Ding Yiming, Feng Yaru, Wells Michael, Huang Zhigang, Chen Xiaohong
Department of Otolaryngology, Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, People's Republic of China.
Department of Otolaryngology-Head and Neck Surgery, The Affiliated Hospital of Jining Medical University, Jining, Shandong, People's Republic of China.
Laryngoscope. 2019 Feb;129(2):E67-E71. doi: 10.1002/lary.27509. Epub 2018 Nov 28.
The goal of this study was to detect and explore the mechanisms of the succinate dehydrogenase (SDH) complex subunit-related gene mutations in cases of multiple paraganglioma (PGL) in the head and neck.
In Beijing Tongren Hospital (Capital Medical University, Beijing, People's Republic of China) between January 2013 and February 2017, 23 cases of head and neck multiple PGL were evaluated by genetic sequencing. From these cases, four hereditary families and 10 cases with sporadic occurrences were found. Gene mutations, including SDHD, SDHB, SDHC, SDHAF2, VHL and RET in germ cells and somatic cells, were detected by gene capture and high throughput sequencing.
In family 1, 12 instances of SDHD gene mutation were detected, eight of which manifested as bilateral carotid body tumor (CBT) with one bilateral malignant CBT. In family 2, three cases of SDHD mutation were found with one case of bilateral CBT and two cases of unilateral CBT. In family 3, two cases of SDHD gene mutation were found, both characterized by vagus PGL and pheochromocytoma. Of the 10 patients with sporadic manifestations, five cases of SDHD gene mutation and one case of RET gene mutation were detected. Two novel gene mutations, c.387_393del7 mutation of SDHD gene and c.3247A>G mutation of RET gene, were also detected.
In patients with multiple PGL in the head and neck, these are accompanied by a genetic mutation of the germ cell. In this case study, this mutation was most commonly a mutation of the SDHD gene.
4 Laryngoscope, 129:E67-E71, 2019.
本研究旨在检测并探究头颈部多发副神经节瘤（PGL）病例中琥珀酸脱氢酶（SDH）复合体亚基相关基因突变的机制。
在2013年1月至2017年2月期间于北京同仁医院（中国北京首都医科大学），对23例头颈部多发PGL患者进行了基因测序评估。从这些病例中，发现了4个遗传家族和10例散发病例。通过基因捕获和高通量测序检测生殖细胞和体细胞中的基因突变，包括SDHD、SDHB、SDHC、SDHAF2、VHL和RET。
在家族1中，检测到12例SDHD基因突变，其中8例表现为双侧颈动脉体瘤（CBT），1例为双侧恶性CBT。在家族2中，发现3例SDHD突变，其中1例双侧CBT，2例单侧CBT。在家族3中，发现2例SDHD基因突变，均表现为迷走神经PGL和嗜铬细胞瘤。在10例散发患者中，检测到5例SDHD基因突变和1例RET基因突变。还检测到2种新的基因突变，即SDHD基因的c.387_393del7突变和RET基因的c.3247A>G突变。
头颈部多发PGL患者伴有生殖细胞基因突变。在本病例研究中，这种突变最常见的是SDHD基因的突变。
4 喉镜，129:E67 - E71，2019年。
