一名复发性家族性颈动脉体瘤合并嗜铬细胞瘤患者的新型种系SDHD突变

Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma.

作者信息

Kim Eun Sook, Kim Su Yeon, Mo Eun Young, Jang Dong Kyu, Moon Sung Dae, Han Je Ho

机构信息

Division of Endocrinology and Metabolism, Department of Internal Medicine, The Catholic University of Korea College of Medicine, Incheon St. Mary's Hospital, Incheon, Korea.

出版信息

Head Neck. 2014 Dec;36(12):E131-5. doi: 10.1002/hed.23670. Epub 2014 Jun 18.

DOI:10.1002/hed.23670

PMID:24599702

Abstract

BACKGROUND

Recent advances in genetics revealed that 25% to 30% of head and neck paragangliomas (PGLs) are inherited tumors associated with germline mutation, mainly in the succinate dehydrogenase (SDH) gene.

METHODS

DNA was isolated from whole blood and polymerase chain reaction (PCR) products were sequenced with an ABI3730 × 1 Genetic Analyzer.

RESULTS

A 30-year-old Korean woman underwent resection of a carotid PGL. Fourteen years later, she was readmitted for a cervical mass. (18) F-fluorodeoxyglucose (FDG)-positron emission tomography (PET)/CT revealed a hot spot in the adrenal gland, besides the carotid mass. Surgical pathology confirmed recurrence of the carotid PGL and a concomitant pheochromocytoma. Genetic analysis revealed SDHD c.119del T (p.I40TfsX46) mutation. One daughter has been identified as a carrier.

CONCLUSION

We found a novel SDHD mutation from a Korean family that shows similar clinical features to those in other SDHD mutations, mostly from Western countries. Further studies are needed to determine whether similar genotype-phenotype correlations exist in the Asian patients with familial PGLs.

摘要

背景

遗传学的最新进展表明，25%至30%的头颈部副神经节瘤（PGLs）是与种系突变相关的遗传性肿瘤，主要发生在琥珀酸脱氢酶（SDH）基因中。

方法

从全血中分离DNA，并用ABI3730×1基因分析仪对聚合酶链反应（PCR）产物进行测序。

结果

一名30岁的韩国女性接受了颈动脉PGL切除术。14年后，她因颈部肿块再次入院。（18）F-氟脱氧葡萄糖（FDG）-正电子发射断层扫描（PET）/CT显示，除了颈动脉肿块外，肾上腺还有一个热点。手术病理证实颈动脉PGL复发并伴有嗜铬细胞瘤。基因分析显示SDHD基因存在c.119del T（p.I40TfsX46）突变。已确定一个女儿为携带者。