Glioblastoma in the setting of neurofibromatosis type 1

Case contributed by Dr Ernest Lekgabe

Presentation

Worsening headache. Background history of NF1.

Patient Data

Age: 30 years
Gender: Female

Irregular enhancing lesion involving the posteromedial right thalamus. This is contiguous with thick abnormal enhancing tissue along surface of thalamus that extends anteromedially filling the CSF space to the right of the pineal gland, abutting the adjacent internal cerebral vein, as well as extending inferolaterally throughout the right ambient cistern, surrounding the PCA.

Separate to this, there is a further enhancing lesion with ill-defined margins within the right dorsolateral pons that results in positive mass effect and slight effacement of the adjacent fourth ventricle. This measures up to 11 mm in coronal oblique plane. No hydrocephalus. The lesions are associated with surrounding FLAIR signal hyperintensity. No further intra or extra-axial lesion demonstrated.

MRI

Follow up MRI 4 weeks later

Mild progression since the previous study.

Case Discussion

Biopsy of the posteromedial right thalamic lesion was performed.

Sections show small fragments of a moderately hypercellular astrocytic glioma. Tumour cells show moderate nuclear and cellular pleomorphism. No mitotic figures or microvascular proliferation are seen. Areas of non-pallisaded tumour necrosis are present.

Immunohistochemistry results :

  • GFAP Positive
  • Nestin Positive (high)
  • NogoA Negative
  • IDH-1 R132H Negative (not mutated)
  • ATRX Negative (mutated)
  • p53 Positive
  • Topoisomerase labelling index: 12%.

DIAGNOSIS: IDH-1 wild type Glioblastoma (WHO Grade IV).

H3F3A (H3.3A) MUTATION STATUS Codons 27 and 34 of the H3F3A gene are sequenced by pyrosequencing. Results: Not detected.

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Case information

rID: 56461
Published: 5th Nov 2017
Last edited: 11th Jul 2018
Inclusion in quiz mode: Included

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