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

作者：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^*

来源：Diagnostic Pathology, 2016, 11(1): 133.

DOI：10.1186/s13000-016-0581-4

• ALK
• FISH
• NGS
• immunohistochemistry
• Variant 1
• EML4-ALK

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.

• 出版日期2016-11-18