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A rare case of an EML4-ALK-rearranged lung adenocarcinoma missed by in situ-hybridisation but detected by RT-PCR
  1. A Roth1,
  2. A Streubel1,
  3. C Grah2,
  4. S Stephan-Falkenau1,
  5. T Mairinger1,
  6. F Wagner1
  1. 1 Institut für Gewebediagnostik/MVZ, HELIOS Klinikum Emil von Behring, Berlin, Germany
  2. 2 Pneumologie/Lungenkrebszentrum, Gemeinschaftskrankenhaus Havelhöhe, Berlin, Germany
  1. Correspondence to Dr Florian Wagner, Institut für Gewebediagnostik/MVZ, HELIOS Klinikum Emil von Behring, Walterhöferstrasse 11, 14165 Berlin, Germany; florian.wagner{at}

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Current diagnostic approaches to detect anaplastic lymphoma kinase (ALK) rearrangements in lung carcinoma include in situ-hybridisation (either fluorescent - FISH - or chromogenic - CISH), immunohistochemistry (IHC), and reverse transcription PCR (RT-PCR). These methods are applied either stand-alone, or in combinations. FISH is currently regarded as the gold standard by the majority of authors,1 and a positive test is required for administration of the FDA-approved ALK-inhibitor Crizotinib.

Case presentation

A 61-year-old woman with history of heavy smoking presented with a large pleural effusion and symptoms of increasing dyspnoea and cough. Diagnostic imaging by CT scan revealed a left upper lobe lung lesion with a maximum diameter of 33 mm (figure 1) and metastatic seed to the pleura, staged at cT3b cN0 cM1a (PLE). Pleural effusion and needle core biopsy specimens of parietal pleura were collected and investigated cytologically, morphologically and by standard IHC, resulting in the diagnosis of a CK7- and TTF1-positive lung adenocarcinoma with papillary pattern. Standard molecular …

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  • Contributors CG examined the patient and took biopsy samples. SS-F and TM were responsible for routine pathology and made the diagnosis. FW, AS, and AR performed the experiments and analysed the data. FW drafted and wrote the manuscript, and all authors revised it critically. All authors read and approved the final manuscript. Everyone who fulfils criteria for authorship has been included.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.