Meningioma arising in Werner syndrome confirmed by mutation analysis.
OBJECTIVE
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.


METHODS
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.


METHODS
To confirm the clinical diagnosis, a mutation analysis based on the mutant allele-specific amplification (MASA) method was performed.


CONCLUSIONS
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.
Nakamura
Yukio
Y
Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan. yxn14@cwru.edu
Shimizu
Tominaga
T
Ohigashi
Youji
Y
Itou
Nobuo
N
Ishikawa
Yuichi
Y
D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008577:Meningeal Neoplasms / Q000209:etiology / Q000235:genetics*; D008579:Meningioma / Q000209:etiology / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012196:Review Literature as Topic; D014898:Werner Syndrome / Q000150:complications / Q000235:genetics*
D012333:RNA, Messenger