The neurofibromatosis type 2 gene is mutated in perineurial cell tumors: A molecular genetic study of eight cases

American Journal of Pathology

Volumn 158, Issue 4, 2001, Pages 1223-1229

  Lasota, Jerzy ^a   Fetsch, John F ^a   Wozniak, Agnieszka ^a,c   Wasag, Bartek ^a,c   Sciot, Raf ^b   Miettinen, Markku ^a  

^a ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; EPITHELIAL MEMBRANE ANTIGEN; PROTEIN S 100;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CODON; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE MUTATION; HETEROZYGOSITY LOSS; HISTOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; NERVE TUMOR; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; PERINEURIUM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TUMOR SUPPRESSOR GENE;

EID: 0035069975     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)64072-2     Document Type: Article

References (38)

1. Immunohistochemical detection of epithelial membrane antigen in normal and perineurial cells and perineurioma
2. Epithelial membrane antigen expression by the perineurial cell; further studies of peripheral nerve lesions
3. The enigmatic perineurial cell and its participation in tumors and in tumorlike entities
4. Sclerosing perineurioma. A clinicopathologic study of 19 cases of distinctive soft tissue lesion with a predilection for the fingers and palms of young adults
5. Perineurial cells coexpress genes encoding interstitial collagens and basement membrane zone components
6. Ultrastructural identification of a benign perineurial cell tumor
7. Perineurioma: An uncommon soft tissue neoplasm distinct from localized hypertrophic neuropathy and neurofibroma
8. Perineurioma
9. Extraneural retiform perineuriomas. A report of four cases
10. Perineurial malignant peripheral nerve sheath tumor (MPNST): A clinicopathologic, immunohistochemical, and ultrastructural study of seven cases
11. Intraneural perineurioma. A clonal neoplasm associated with abnormalities of chromosome 22
12. Soft-tissue perineurioma. Evidence for an abnormality of chromosome 22, criteria for diagnosis, and review of the literature
13. Cutaneous sclerosing perineurioma with cryptic NF2 gene deletion
14. Tumors of the nervous system
15. Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas
16. Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma
17. Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma
18. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2
19. Mutation and cancer: Statistical study of retinoblastoma
20. Universal absence of merlin, but not other ERM family members, in schwannomas
21. Loss of merlin expression in sporadic meningiomas, ependymomas and schwannomas
22. Reduced expression of schwannomin/merlin in human sporadic meningiomas
23. Molecular diagnosis of mantle cell lymphoma in paraffin-embedded tissue
24. Detection of the SYT-SSX fusion transcripts in formaldehyde-fixed, paraffin-embedded tissue: A reverse transcription polymerase chain reaction amplification assay useful in the diagnosis of synovial sarcoma
25. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
26. Screening for germ-line mutations in the NF2 gene
27. Germ-line mutations in the neurofibromatosis 2 gene: Correlations with disease severity and retinal abnormalities
28. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
29. Exhaustive characterization of the NF2 gene in neurofibromatosis type 2 patients
30. NF2 gene mutations and allelic status of 1p, 14q and 22q in sporadic meningiomas
31. Analysis of mutations in the SCH gene in schwannomas
32. The neurofibromatosis type 2 gene is inactivated in schwannomas
33. Characterisation of 16 polymorphic markers in the NF2 gene: Application to hemizygosity detection
34. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations
35. Tight association of loss of merlin expression with loss of heterozygosity at chromosome 22q in sporadic meningiomas
36. Molecular characterization of germline NF2 gene rearrangements
37. The involvement of calpain-dependent proteolysis of the tumor suppressor NF2 (merlin) in schannomas and meningiomas
38. A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene