Sporadic vestibular schwannoma: a molecular testing summary.

doi:10.1136/jmedgenet-2020-107022

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Sporadic vestibular schwannoma: a molecular testing summary.

Journal of medical genetics - 1 Apr 2021

Sadler Katherine V, Bowers Naomi L, Hartley Claire, Smith Philip T, Tobi Simon, Wallace Andrew J, King Andrew, Lloyd Simon K W, Rutherford Scott, Pathmanaban Omar N, Hammerbeck-Ward Charlotte, Freeman Simon, Stapleton Emma, Taylor Amy, Shaw Adam, Halliday Dorothy, Smith Miriam Jane, Evans D Gareth

Abstract excerpt

OBJECTIVES: Cases of sporadic vestibular schwannoma (sVS) have a low rate of association with germline pathogenic variants. However, some individuals with sVS can represent undetected cases of neurofibromatosis type 2 (NF2) or schwannomatosis. Earlier identification of patients with these syndromes can facilitate more accurate familial risk prediction and prognosis. METHODS: Cases of sVS were ascertained from a...

Topics

Adolescent
Adult
Aged
Child
Child, Preschool
Diagnosis, Differential
Female
Genetic Predisposition to Disease
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Neurilemmoma

Neurofibromatoses

Neurofibromatosis 2

Neurofibromin 2

Neuroma, Acoustic

SMARCB1 Protein

Source

Open in PubMed

Identifiers

PMID: 32576656
DOI: 10.1136/jmedgenet-2020-107022

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sporadic vestibular schwannoma: a molecular testing summary.PMID 32576656Read ↗

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.Semantic proximity Read ↗

Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.Semantic proximity Read ↗

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1 -related schwannomatosisSemantic proximity Read ↗

Molecular biology of familial and sporadic vestibular schwannomas: implications for novel therapeutics.Semantic proximity Read ↗

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.Semantic proximity Read ↗

Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.Semantic proximity Read ↗

Genetic Analysis of Intracranial Schwannomas: Differential NF2 Alteration Frequencies in Nonvestibular Schwannomas Versus Vestibular SchwannomasSemantic proximity Read ↗

Pathogenic Variants and Allele Loss of the NF2 and LZTR1 Gene in Sporadic Vestibular SchwannomaSemantic proximity Read ↗

Familial schwannomatosisSemantic proximity Read ↗

Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.Semantic proximity Read ↗

What Genes Can Tell: A Closer Look at Vestibular Schwannoma.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.