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→Molecular: DDx G34 mutant glioblastoma
Jensflorian (talk | contribs) (→Molecular: DDx) |
Jensflorian (talk | contribs) (→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> | ||