Nakamura Yukio, Shimizu Tominaga, Ohigashi Youji, Itou Nobuo, Ishikawa Yuichi
Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan.
J Clin Neurosci. 2005 May;12(4):503-6. doi: 10.1016/j.jocn.2003.12.022.
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.
先前已有关于沃纳综合征患者发生脑膜瘤的描述，但从未进行过相关突变分析。我们报告首例确诊存在主要突变的沃纳综合征患者并发脑膜瘤的病例。此外，我们回顾了27例先前报道的与沃纳综合征相关的脑膜瘤患者。
我们报告一名56岁患有沃纳综合征和脑膜瘤的日本女性。她表现为右眼疼痛、发红及头痛。头颅CT显示右侧额叶和颞叶有一肿瘤。手术切除后病理检查确诊为脑膜瘤。她表现出沃纳综合征的典型特征，包括青少年白内障、身材矮小、体重偏低、鸟样面容、声音嘶哑以及干燥、萎缩、色素沉着的皮肤。
为确诊临床诊断，采用基于突变等位基因特异性扩增（MASA）方法进行突变分析。
外周血白细胞DNA突变分析显示突变扩增为4/4。日本报道了22例沃纳综合征合并脑膜瘤患者，国外报道了5例。仅1例为恶性脑膜瘤。沃纳综合征患者的脑膜瘤男性发病率更高，且发病年龄比普通人群更年轻。
