Pineoblastoma in a child with 22q11.2 deletion syndrome

Description 

A 4-year-old girl with a history of chromosome 22q11.2 deletion syndrome presented to the emergency department with 2–3 weeks of worsening emesis. CT of the head revealed a large pineal region calcified tumour with associated hydrocephalus. Contrast-enhanced MRI of the brain and spine status postexternal ventricular drain placement confirmed a pineal tumour with diffuse metastatic leptomeningeal spinal spread (figure 1A,B). The child had a normal MRI of the brain 2 years prior (figure 1C) as work-up for her developmental delay. The diagnosis of 22q11.2 deletion syndrome was made by chromosomal microarray testing, which revealed a 2.5 MB deletion of 22q11.2 that included the TBX1 gene. Neuropathology on a subtotal resection showed clusters and sheets of tightly packed, small, blue cells with oval or slightly angulated nuclei and scant cytoplasm, consistent with a primitive neuroectodermal tumour. The tumour showed no loss of expression of INI...

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