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
2017
Authors: Volckmar AL, Endris V, Bozorgmehr F, Lier C, Porcel C, Kirchner M, Leichsenring J, Penzel R, Thomas M, Schirmacher P, Warth A, Stenzinger A
CellNetworks People: Schirmacher Peter
Journal: Diagn Pathol. 2016 Nov 18;11(1):133.

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.