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.
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.
Authors: Mari Tokita; Scott R Kennedy; Rosa Ana Risques; Stephen G Chun; Colin Pritchard; Junko Oshima; Yan Liu; Peter K Bryant-Greenwood; Piri Welcsh; Raymond J Monnat Journal: Sci Rep Date: 2016-08-25 Impact factor: 4.379
Authors: Juan Manuel Iglesias-Pedraz; Diego Matia Fossatti-Jara; Valeria Valle-Riestra-Felice; Sergio Rafael Cruz-Visalaya; Jose Antonio Ayala Felix; Lucio Comai Journal: BMC Mol Cell Biol Date: 2020-10-14