CNS5:Pleomorphic xanthoastrocytoma: Difference between revisions

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 |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>
 |-
 |''CDKN2A''/''B''
 |N/A
 |Loss leads to cell cycle dysregulation
@@ Line 64: / Line 64: @@
 |D, P
 |Yes (WHO, NCCN—context specific)
-|Seen mainly in grade 3/anaplastic; adverse outcome<ref name=":0" />
+|Co-occurrence with BRAF p.V600E supports PXA diagnosis
 |-
 |TERT
-|<span class="blue-text">EXAMPLE:</span>
+|N/A
+|Telomerase activation (mainly in anaplastic PXA)
-|<span class="blue-text">EXAMPLE:</span>
+|TERT promoter mutations/amplifications
-|<span class="blue-text">EXAMPLE:</span> N/A
+|'''Recurrent (15–47% in anaplastic) PMID: 30051528'''
-|<span class="blue-text">EXAMPLE:</span>
+|P (poor; recurrence risk)
-|<span class="blue-text">EXAMPLE:</span> T
+|Yes (WHO, NCCN-context specefic)
-|
+|Seen mainly in grade 3/anaplastic; adverse outcome<ref name=":0" />
-|<span class="blue-text">EXAMPLE:</span>
 <br />
 |-
 |NTRK2, ALK, RAF1
-|<span class="blue-text">EXAMPLE:</span> N/A
+|Fusions: NACC2-NTRK2, BEND5-NTRK2, PPP1CB-ALK, etc.
-|
+|MAPK pathway activation via kinase fusions
-|
+|Variable; not associated with classic chr alterations
-|<span class="blue-text">EXAMPLE:</span>
+|'''Rare (<5%) PMID: 37870438'''
-|<span class="blue-text">EXAMPLE:</span> D, P, T
+|D
-|
+|Context-dependent ( e.g. For patients with CNS tumors who harbor NTRK fusions, TRK inhibitors such as larotrectinib or repotrectinib are considered a preferred therapy, regardless of histology, if other options are limited) NCCN CNS Cancer guidelines
-|
+|Reported in individual cases; more common in glioneuronal/low-grade gliomas
 |-
 |
@@ Line 106: / Line 105: @@
 !Clinical Relevance Details/Other Notes
 |-
-|<span class="blue-text">EXAMPLE:</span>
+|9p21
+|Homozygous loss, LOH
-|<span class="blue-text">EXAMPLE:</span> Loss
+|9p21.3; chr9:21,900,000-22,300,000 (GRCh38; ~400Kb)
-|<span class="blue-text">EXAMPLE:</span>
+|CDKN2A, CDKN2B
-chr7
+|D, P
-|<span class="blue-text">EXAMPLE:</span>
+|Yes (WHO CNS5, NCCN)
-Unknown
+|'''Defining PXA feature; occurs in >85% of cases (PMID: 28181325)'''
-|<span class="blue-text">EXAMPLE:</span> D, P
-|<span class="blue-text">EXAMPLE:</span> No
-|<span class="blue-text">EXAMPLE:</span>
-Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
 |-
-|<span class="blue-text">EXAMPLE:</span>
+|7
+|Gain
-|<span class="blue-text">EXAMPLE:</span> Gain
+|Chr7 whole arm or segmental (varies)
-|<span class="blue-text">EXAMPLE:</span>
+|EGFR not typically amplified)
-chr8
+|D
-|<span class="blue-text">EXAMPLE:</span>
+|No (however, frequently mentioned in literature as a recurrent copy number change in PXA (PMID:
-Unknown
+|Trisomy, supports diagnosis; also seen in other gliomas
-|<span class="blue-text">EXAMPLE:</span> D, P
-|
-|<span class="blue-text">EXAMPLE:</span>
-Common recurrent secondary finding for t(8;21) (add references).
 |-
 |<span class="blue-text">EXAMPLE:</span>
@@ Line 272: / Line 263: @@
 [[Category:DISEASE]]
 [[Category:Diseases P]]
+<references />