CNS5:Diffuse leptomeningeal glioneuronal tumour: Difference between revisions
| [checked revision] | [checked revision] |
gene rearrangements |
gene rearrangements |
||
| Line 74: | Line 74: | ||
|D, T | |D, T | ||
|Yes (WHO) | |Yes (WHO) | ||
|Case report evidence of efficacy of BRAF inhibitors in DLGNT case harboring ''KIAA1549::BRAF'' fusion ( | |Case report evidence of efficacy of BRAF inhibitors in DLGNT case harboring ''KIAA1549::BRAF'' fusion<ref>{{Cite journal|last=Valiakhmetova|first=Andge|last2=Papusha|first2=Ludmila|last3=Yasko|first3=Ludmila|last4=Druy|first4=Alexander|last5=Karachunsky|first5=Alexander|last6=Novichkova|first6=Galina|last7=Hwang|first7=Eugene I|last8=Packer|first8=Roger J|date=2020-12-04|title=LGG-26. DIFFUSE LEPTOMENINGEAL GLIONEURONAL TUMOR (DLGNT) IN CHILDREN: DIFFERENT CLINICAL PRESENTATIONS AND OUTCOMES|url=https://academic.oup.com/neuro-oncology/article/22/Supplement_3/iii371/6018960|journal=Neuro-Oncology|language=en|volume=22|issue=Supplement_3|pages=iii371–iii371|doi=10.1093/neuonc/noaa222.408|issn=1522-8517|pmc=7715974}}</ref> | ||
|- | |- | ||
|''NTRK1/2/3'' | |''NTRK1/2/3'' | ||
| Line 80: | Line 80: | ||
|Downstream activation of MAPK/ERK signalling pathway in CNS tumors | |Downstream activation of MAPK/ERK signalling pathway in CNS tumors | ||
|Not specified | |Not specified | ||
|Rare | |Rare | ||
|D,T | |D,T | ||
|Yes (WHO) | |Yes (WHO) | ||
|3 cases with ''NTRK1/2/3'' fusions ( | |3 cases with ''NTRK1/2/3'' fusions<ref>{{Cite journal|last=Deng|first=Maximilian Y.|last2=Sill|first2=Martin|last3=Chiang|first3=Jason|last4=Schittenhelm|first4=Jens|last5=Ebinger|first5=Martin|last6=Schuhmann|first6=Martin U.|last7=Monoranu|first7=Camelia-Maria|last8=Milde|first8=Till|last9=Wittmann|first9=Andrea|date=2018-08|title=Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features|url=https://pubmed.ncbi.nlm.nih.gov/29766299|journal=Acta Neuropathologica|volume=136|issue=2|pages=239–253|doi=10.1007/s00401-018-1865-4|issn=1432-0533|pmid=29766299}}</ref> | ||
|- | |- | ||
|''RAF1''<span lang="EN-US">BRAF</span> | |''RAF1''<span lang="EN-US">BRAF</span> | ||
|''TRIM33:RAF1'' | |''TRIM33:RAF1'' | ||
<br /> | <br /> | ||
|Downstream activation of MAPK/ERK signalling pathway in CNS tumors | |Downstream activation of MAPK/ERK signalling pathway in CNS tumors | ||
|t(1;3)(p13;p25) | |t(1;3)(p13;p25) | ||
|Rare | |Rare | ||
|D | |D | ||
|Yes (WHO) | |Yes (WHO) | ||
|1 case with ''TRIM33::RAF1'' fusion ( | |1 case with ''TRIM33::RAF1'' fusion<ref>{{Cite journal|last=Deng|first=Maximilian Y.|last2=Sill|first2=Martin|last3=Chiang|first3=Jason|last4=Schittenhelm|first4=Jens|last5=Ebinger|first5=Martin|last6=Schuhmann|first6=Martin U.|last7=Monoranu|first7=Camelia-Maria|last8=Milde|first8=Till|last9=Wittmann|first9=Andrea|date=2018-08|title=Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features|url=https://pubmed.ncbi.nlm.nih.gov/29766299|journal=Acta Neuropathologica|volume=136|issue=2|pages=239–253|doi=10.1007/s00401-018-1865-4|issn=1432-0533|pmid=29766299}}</ref> | ||
|- | |- | ||
| colspan="8" | | | colspan="8" | | ||