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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
Authors:Anna-Lena?Volckmar  Volker?Endris  Farastuk?Bozorgmehr  Clemens?Lier  Carlota?Porcel  Martina?Kirchner  Jonas?Leichsenring  Roland?Penzel  Michael?Thomas  Peter?Schirmacher  Arne?Warth  Email author" target="_blank">Albrecht?StenzingerEmail author
Institution:1.Institute of Pathology, University Hospital Heidelberg,Heidelberg,Germany;2.Thoracic Oncology, Thoraxklinik, University of Heidelberg, and Translational Lung Research Center Heidelberg,Heidelberg,Germany;3.German Center for Lung Research (DZL),Heidelberg,Germany;4.German Cancer Consortium (DKTK),Heidelberg,Germany
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.
Keywords:
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