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A novel KIF5B-ALK fusion in a child with an atypical central nervous system inflammatory myofibroblastic tumour
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  1. Marco Maruggi1,
  2. Denise M Malicki2,
  3. Michael L Levy3,
  4. John Ross Crawford4
  1. 1Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA
  2. 2Department of Pathology, Rady Children’s Hospital University of California San Diego, San Diego, California, USA
  3. 3Department of Neurosurgery, University of California San Diego, San Diego, California, USA
  4. 4Department of Neurosciences and Pediatrics, University of California San Diego, San Diego, California, USA
  1. Correspondence to Dr John Ross Crawford, jrcrawford{at}ucsd.edu

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An 11-year-old girl presented with global developmental delay. As part of her routine work-up for her developmental disability, MRI of the brain was performed and demonstrated a contrast-enhancing lesion with reduced diffusivity in the right parietal lobe (figure 1). A stereotactic robotic-assisted needle biopsy revealed microglial proliferation and lymphocytic inflammation, indicating potential microglioma or gliofibroma; however, a more definitive diagnosis was not established given the limited tissue. Early repeat MRI showed areas of progression, and gross total resection was performed. The pathology demonstrated a moderately cellular proliferation of spindle cells with scattered mitotic figures, and a mixed inflammatory infiltrate of scattered lymphocytes, plasma cells and eosinophils (figure 2A). The areas of nodular spindle cell proliferation were diffusely immunopositive for CD68 and negative for CD30, …

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