ATI Hematologic System Test Related

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An 8-year-old boy undergoes a resection of a tumor in the right cerebrum next to the lateral ventricle (supratentorial). The pathologist feels the histology is most consistent with an ependymoma. The tumor is sent for advanced molecular and genetic testing. Which of the following findings would further support a diagnosis of ependymoma?

  • A. BRAFKIAA1549 fusion
  • B. BRAFV600E mutation
  • C. RELA fusion
  • D. H3K27M mutation
Correct Answer: C

Rationale: The correct answer is C: RELA fusion. Ependymomas are known to have specific genetic alterations, including RELA fusions. The fusion of RELA gene is a hallmark genetic abnormality observed in certain subtypes of ependymomas, aiding in the diagnosis. Conversely, choices A, B, and D are associated with other types of brain tumors such as pilocytic astrocytoma (A), melanoma (B), and diffuse intrinsic pontine glioma (D), respectively. These genetic alterations are not characteristic of ependymomas, making them incorrect choices in this context.