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Case Study 36

Case Study 36. Henry Armah, M.D., M.Phil. Question 1. Clinical history: 14-year-old male with history of persistent headache and vomiting. Describe the abnormal cranial MRI findings?. Axial T1. Sag T1+C. Answer.

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Case Study 36

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  1. Case Study 36 Henry Armah, M.D., M.Phil.

  2. Question 1 Clinical history: 14-year-old male with history of persistent headache and vomiting. Describe the abnormal cranial MRI findings?

  3. Axial T1

  4. Sag T1+C

  5. Answer Contrast enhancing tumor in the fourth ventricle anteriorly impinging upon the lower pons, with no discernible hydrocephalus and no discernible meningeal enhancement.

  6. Question 2 What are your differential diagnoses based on the patients’ age and the radiological findings?

  7. Answer • Medulloblastoma • Atypical teratoid/rhabdoid tumor • Ependymoma • Choroid plexus carcinoma • Pilocytic astrocytoma

  8. Question 3 The neurosurgeon performs a craniotomy with biopsy of the mass and requested an intraoperative consultation. Describe the microscopic findings on this smear slide? Click here to view slide.

  9. Answer Neoplastic proliferation of round-to-oval pleomorphic tumor cells with scant cytoplasm, nuclear molding, scattered mitotic figures and numerous apoptotic bodies.

  10. Question 4 What is your intraoperative diagnosis? (A: Category such as Defer, Reactive/Non-neoplastic, or Neoplastic; B: More specific diagnosis or statement)

  11. Answer • Neoplasm • Medulloblastoma

  12. Question 5 Subsequently, the mass was almost completely excised. The permanent section has returned from histology. Describe the microscopic findings on this H&E slide? Click here to view slide.

  13. Answer Neoplastic proliferation of densely packed cells with round-to-oval or carrot-shaped hyperchromatic nuclei surrounded by scant cytoplasm. The tumor cells predominantly form sheets with vague areas of Homer-Wright rosettes. The vast majority of tumor cells show marked nuclear pleomorphism, nuclear molding, and cell-cell wrapping. Mitotic figures, including atypical ones, are readily identified. Numerous apoptotic bodies are noted. There is no evidence of nodularity.

  14. Question 6 What additional studies would you need to rule out other important differential diagnoses and confirm the final diagnosis in this case?

  15. Answer GFAP, INI-1, Synaptophysin, Neurofilament, EMA, CAM5.2, and Ki-67 (MIB-1).

  16. Question 7 What do you see on this GFAP immunostain slide? Click here to view slide.

  17. Answer GFAP is negative in tumor cells, and highlights occasional entrapped reactive astrocytes.

  18. Question 8 What do you see on this INI-1 immunostain slide? Click here to view slide.

  19. Answer INI-1 is strongly and diffusely positive in the nuclei of tumor cells.

  20. Question 9 What do you see on this Synaptophysin immunostain slide? Click here to view slide.

  21. Answer Synaptophysin is focally and weakly positive in tumor cells.

  22. Question 10 What do you see on this Neurofilament immunostain slide? Click here to view slide.

  23. Answer Neurofilament is negative in tumor cells.

  24. Question 11 What do you see on this EMA immunostain slide? Click here to view slide.

  25. Answer EMA is negative in tumor cells.

  26. Question 12 What do you see on this CAM5.2 immunostain slide? Click here to view slide.

  27. Answer CAM5.2 is negative in tumor cells.

  28. Question 13 What do you see on this Ki-67 (MIB-1) immunostain slide? Click here to view slide.

  29. Answer Ki-67 (MIB-1) is positive in the nuclei of 40-50% of tumor cells.

  30. Question 14 What is your final diagnosis in this case?

  31. Answer Anaplastic/Large Cell Medulloblastoma.

  32. Question 15 What is the corresponding WHO grade of this lesion?

  33. Answer WHO Grade 4.

  34. Question 16 Which of the following cytogenetic abnormality is associated with this lesion? • t (1;13) • monosomy 22 • i (17)q • 22q- • t (1;13)

  35. Answer C. i (17)q

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