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Meningioma arising in Werner syndrome confirmed by mutation analysis
Yukio Nakamura1, Tominaga Shimizu, Youji Ohigashi
1Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan. yxn14@cwru.edu
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.
Clinical Presentation:
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.
Investigation:
To confirm the clinical diagnosis, a mutation analysis based on the mutant allele-specific amplification (MASA) method was performed.
Conclusion:
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.
