Schwannoma — Variants & evidence

Schwannoma — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

6 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.

civicCuratedShowing 1–6 of 6 evidence items (4 on this page mapped to a descendant entity) · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
LZTR1 LOSS-OF-FUNCTION1
(predisposing)	Schwannomatosis	Predisposing	B	Supports Pathogenic	5	submitted	EID7058 Germline loss-of-function mutations in LZTR1 is a SMARCB1-independent predisposing factor that leads to Schwannomatosis, a late-onset tumor predisposition disorder. PMID 24362817 · Piotrowski et al., 2014 · Open in CIViC	civic
NF2 Mutation1
Everolimus	Vestibular SchwannomaALIAS	Predictive	B	Supports N/A	3	rejected	EID1671 Ten patients with Neurofibromatosis 2 were enrolled for treatment with Everolimus. At 12 months, no patients had reduction in tumor volume >20%, however, five patients had stable disease with a reduc… (full text at CIViC) PMID 25567352 · Goutagny et al., 2015 · Open in CIViC	civic
PRKAR1A PRKAR1A LOH, allelic imbalance 17q1
(oncogenic)	Melanotic SchwannomaALIAS	Oncogenic	B	Supports Oncogenicity	3	submitted	EID8936 This study evaluates the genetic features of melanotic schwannoma (MS). Twelve cases of MS were examined. A hybrid capture-based next-generation sequencing (NGS) assay screened the coding exons for mu… (full text at CIViC) PMID 26031761 · Wang et al., 2015 · Open in CIViC	civic
HTRA1 Fusion3
(diagnostic)	SchwannomaALIAS	Diagnostic	B	Supports Positive	5	submitted	EID12201 RT-PCR in 215 cases of Schwannomas in a diverse cohort resulted in 29 out of 215 harboring SH3PXD2A::HTRA1 fusion (in-frame fusion between SH3PXD2A (exon 6) and HTRA1 (exon 2)). Histological analysis … (full text at CIViC) PMID 38219951 · Lee et al., 2024 · Open in CIViC	civic
〃	SchwannomaALIAS	Diagnostic	B	Supports Positive	3	submitted	EID10309 This study described the genomic landscape of sporadic schwannomas. Among the 125 cases, 12 (10%) of them were identified to bear in-frame SH3PXD2A-HTRA1 fusion with RNA-seq. The fusion was found to b… (full text at CIViC) PMID 27723760 · Agnihotri et al., 2016 · Open in CIViC	civic
〃	Schwannomatosis	Diagnostic	C

Data updated 23 hours agoSource updated unknownsource: civic (CC0)

Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.