Objective and importance:
Meningioma arising in Werner syndrome has been described previously, but never in association with a mutation analysis. We present the first reported case of meningioma in a patient with Werner syndrome and a confirmed major mutation. In addition, we review 27 previously reported patients with meningioma associated with Werner syndrome.
We report a 56-year-old Japanese woman with Werner syndrome and a meningioma. She presented with pain and redness of the right eye and a headache. Cranial CT revealed a tumor the in right frontal and temporal lobes. Pathological examination after surgical removal confirmed meningioma. She displayed typical features of Werner syndrome including juvenile cataract, short stature and low weight, a bird-like face, a hoarse voice, and dry, atrophic, pigmented skin.
To confirm the clinical diagnosis, a mutation analysis based on the mutant allele-specific amplification (MASA) method was performed.
Mutation analysis of peripheral blood leukocyte DNA showed amplification of the mutation 4/4. There were 22 patients with Werner syndrome and meningioma reported from Japan and 5 from outside Japan. There was only one malignant meningioma. Meningiomas in Werner syndrome have a higher frequency in males and occur at a younger age than those of the general population.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Journal of Clinical Neuroscience
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
Werner O. Uber kataract in vervindung mit sklerodermie. Doctoral dissertation, Kiel University, Kiel: Schemidt and Klaunig; 1904 [unpublished data]
- Family analysis of Werner syndrome: a survey of 42 Japanese families with a review of the literature.Clin Genet. 1981; 19: 8-15
- Werner’s syndrome: a review of recent research with an analysis of connective tissue metabolism, growth control of cultured cells and chromosomal aberrations.Hum Genet. 1982; 62: 1-5
- Excess of rare cancers in Werner syndrome (adult progeria).Cancer Epidemiol Biomark Prev. 1996; 5: 239-246
- Hierarchical deterioration of body systems in Werner syndrome: implications for normal ageing.Mech Ageing Dev. 1997; 98: 239-254
- Elevation of serum hyaluronan level in Werner’s syndrome.Gerontology. 1991; 47: 77-81
- Immunohistochemical analysis of p16INK4a, p14ARF, p18INK4c, p21CIP1, p27KIP1 and p73 expression in 271 meningiomas correlation with tumor grade and clinical outcome.Int J Cancer. 2004; 104: 728-734
- A surgical case of meningioma with unique histology associated with Werner syndrome.Saibokaku Byorigaku Zasshi. 1985; 22: 85-86
- Mutation and haplotype analysis of the Werner’s syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population.Hum Genet. 1997; 100: 123-130
- Genetic linkage of Werner’s syndrome to five markers on chromosome 8.Nature. 1992; 355: 735-788
- Werner’s syndrome associated with meningioma: case report.No Shinkei Geka. 1988; 16 ([in Japanese]): 189-194
- Improvement of abnormal glucose tolerance after resection of meningioma in a case of Werner’s syndrome.Nippon Naika Gakkai Zasshi. 1980; 69 ([in Japanese]): 1469-1473
- Werner syndrome.Gerontology. 1995; 7 ([in Japanese]): 37-41
- Two cases of Werner syndrome.Prog CI. 1997; 19 ([in Japanese]): 67-72
- Werner syndrome associated with multiple meningiomas.No Shinkei Geka. 1997; 7 ([in Japanese]): 841-845
- Four cases of Werner syndrome with reference to the orthopaedic aspects.Chubu Seikei Geka Gakkai Zasshi. 1991; 34 ([in Japanese]): 786-790
- A case of Werner syndrome complicated with meningioma and MDS.To Nyo Byoshi. 1990; 33 ([in Japanese]): 180
- Prevalence of Werner’s syndrome heterozygotes in Japan.Lancet. 1999; 353: 1766
- Positional cloning of the Werner’s syndrome gene.Science. 1996; 272: 258-262
- Mutation-causing mutations.Nature. 1996; 381: 110-111
- Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype–phenotype relations to cell type and race.Cancer. 1999; 85: 1345-1352
Accepted: December 8, 2003
Received: June 10, 2003
© 2005 Elsevier Ltd. Published by Elsevier Inc. All rights reserved.