PedAM
Pediatric Disease Annotations & Medicines
| Disease | schwannomatosis |
| Phenotype | C0027809|schwannoma |
| Sentences | 2 |
| PubMedID- 24763291 | It is clinically and genetically distinct from nf type 1 (nf1) and nf type 2 (nf2).1 although biallelic nf2 mutations are found in every schwannoma in individuals with schwannomatosis, constitutional nf2 mutations are not found in schwannomatosis patients.2 germline alterations of the smarcb1/ini1/hsnf5 gene, encoding a core component of the swi/snf chromatin remodeling complex, occur in 40–60% of schwannomatosis families and in 10% of sporadic cases; however, further causative genes remain to be found.3,4 interestingly, piotrowski et al.5 have most recently identified lztr1 gene mutations predisposing to multiple schwannomas in ~80% of 22q-related schwannomatosis cases lacking mutation in smarcb1, indicating that various genetic abnormalities may potentially lead to the same disease. |
| PubMedID- 22082606 | Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline smarcb1 mutation. |
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