CNS5:Pleomorphic xanthoastrocytoma: Difference between revisions

[unchecked revision]

← Older edit Newer edit →

VisualWikitext

@@ Line 51: / Line 51: @@
 !Clinical Relevance Details/Other Notes
 |-
-|''BRAF''||''BRAF''-''KIAA1549'' (rare), ''RAF1'' fusions, ''NTRK2''/''ALK''/''NTRK1'' (very rare in PXA)||Aberrant MAPK pathway activation (i.e BRAF p.V600E variant)||''CDKN2A''/''B'' homozygous deletion (9p21); chr7 gain; chr10/22 loss
+|''BRAF''||''BRAF''-''KIAA1549'' (rare), ''RAF1'' fusions, ''NTRK2''/''ALK''/''NTRK1'' (very rare in PXA)||Aberrant MAPK pathway activation (i.e BRAF p.V600E variant)||N/A
-|BRAF p.V600E: Common, Fusions: Rare
+|BRAF p.V600E: Common in PXA, Fusions: Rare
 |D, P, T
-|Yes (WHO 2021/2025, NCCN 2023)
+|Yes (WHO 2021/2025, NCCN 2023)<ref>{{Cite journal|last=d’Amati|first=Antonio|last2=Bargiacchi|first2=Lavinia|last3=Rossi|first3=Sabrina|last4=Carai|first4=Andrea|last5=Bertero|first5=Luca|last6=Barresi|first6=Valeria|last7=Errico|first7=Maria Elena|last8=Buccoliero|first8=Anna Maria|last9=Asioli|first9=Sofia|date=2024-03-13|title=Pediatric CNS tumors and 2021 WHO classification: what do oncologists need from pathologists?|url=https://www.frontiersin.org/journals/molecular-neuroscience/articles/10.3389/fnmol.2024.1268038/full|journal=Frontiers in Molecular Neuroscience|language=English|volume=17|doi=10.3389/fnmol.2024.1268038|issn=1662-5099}}</ref>
-|BRAF p.V600E is diagnostic and predictive; kinase fusions targetable in rare cases
+|BRAF p.V600E is diagnostic and predictive; kinase fusions targetable in rare cases<ref name=":0">{{Cite journal|last=Phillips|first=Joanna J.|last2=Gong|first2=Henry|last3=Chen|first3=Katharine|last4=Joseph|first4=Nancy M.|last5=van Ziffle|first5=Jessica|last6=Bastian|first6=Boris C.|last7=Grenert|first7=James P.|last8=Kline|first8=Cassie N.|last9=Mueller|first9=Sabine|date=2019-01|title=The genetic landscape of anaplastic pleomorphic xanthoastrocytoma|url=https://pubmed.ncbi.nlm.nih.gov/30051528|journal=Brain Pathology (Zurich, Switzerland)|volume=29|issue=1|pages=85–96|doi=10.1111/bpa.12639|issn=1750-3639|pmc=7837273|pmid=30051528}}</ref><ref>{{Cite journal|last=Vaubel|first=Rachael A.|last2=Caron|first2=Alissa A.|last3=Yamada|first3=Seiji|last4=Decker|first4=Paul A.|last5=Eckel Passow|first5=Jeanette E.|last6=Rodriguez|first6=Fausto J.|last7=Nageswara Rao|first7=Amulya A.|last8=Lachance|first8=Daniel|last9=Parney|first9=Ian|date=2018-03|title=Recurrent copy number alterations in low-grade and anaplastic pleomorphic xanthoastrocytoma with and without BRAF V600E mutation|url=https://pmc.ncbi.nlm.nih.gov/articles/PMC5807227/|journal=Brain Pathology (Zurich, Switzerland)|volume=28|issue=2|pages=172–182|doi=10.1111/bpa.12495|issn=1750-3639|pmc=5807227|pmid=28181325}}</ref> <ref>{{Cite journal|last=Tian|first=Lei|last2=Sun|first2=Wei|last3=Lou|first3=Lei|last4=Wang|first4=Wenyan|last5=Li|first5=Yanan|last6=Zhou|first6=Huandi|last7=Xiao|first7=Zhiqing|last8=Xue|first8=Xiaoying|date=2025|title=Pleomorphic xanthoastrocytoma with multiple recurrences and continuous malignant progression to bone metastasis: a case report|url=https://pmc.ncbi.nlm.nih.gov/articles/PMC12174448/|journal=Frontiers in Surgery|volume=12|pages=1595199|doi=10.3389/fsurg.2025.1595199|issn=2296-875X|pmc=12174448|pmid=40535548}}</ref><ref>{{Cite journal|last=Di Nunno|first=Vincenzo|last2=Gatto|first2=Lidia|last3=Tosoni|first3=Alicia|last4=Bartolini|first4=Stefania|last5=Franceschi|first5=Enrico|date=2022|title=Implications of BRAF V600E mutation in gliomas: Molecular considerations, prognostic value and treatment evolution|url=https://pmc.ncbi.nlm.nih.gov/articles/PMC9846085/|journal=Frontiers in Oncology|volume=12|pages=1067252|doi=10.3389/fonc.2022.1067252|issn=2234-943X|pmc=9846085|pmid=36686797}}</ref>
 |-
-|<span class="blue-text">EXAMPLE:</span> ''CIC''
+|''CDKN2A''/''B''
-|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
+|N/A
-|<span class="blue-text">EXAMPLE:</span> Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
+|Loss leads to cell cycle dysregulation
-|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
+|''CDKN2A''/''B'' homozygous deletion (9p21); chr7 gain; chr10/22 loss
-|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
+|Common
-|<span class="blue-text">EXAMPLE:</span> D
+|D, P
-|
+|Yes (WHO, NCCN—context specific)
-|<span class="blue-text">EXAMPLE:</span>
+|Seen mainly in grade 3/anaplastic; adverse outcome<ref name=":0" />
-''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
 |-
-|<span class="blue-text">EXAMPLE:</span> ''ALK''
+|TERT
-|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
+|<span class="blue-text">EXAMPLE:</span>
-Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
+|<span class="blue-text">EXAMPLE:</span>
-|<span class="blue-text">EXAMPLE:</span> Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18.
 |<span class="blue-text">EXAMPLE:</span> N/A
-|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
+|<span class="blue-text">EXAMPLE:</span>
 |<span class="blue-text">EXAMPLE:</span> T
 |
 |<span class="blue-text">EXAMPLE:</span>
-Both balanced and unbalanced forms are observed by FISH (add references).
+<br />
 |-
-|<span class="blue-text">EXAMPLE:</span> ''ABL1''
+|NTRK2, ALK, RAF1
 |<span class="blue-text">EXAMPLE:</span> N/A
-|<span class="blue-text">EXAMPLE:</span> Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways.
+|
-|<span class="blue-text">EXAMPLE:</span> N/A
+|
-|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
+|<span class="blue-text">EXAMPLE:</span>
 |<span class="blue-text">EXAMPLE:</span> D, P, T
 |