A novel KIF5B-ALK fusion in a child with an atypical central nervous system inflammatory myofibroblastic tumour

Description  

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, CD34, smooth muscle actin, desmin, S100, CD1a, CD117, CD3, CD20, CD15, synaptophysin, glial fibrillary acidic protein (GFAP) and leucocyte...

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