CNS5:Pleomorphic xanthoastrocytoma - Revision history

Richard.Glen at 00:51, 26 February 2026

2026-02-26T00:51:03Z

← Older revision		Revision as of 19:51, 25 February 2026
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	==Links==		==Links==
	[https://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma Pleomorphic Xanthoastrocytoma (PXA) and Other BRAF-Altered Tumors: Diagnosis and Treatment - NCI]		[https://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma Pleomorphic Xanthoastrocytoma (PXA) and Other BRAF-Altered Tumors: Diagnosis and Treatment - NCI]
	==References==<references />		==References==
			<references />

	==Notes==		==Notes==

Richard.Glen at 00:46, 26 February 2026

2026-02-26T00:46:36Z

Show changes

Wkhan: /* Gene Mutations (SNV/INDEL) */

2025-11-06T22:33:05Z

Gene Mutations (SNV/INDEL)

← Older revision		Revision as of 17:33, 6 November 2025
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	\|Yes (WHO CNS5 for differential diagnosis)		\|Yes (WHO CNS5 for differential diagnosis)
	\|Absence confirms classic PXA; if present, suggests diffuse astrocytoma not PXA (PMID: 26414224)		\|Absence confirms classic PXA; if present, suggests diffuse astrocytoma not PXA (PMID: 26414224)
			\|-
			\|NTRK2, ALK
			\|Kinase gene fusions
			\|Oncogene
			\|Rare
			\|T
			\|Yes (FDA/NCCN for fusion-positive CNS tumors, not PXA-specific)
			\|'''Targetable by TRK/ALK inhibitors (larotrectinib, entrectinib); found chiefly in pediatric BRAF-wildtype PXAs.(PMID: 40568680)'''
	\|-		\|-
	\|		\|

Wkhan: /* Gene Mutations (SNV/INDEL) */

2025-11-06T22:23:56Z

Gene Mutations (SNV/INDEL)

← Older revision		Revision as of 17:23, 6 November 2025
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	\|P		\|P
	\|Yes (WHO CNS5)		\|Yes (WHO CNS5)
	\|Associated with anaplastic progression, poor recurrence-free survival, and adverse prognosis in high-grade PXA.		\|Associated with anaplastic progression, poor recurrence-free survival, and adverse prognosis in high-grade PXA (PMID: 35545827)
	\|-		\|-
	\|IDH1/IDH2		\|IDH1/IDH2
	\|Missense (R132H, etc)		\|Missense (R132H, etc)
	\|~~<span class="blue-text">EXAMPLE:</span> Oncogene~~		\|Other
	\|~~<span class="blue-text">EXAMPLE:</span> Common (melanoma)~~		\|Absent in classic PXA
	\|~~<span class="blue-text">EXAMPLE:</span> T~~		\|D
	\|		\|Yes (WHO CNS5 for differential diagnosis)
	\|		\|Absence confirms classic PXA; if present, suggests diffuse astrocytoma not PXA (PMID: 26414224)
	\|-		\|-
	\|		\|

Wkhan: /* Gene Mutations (SNV/INDEL) */

2025-11-06T22:15:18Z

Gene Mutations (SNV/INDEL)

← Older revision		Revision as of 17:15, 6 November 2025
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	\|Promoter mutation		\|Promoter mutation
	\|Other		\|Other
	\|~~<span class="blue-text">EXAMPLE:</span> Common (breast cancer)~~		\|Recurrent
	\|~~<span class="blue-text">EXAMPLE:</span>~~ P		\|P
	\|		\|Yes (WHO CNS5)
	\|~~<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated~~ with Li-~~Fraumeni syndrome (add reference). Denotes a poor~~ prognosis in ~~breast cancer~~.		\|Associated with anaplastic progression, poor recurrence-free survival, and adverse prognosis in high-grade PXA.
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span> ''BRAF''; Activating mutations~~		\|IDH1/IDH2
	\|~~<span class="blue-text">EXAMPLE:</span> Activating mutations~~		\|Missense (R132H, etc)
	\|<span class="blue-text">EXAMPLE:</span> Oncogene		\|<span class="blue-text">EXAMPLE:</span> Oncogene
	\|<span class="blue-text">EXAMPLE:</span> Common (melanoma)		\|<span class="blue-text">EXAMPLE:</span> Common (melanoma)

Wkhan: /* Gene Mutations (SNV/INDEL) */

2025-11-06T22:02:06Z

Gene Mutations (SNV/INDEL)

← Older revision		Revision as of 17:02, 6 November 2025
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	\|Specific for PXA, actionable with BRAF/MEK inhibitors; rarely found in diffuse astrocytomas. Favorable prognostic marker (PMID: 35545827).		\|Specific for PXA, actionable with BRAF/MEK inhibitors; rarely found in diffuse astrocytomas. Favorable prognostic marker (PMID: 35545827).
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations~~		\|TERT
	<br />		<br />
	\|~~<span class="blue-text">EXAMPLE:</span> Variable LOF mutations~~		\|Promoter mutation
	\|~~<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene~~		\|Other
	\|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)		\|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
	\|<span class="blue-text">EXAMPLE:</span> P		\|<span class="blue-text">EXAMPLE:</span> P

Wkhan: /* Gene Mutations (SNV/INDEL) */

2025-11-06T21:44:28Z

Gene Mutations (SNV/INDEL)

← Older revision		Revision as of 16:44, 6 November 2025
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	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>''EGFR''~~		\|BRAF

	<br />		<br />
	\|~~<span class="blue-text">EXAMPLE:</span> Exon 18-21~~ activating ~~mutations~~		\|p.V600E missense activating mutation
	\|~~<span class="blue-text">EXAMPLE:</span>~~ Oncogene		\|Oncogene
	\|~~<span class="blue-text">EXAMPLE:</span>~~ Common (~~lung cancer~~)		\|Common (~60–80%)
	\|~~<span class="blue-text">EXAMPLE:</span>~~ T		\|D, P, T
	\|~~<span class="blue-text">EXAMPLE:</span>~~ Yes (NCCN)		\|Yes (WHO CNS5, NCCN)
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span> Exons 18, 19, and 21 mutations are targetable for therapy~~. ~~Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs~~ (~~add references~~).		\|Specific for PXA, actionable with BRAF/MEK inhibitors; rarely found in diffuse astrocytomas. Favorable prognostic marker (PMID: 35545827).
	\|-		\|-
	\|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations		\|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations

Wkhan: /* Individual Region Genomic Gain/Loss/LOH */

2025-10-02T21:14:38Z

Individual Region Genomic Gain/Loss/LOH

← Older revision		Revision as of 16:14, 2 October 2025
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	\|NF2, others		\|NF2, others
	\|D		\|D
	\|No (not guideline-specific, recurrent in PXA)		\|No (not guideline-specific, recurrent in PXA)
	\|Frequently reported, may occur with other losses		\|Frequently reported, may occur with other losses
	\|-		\|-
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	\|Loss		\|Loss
	\|chr 8p (varied region)		\|chr 8p (varied region)
	\|Varies		\|Varies
	\|P		\|P
	\|No		\|No
	\|Seen in a subset, less common ((PMID: 28181325)		\|Seen in a subset, less common ((PMID: 28181325)
			\|-
			\|LOH
			\|Copy-neutral
			\|Varies (mainly 9p21)
			\|CDKN2A, CDKN2B
			\|D, P
			\|Yes (NCCN)
			\|copy-neutral LOH; supports diagnosis
	\|}		\|}
	==Characteristic Chromosomal or Other Global Mutational Patterns==		==Characteristic Chromosomal or Other Global Mutational Patterns==

Wkhan: /* Individual Region Genomic Gain/Loss/LOH */

2025-10-02T21:13:20Z

Individual Region Genomic Gain/Loss/LOH

← Older revision		Revision as of 16:13, 2 October 2025
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	\|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		\|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		\|Reported in individual cases; more common in glioneuronal/low-grade gliomas
	\|-
	\|
	\|
	\|
	\|
	\|
	\|
	\|
	\|
	\|}		\|}
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==
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	\|D		\|D
	\|No (however, frequently mentioned in literature as a recurrent copy number change in PXA (PMID:		\|No (however, frequently mentioned in literature as a recurrent copy number change in PXA (PMID:
	\|~~Frequent but non-specific;~~ supports ~~PXA~~ diagnosis		\|Trisomy, supports diagnosis; also seen in other gliomas
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>~~		\|22
	17		\|Loss
	\|~~<span class="blue-text">EXAMPLE:</span> Amp~~		\|Whole chr22 (varied cytoband, arm)
	\|~~<span class="blue-text">EXAMPLE:</span>~~		\|NF2, others
	~~17q12; chr17:39,700,064-39~~,~~728,658 [hg38; 28.6 kb]~~		\|D
	\|~~<span class="blue-text">EXAMPLE:</span>~~		\|No (not guideline-specific, recurrent in PXA)
	~~''ERBB2''~~		\|Frequently reported, may occur with other losses
	\|~~<span class="blue~~-~~text">EXAMPLE:</span> D~~, ~~P, T~~
	\|
	~~\|<span class="blue-text">EXAMPLE:</span>~~
	~~Amplification of ''ERBB2'' is associated~~ with ~~HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.~~
	\|-		\|-
	\|		\|8p
	\|		\|Loss
	\|		\|chr 8p (varied region)
	\|		\|Varies
	\|		\|P
	\|		\|No
	\|		\|Seen in a subset, less common ((PMID: 28181325)
	\|}		\|}
	==Characteristic Chromosomal or Other Global Mutational Patterns==		==Characteristic Chromosomal or Other Global Mutational Patterns==

Wkhan: /* Individual Region Genomic Gain/Loss/LOH */

2025-10-02T20:35:30Z

Individual Region Genomic Gain/Loss/LOH

← Older revision		Revision as of 15:35, 2 October 2025
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	\|'''Rare (<5%) PMID: 37870438'''		\|'''Rare (<5%) PMID: 37870438'''
	\|D		\|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		\|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		\|Reported in individual cases; more common in glioneuronal/low-grade gliomas
	\|-		\|-
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	\|CDKN2A, CDKN2B		\|CDKN2A, CDKN2B
	\|D, P		\|D, P
	\|Yes (WHO CNS5, NCCN)		\|Yes (WHO CNS5, NCCN)
	\|'''Defining PXA feature; occurs in >85% of cases (PMID: 28181325)'''		\|'''Defining PXA feature; occurs in >85% of cases (PMID: 28181325)'''
	\|-		\|-
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	\|EGFR not typically amplified)		\|EGFR not typically amplified)
	\|D		\|D
	\|No (however, frequently mentioned in literature as a recurrent copy number change in PXA (PMID:		\|No (however, frequently mentioned in literature as a recurrent copy number change in PXA (PMID:
	\|~~Trisomy,~~ supports diagnosis~~; also seen in other gliomas~~		\|Frequent but non-specific; supports PXA diagnosis
	\|-		\|-
	\|<span class="blue-text">EXAMPLE:</span>		\|<span class="blue-text">EXAMPLE:</span>