Otani Naoyuki, Sugano Kokichi, Inami Shu, Amano Hirohisa, Arikawa Takuo, Saito Shinya, Imai Kazuho, Ushiama Mineko, Yoshida Teruhiko, Kimura Noriko, Toyoda Shigeru, Inoue Teruo
Department of Cardiovascular Medicine Dokkyo Medical University.
Oncogene Res Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute.
Jpn J Clin Oncol. 2017 Dec 1;47(12):1193-1197. doi: 10.1093/jjco/hyx132.
A 58-year-old woman with a past medical history of a carotid body tumor, resected 4 months prior to presentation, was admitted to our hospital for treatment of a cardiac tumor that was identified on post-operative echocardiography and chest computed tomography. The cardiac tumor was surgically removed and identified pathologically as a paraganglioma, similarly to the carotid body tumor. Genetic analysis of both tumors identified a non-synonymous mutation in the succinate dehydrogenase (SDH) gene D, Exon4, c.320T>C, p.Leu107Pro showing co-segregation with paternal transmission and maternal imprinting among family members. This novel mutation appears to be the cause of familial paraganglioma in this patient.
一名58岁女性，既往有颈动脉体瘤病史，在此次就诊前4个月接受了切除手术，因术后超声心动图和胸部计算机断层扫描发现心脏肿瘤而入住我院接受治疗。该心脏肿瘤经手术切除，病理检查确诊为副神经节瘤，与颈动脉体瘤相似。对这两种肿瘤进行基因分析，在琥珀酸脱氢酶（SDH）基因D的第4外显子中发现一个非同义突变，即c.320T>C，p.Leu107Pro，在家庭成员中显示出与父系遗传和母系印记的共分离。这一新突变似乎是该患者家族性副神经节瘤的病因。
