Biomaterial Database

Loss of alleles in vestibular schwannomas: use of microsatellite markers on chromosome 22. 1993

J Sainz, and M E Baser, and N K Ragge, and R A Nelson, and S M Pulst

Neurogenetics Laboratory, Division of Neurology, Cedars-Sinai Medical Center, CA 90048, USA.

OBJECTIVE Using highly informative microsatellite markers flanking the neurofibromatosis type 2 gene, we determined the frequency of chromosome 22 allele loss in vestibular schwannomas. METHODS Peripheral lymphocyte/vestibular schwannoma DNA pairs were analyzed with five different microsatellite markers on chromosome 22. METHODS Samples were taken from 32 patients (17 females and 15 males). Twenty-seven tumors occurred sporadically, and five were from patients with neurofibromatosis type 2. RESULTS Using the microsatellite markers D22S351, CRYB2, D22S268, D22S304, and interleukin type 2RP3, we found loss of heterozygosity for at least two markers in 12 tumors. Ten tumors showed loss of heterozygosity for markers flanking the neurofibromatosis type 2 gene. Although microsatellite markers require little DNA for analysis and are highly informative, allele patterns may be difficult to interpret in some cases. CONCLUSIONS Loss of heterozygosity of chromosome 22 alleles was a frequent event in vestibular schwannomas. In 10 tumors, heterozygosity was lost for centromeric and telomeric markers indicating likely monosomy 22. However, 63% of tumors did not reveal a detectable chromosomal loss. Unless a second vestibular schwannoma locus exists, these tumors likely harbor point mutations in the neurofibromatosis type 2 gene or deletions below the level of resolution of the markers used in this study.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009464	Neuroma, Acoustic	A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)	Acoustic Neuroma,Melanocytic Vestibular Schwannoma,Schwannoma, Acoustic,Schwannoma, Vestibular,Acoustic Neuroma, Cerebellopontine Angle,Acoustic Tumor,Angle Tumor,Cerebellopontine Angle Acoustic Neuroma,Cerebellopontine Angle Tumor,Neurilemmoma, Acoustic,Neurilemoma, Acoustic,Neurinoma of the Acoustic Nerve,Neurinoma, Acoustic,Neuroma, Acoustic, Unilateral,Vestibular Schwannoma,Acoustic Neurilemmoma,Acoustic Neurilemmomas,Acoustic Neurilemoma,Acoustic Neurilemomas,Acoustic Neurinoma,Acoustic Neurinomas,Acoustic Neuromas,Acoustic Schwannoma,Acoustic Schwannomas,Acoustic Tumors,Angle Tumor, Cerebellopontine,Angle Tumors,Angle Tumors, Cerebellopontine,Cerebellopontine Angle Tumors,Melanocytic Vestibular Schwannomas,Neurilemmomas, Acoustic,Neurilemomas, Acoustic,Neurinomas, Acoustic,Neuromas, Acoustic,Schwannoma, Melanocytic Vestibular,Schwannomas, Acoustic,Schwannomas, Melanocytic Vestibular,Schwannomas, Vestibular,Tumor, Acoustic,Tumor, Angle,Tumor, Cerebellopontine Angle,Tumors, Acoustic,Tumors, Angle,Tumors, Cerebellopontine Angle,Vestibular Schwannoma, Melanocytic,Vestibular Schwannomas,Vestibular Schwannomas, Melanocytic
D002503	Centromere	The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.	Centromeres
D002892	Chromosomes, Human, Pair 22	A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.	Chromosome 22
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016133	Polymerase Chain Reaction	In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.	Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain
D016515	Genes, Neurofibromatosis 2	Tumor suppressor genes located on the long arm of human chromosome 22. Mutation or loss of these genes causes NEUROFIBROMATOSIS 2.	Genes, nf2,Neurofibromatosis 2 Genes,nf2 Genes,Genes, nf 2,Gene, Neurofibromatosis 2,Gene, nf 2,Gene, nf2,Neurofibromatosis 2 Gene,nf 2 Gene,nf 2 Genes,nf2 Gene
D016518	Neurofibromatosis 2	An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.	Neurofibromatosis, Acoustic, Bilateral,Neurofibromatosis, Central, NF2,Neuroma, Acoustic, Bilateral,Schwannoma, Acoustic, Bilateral,Acoustic Neurinoma, Bilateral,Acoustic Schwannomas, Bilateral,Bilateral Acoustic Neurofibromatosis,Central Neurofibromatosis,Familial Acoustic Neuromas,NF2 (Neurofibromatosis 2),Neurofibromatosis II,Neurofibromatosis Type 2,Neurofibromatosis Type II,Neurofibromatosis, Central NF2,Neurofibromatosis, Central, NF 2,Neurofibromatosis, Type 2,Neurofibromatosis, Type II,Neurofibromatosis, central type,Acoustic Neurinomas, Bilateral,Acoustic Neurofibromatoses, Bilateral,Acoustic Neurofibromatosis, Bilateral,Acoustic Neuroma, Familial,Acoustic Neuromas, Familial,Acoustic Schwannoma, Bilateral,Bilateral Acoustic Neurinoma,Bilateral Acoustic Neurinomas,Bilateral Acoustic Neurofibromatoses,Bilateral Acoustic Schwannoma,Bilateral Acoustic Schwannomas,Central NF2 Neurofibromatoses,Central NF2 Neurofibromatosis,Central Neurofibromatoses,Familial Acoustic Neuroma,NF2s (Neurofibromatosis 2),Neurinoma, Bilateral Acoustic,Neurinomas, Bilateral Acoustic,Neurofibromatoses, Bilateral Acoustic,Neurofibromatoses, Central,Neurofibromatoses, Central NF2,Neurofibromatoses, Type 2,Neurofibromatoses, Type II,Neurofibromatosis IIs,Neurofibromatosis, Bilateral Acoustic,Neurofibromatosis, Central,Neuroma, Familial Acoustic,Neuromas, Familial Acoustic,Schwannoma, Bilateral Acoustic,Schwannomas, Bilateral Acoustic,Type 2 Neurofibromatoses,Type 2 Neurofibromatosis,Type II Neurofibromatoses,Type II Neurofibromatosis
D016615	Telomere	A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.	Telomeres