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Case based discussions
A patient with complex multiple genomic ALK alterations
  1. Xin Liu1,
  2. Shawn J Rice1,
  3. Carlos A Jamis-Dow2,
  4. Catherine Abendroth3,
  5. Siraj Ali4,
  6. Salah Almokadem1,
  7. Chandra P Belani1
  1. 1Penn State Hershey Cancer Institute, Penn State College of Medicine, Hershey, Pennsylvania, USA
  2. 2Department of Radiology, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA
  3. 3Department of Pathology, Penn State College of Medicine, Hershey, Pennsylvania, USA
  4. 4Foundation Medicine, Cambridge, Massachusetts, USA
  1. Correspondence to Dr Chandra P Belani, Department of Medicine, Penn State College of Medicine, 500 University Dr., Hershey, PA 17033, USA; cbelani{at}

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Lung cancer is a disease with a heterogeneous complement of mutations.1 Although point mutations and deletions are among the most common types of mutations in lung cancer, translocations in the ALK gene, which occur in approximately 5% of lung adenocarcinomas, exist predominantly in non-smokers. ALK translocations gained notoriety recently because they are targets for the kinase inhibitor crizotinib (Xalkori).1 Crizotinib has exhibited profound efficacy and has obtained FDA (United States Food and Drug Administration) approval for use in patients with non-small cell lung cancer (NSCLC) with ALK translocation, as determined by a break-apart fluorescent in situ hybridisation (FISH) assay.2 Here we report a case where a patient with a complicated ALK genotype, including an EML4-ALK variant 5a/b translocation and ALK tandem duplication with response to crizotinib treatment.

Case presentation

A 70-year-old female patient with complaints of progressive dyspnoea underwent a chest CT scan, which revealed a 6 cm spiculated mass with extrinsic compression of the trachea and the right main stem bronchus. PET-CT (positron emission tomography-CT) scan confirmed the findings of the CT scan and the mass was metabolically active, and there was presence of metastases in the lymph nodes. Histological evaluation along with immunostaining revealed primary lung adenocarcinoma. An MRI of the brain revealed nodular intraparenchymal metastatic deposits in the left cerebellar hemisphere, left inferior cerebellar vermus and the left superior parietal cortex. The patient received palliative radiation to the lung mass and gamma knife treatment for the brain metastasis. Genetic profiling performed on …

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  • XL and SJR contributed equally.

  • Competing interests SA is an employee and has equity interest in Foundation Medicine.

  • Patient consent Obtained.

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