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Diagn Pathol. 2016 Nov 18;11(1):133.

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.

Author information

1
Institute of Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 224, 69120, Heidelberg, Germany.
2
Thoracic Oncology, Thoraxklinik, University of Heidelberg, and Translational Lung Research Center Heidelberg, 69120, Heidelberg, Germany.
3
German Center for Lung Research (DZL), Heidelberg, Germany.
4
German Cancer Consortium (DKTK), Heidelberg, Germany.
5
Institute of Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 224, 69120, Heidelberg, Germany. albrecht.stenzinger@med.uni-heidelberg.de.
6
German Cancer Consortium (DKTK), Heidelberg, Germany. albrecht.stenzinger@med.uni-heidelberg.de.

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:

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

PMID:
27863497
PMCID:
PMC5116222
DOI:
10.1186/s13000-016-0581-4
[Indexed for MEDLINE]
Free PMC Article

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