In: Diagnostic Pathology, 11 (2016), Nr. 133. pp. 1-6. ISSN 1746-1596

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PDF, English Download (1MB) | Lizenz: 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 by 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 underlies the terms of Creative Commons Attribution 3.0 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.