-0581-4

DOI

http://dx.doi.org/10.1186/s13000-016-0581-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052309807

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27863497


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