Difference between revisions of "Ganglioglioma"

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(→‎Molecular: DDx G34 mutant glioblastoma)
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*No 1p/19q codeletion.
*No 1p/19q codeletion.
*Usu. Chr. 7 gain.  
*Usu. Chr. 7 gain.  
*Rare cases with KIAA1459-BRAF fusion.<ref>{{Cite journal  | last1 = Mesturoux | first1 = L. | last2 = Durand | first2 = K. | last3 = Pommepuy | first3 = I. | last4 = Robert | first4 = S. | last5 = Caire | first5 = F. | last6 = Labrousse | first6 = F. | title = Molecular Analysis of Tumor Cell Components in Pilocytic Astrocytomas, Gangliogliomas, and Oligodendrogliomas. | journal = Appl Immunohistochem Mol Morphol | volume = 24 | issue = 7 | pages = 496-500 | month = Aug | year = 2016 | doi = 10.1097/PAI.0000000000000288 | PMID = 27389560 }}</ref>
*Rare cases with KIAA1459-BRAF fusion.<ref>{{Cite journal  | last1 = Pekmezci | first1 = M. | last2 = Villanueva-Meyer | first2 = JE. | last3 = Goode | first3 = B. | last4 = Van Ziffle | first4 = J. | last5 = Onodera | first5 = C. | last6 = Grenert | first6 = JP. | last7 = Bastian | first7 = BC. | last8 = Chamyan | first8 = G. | last9 = Maher | first9 = OM. | title = The genetic landscape of ganglioglioma. | journal = Acta Neuropathol Commun | volume = 6 | issue = 1 | pages = 47 | month = 06 | year = 2018 | doi = 10.1186/s40478-018-0551-z | PMID = 29880043 }}</ref>
** DDx: consider pilocytic astrocytoma with ganglioglioma component. <ref>{{Cite journal  | last1 = Mesturoux | first1 = L. | last2 = Durand | first2 = K. | last3 = Pommepuy | first3 = I. | last4 = Robert | first4 = S. | last5 = Caire | first5 = F. | last6 = Labrousse | first6 = F. | title = Molecular Analysis of Tumor Cell Components in Pilocytic Astrocytomas, Gangliogliomas, and Oligodendrogliomas. | journal = Appl Immunohistochem Mol Morphol | volume = 24 | issue = 7 | pages = 496-500 | month = Aug | year = 2016 | doi = 10.1097/PAI.0000000000000288 | PMID = 27389560 }}</ref>
*CDKN2A deletions, ATRX loss and TERT promotor mutations in anaplastic ganglioglioma.<ref>{{Cite journal  | last1 = Zanello | first1 = M. | last2 = Pages | first2 = M. | last3 = Tauziède-Espariat | first3 = A. | last4 = Saffroy | first4 = R. | last5 = Puget | first5 = S. | last6 = Lacroix | first6 = L. | last7 = Dezamis | first7 = E. | last8 = Devaux | first8 = B. | last9 = Chrétien | first9 = F. | title = Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma. | journal = J Neuropathol Exp Neurol | volume = 75 | issue = 10 | pages = 971-980 | month = Oct | year = 2016 | doi = 10.1093/jnen/nlw074 | PMID = 27539475 }}</ref>
*CDKN2A deletions, ATRX loss and TERT promotor mutations in anaplastic ganglioglioma.<ref>{{Cite journal  | last1 = Zanello | first1 = M. | last2 = Pages | first2 = M. | last3 = Tauziède-Espariat | first3 = A. | last4 = Saffroy | first4 = R. | last5 = Puget | first5 = S. | last6 = Lacroix | first6 = L. | last7 = Dezamis | first7 = E. | last8 = Devaux | first8 = B. | last9 = Chrétien | first9 = F. | title = Clinical, Imaging, Histopathological and Molecular Characterization of Anaplastic Ganglioglioma. | journal = J Neuropathol Exp Neurol | volume = 75 | issue = 10 | pages = 971-980 | month = Oct | year = 2016 | doi = 10.1093/jnen/nlw074 | PMID = 27539475 }}</ref>
**DD: consider anaplastic astrocytoma with piloid features (similiar molecular profile).<ref>{{Cite journal  | last1 = Reinhardt | first1 = A. | last2 = Stichel | first2 = D. | last3 = Schrimpf | first3 = D. | last4 = Sahm | first4 = F. | last5 = Korshunov | first5 = A. | last6 = Reuss | first6 = DE. | last7 = Koelsche | first7 = C. | last8 = Huang | first8 = K. | last9 = Wefers | first9 = AK. | title = Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations. | journal = Acta Neuropathol | volume = 136 | issue = 2 | pages = 273-291 | month = Aug | year = 2018 | doi = 10.1007/s00401-018-1837-8 | PMID = 29564591 }}
**DD: consider anaplastic astrocytoma with piloid features (similiar molecular profile).<ref>{{Cite journal  | last1 = Reinhardt | first1 = A. | last2 = Stichel | first2 = D. | last3 = Schrimpf | first3 = D. | last4 = Sahm | first4 = F. | last5 = Korshunov | first5 = A. | last6 = Reuss | first6 = DE. | last7 = Koelsche | first7 = C. | last8 = Huang | first8 = K. | last9 = Wefers | first9 = AK. | title = Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations. | journal = Acta Neuropathol | volume = 136 | issue = 2 | pages = 273-291 | month = Aug | year = 2018 | doi = 10.1007/s00401-018-1837-8 | PMID = 29564591 }}
</ref>
</ref>
*H3F3A wildtype.
**DDx: consider G34-mutant glioblastoma/NET (rare cases may contain dysplastic ganglion cells).<ref>{{Cite journal  | last1 = Andreiuolo | first1 = F. | last2 = Lisner | first2 = T. | last3 = Zlocha | first3 = J. | last4 = Kramm | first4 = C. | last5 = Koch | first5 = A. | last6 = Bison | first6 = B. | last7 = Gareton | first7 = A. | last8 = Zanello | first8 = M. | last9 = Waha | first9 = A. | title = H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components. | journal = Acta Neuropathol Commun | volume = 7 | issue = 1 | pages = 78 | month = May | year = 2019 | doi = 10.1186/s40478-019-0731-5 | PMID = 31109382 }}</ref>
*Rare cases with co-occurrence of K27M mutation.<ref>{{Cite journal  | last1 = Pagès | first1 = M. | last2 = Beccaria | first2 = K. | last3 = Boddaert | first3 = N. | last4 = Saffroy | first4 = R. | last5 = Besnard | first5 = A. | last6 = Castel | first6 = D. | last7 = Fina | first7 = F. | last8 = Barets | first8 = D. | last9 = Barret | first9 = E. | title = Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma. | journal = Brain Pathol | volume =  | issue =  | pages =  | month = Dec | year = 2016 | doi = 10.1111/bpa.12473 | PMID = 27984673 }}</ref>
*Rare cases with co-occurrence of K27M mutation.<ref>{{Cite journal  | last1 = Pagès | first1 = M. | last2 = Beccaria | first2 = K. | last3 = Boddaert | first3 = N. | last4 = Saffroy | first4 = R. | last5 = Besnard | first5 = A. | last6 = Castel | first6 = D. | last7 = Fina | first7 = F. | last8 = Barets | first8 = D. | last9 = Barret | first9 = E. | title = Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma. | journal = Brain Pathol | volume =  | issue =  | pages =  | month = Dec | year = 2016 | doi = 10.1111/bpa.12473 | PMID = 27984673 }}</ref>



Revision as of 07:24, 22 May 2019

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]
    • DDx: consider pilocytic astrocytoma with ganglioglioma component. [7]
  • CDKN2A deletions, ATRX loss and TERT promotor mutations in anaplastic ganglioglioma.[8]
    • DD: consider anaplastic astrocytoma with piloid features (similiar molecular profile).[9]
  • H3F3A wildtype.
    • DDx: consider G34-mutant glioblastoma/NET (rare cases may contain dysplastic ganglion cells).[10]
  • Rare cases with co-occurrence of K27M mutation.[11]

Images

Prognosis

  • Very good (10-year OS: 97%)
  • Primary treatment: surgery.
    • Seizure free outcome: 81%.
    • Incomplete resection as major factor for persisting epilepsia.[12]

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. Pekmezci, M.; Villanueva-Meyer, JE.; Goode, B.; Van Ziffle, J.; Onodera, C.; Grenert, JP.; Bastian, BC.; Chamyan, G. et al. (06 2018). "The genetic landscape of ganglioglioma.". Acta Neuropathol Commun 6 (1): 47. doi:10.1186/s40478-018-0551-z. PMID 29880043.
  7. 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.
  8. 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.
  9. 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.
  10. Andreiuolo, F.; Lisner, T.; Zlocha, J.; Kramm, C.; Koch, A.; Bison, B.; Gareton, A.; Zanello, M. et al. (May 2019). "H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components.". Acta Neuropathol Commun 7 (1): 78. doi:10.1186/s40478-019-0731-5. PMID 31109382.
  11. 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.
  12. 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.