Ganglioglioma

From Libre Pathology
Jump to navigation Jump to search
The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.
Ganglioglioma
Diagnosis in short
LM DDx piloid gliosis, pilocytic astrocytoma, DNT
Stains PAS-D +ve (eosinophilic granular bodies)
IHC GFAP +ve, Synapto +ve
Gross usually temporal +/-cystic
Site brain - usu. supratentorial

Syndromes associated with epilepsy

Prevalence rare - esp. in children
Prognosis good (WHO Grade I)

Ganglioglioma is a epilepsy-associated glioneuronal tumour with benign course. Not to be confused with ganglioneuroma.

General

  • Gangliolioma: Grade I WHO mixed neuronal-glial tumour (ICD-O code: 9505/1).
  • Anaplastic ganglioglioma: Grade III (ICD-O: 9505/3)
  • Rare (approx. 0.5% of all CNS tumors).
  • Usu. temporal lobe.
  • Predominantly children (mean age: 9 years).
  • Recognized as a cause of epilepsy.[1]
  • Favourable prognosis (survival rates up to 97%)
    • Anaplastic ganglioglioma have a recurrence risk of 69%-100% and median OS: 27months[2][3]

Imaging

  • Well-defined, T2-hyperintense.
  • Strong CM enhancement.
  • May contain cysts.
  • Associated with temporal lobe.

Gross

  • Circumscribed lesion.
  • Usu. contrast enhancing.
  • Solid, but intracortical cysts may be present.
  • Little mass effect.

Microscopic

Microscopic

Features:

  • Dysplastic neurons.
    • Out of regular architecture / abnormal location.
    • Cytomegaly
    • Clustering
    • Binucleated (very occassionally).
  • Atypical glia (ie neoplastic).
  • Eosinophilic granular bodies (more common than rosenthal fibers).
  • Dystrophic calcification.
  • Prominent capillary network.
  • Lymphocytic cuffing.
  • May contain some reticulin.
  • Glial component may resemble:
    • Fibrillary astrocytoma.
    • Oligodendroglioma.
    • Pilocytic astrocytoma.

Anaplastic ganglioglioma:

  • Brisk mitotic activity
  • Necrosis

IHC

  • Neurons:
    • MAP2 +ve
    • Synaptophysin +ve
    • Neurofilament +ve
    • Chromogranin +ve
  • Glia:
    • CD34+/-ve
  • BRAF V600E +ve (approx. 25%, mainly ganglion cells).
  • MAP2: usu. absent.
  • MIB-1 (low, but resembles proliferative tumor component).

Molecular

  • BRAF V600E-mutated(approx. 25%).[4]
    • BRAF V600E antibody stains especially neuronal cells.[5]
  • IDH1/2 wt.
  • No 1p/19q codeletion.
  • Usu. Chr. 7 gain.
  • Rare cases with KIAA1459-BRAF fusion.[6]
  • CDKN2A deletions, ATRX loss and TERT promotor mutations in anaplastic ganglioglioma.[7]
    • DD: consider anaplastic astrocytoma with piloid features (similiar molecular profile).[8]
  • Rare cases with co-occurrence of K27M mutation.[9]

Images

Prognosis

  • Very good (10-year OS: 97%)
  • Primary treatment: surgery.
    • Seizure free outcome: 81%.
    • Incomplete resection as major factor for persisting epilepsia.[10]

DDx:

  • DNT.
  • Oligodendroglioma.
  • PXA.
  • Desmoplastic infantile astrocytoma and ganglioglioma.
  • Cortical tuber.
  • Trapped cortical neurons in diffuse astrocytoma.
  • Papillary glioneuronal tumor.

See also

References

  1. Im, SH.; Chung, CK.; Cho, BK.; Lee, SK. (Mar 2002). "Supratentorial ganglioglioma and epilepsy: postoperative seizure outcome.". J Neurooncol 57 (1): 59-66. PMID 12125968.
  2. Terrier, LM.; Bauchet, L.; Rigau, V.; Amelot, A.; Zouaoui, S.; Filipiak, I.; Caille, A.; Almairac, F. et al. (05 2017). "Natural course and prognosis of anaplastic gangliogliomas: a multicenter retrospective study of 43 cases from the French Brain Tumor Database.". Neuro Oncol 19 (5): 678-688. doi:10.1093/neuonc/now186. PMID 28453747.
  3. Zanello, M.; Pages, M.; Tauziède-Espariat, A.; Saffroy, R.; Puget, S.; Lacroix, L.; Dezamis, E.; Devaux, B. et al. (Oct 2016). "Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma.". J Neuropathol Exp Neurol 75 (10): 971-980. doi:10.1093/jnen/nlw074. PMID 27539475.
  4. Schindler, G.; Capper, D.; Meyer, J.; Janzarik, W.; Omran, H.; Herold-Mende, C.; Schmieder, K.; Wesseling, P. et al. (Mar 2011). "Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma.". Acta Neuropathol 121 (3): 397-405. doi:10.1007/s00401-011-0802-6. PMID 21274720.
  5. Koelsche, C.; Wöhrer, A.; Jeibmann, A.; Schittenhelm, J.; Schindler, G.; Preusser, M.; Lasitschka, F.; von Deimling, A. et al. (Jun 2013). "Mutant BRAF V600E protein in ganglioglioma is predominantly expressed by neuronal tumor cells.". Acta Neuropathol 125 (6): 891-900. doi:10.1007/s00401-013-1100-2. PMID 23435618.
  6. Mesturoux, L.; Durand, K.; Pommepuy, I.; Robert, S.; Caire, F.; Labrousse, F. (Aug 2016). "Molecular Analysis of Tumor Cell Components in Pilocytic Astrocytomas, Gangliogliomas, and Oligodendrogliomas.". Appl Immunohistochem Mol Morphol 24 (7): 496-500. doi:10.1097/PAI.0000000000000288. PMID 27389560.
  7. Zanello, M.; Pages, M.; Tauziède-Espariat, A.; Saffroy, R.; Puget, S.; Lacroix, L.; Dezamis, E.; Devaux, B. et al. (Oct 2016). "Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma.". J Neuropathol Exp Neurol 75 (10): 971-980. doi:10.1093/jnen/nlw074. PMID 27539475.
  8. Reinhardt, A.; Stichel, D.; Schrimpf, D.; Sahm, F.; Korshunov, A.; Reuss, DE.; Koelsche, C.; Huang, K. et al. (Aug 2018). "Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations.". Acta Neuropathol 136 (2): 273-291. doi:10.1007/s00401-018-1837-8. PMID 29564591.
  9. Pagès, M.; Beccaria, K.; Boddaert, N.; Saffroy, R.; Besnard, A.; Castel, D.; Fina, F.; Barets, D. et al. (Dec 2016). "Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma.". Brain Pathol. doi:10.1111/bpa.12473. PMID 27984673.
  10. Devaux, B.; Chassoux, F.; Landré, E.; Turak, B.; Laurent, A.; Zanello, M.; Mellerio, C.; Varlet, P. (Jun 2017). "Surgery for dysembryoplastic neuroepithelial tumors and gangliogliomas in eloquent areas. Functional results and seizure control.". Neurochirurgie 63 (3): 227-234. doi:10.1016/j.neuchi.2016.10.009. PMID 28506485.