Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene.
Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene.
复制标题
嗜铬细胞瘤和副神经节瘤中 SDHB 和 SDHD 基因的突变分析：SDHB 基因中新型无义突变 (Q168X) 的鉴定。
作者：
Yohmi Oishi;S. Nagai;Miyuki Yoshida;S. Fujisawa;A. Sazawa;N. Shinohara;K. Nonomura;K. Matsuno;Chikara Shimizu
嗜铬细胞瘤（PCC）和副神经节瘤（PGL）是自主神经系统的肿瘤。前者是一种仅发生在肾上腺的肿瘤，后者可以在头颈部或胸部和腹部发现。在PCC和PGL中，基因突变约占功能性（分泌儿茶酚胺）和非功能性病例的30%。除RET、VHL和NF-1外，编码琥珀酸脱氢酶复合物亚基B（SDHB）、亚基C（SDHC）和亚基D（SDHD）的基因也被认为是PCC和PGL的易感基因。近年来，由SDHB、SDHC和SDHD基因突变引起的PCC和PGL被确定为遗传性嗜铬细胞瘤副神经节瘤综合征（HPPS）。大约15%的PCC和PGL被认为是HPPS。在这三个易感基因中，已知SDHB和SDHD与HPPS密切相关。本研究的目的是分析PCC和PGL患者的SDHB和SDHD突变。在18例患者中，我们发现了一种新的杂合无义突变，在密码子168导致CAG（谷氨酰胺）TAG（终止）取代（Q168 X）在SDHB基因诊断为孤立散发性PGL的患者。许多研究报道，SDHB突变相关的疾病表现出更高的恶性率。然而，在本研究中诊断为恶性肿瘤的所有7例患者均未发生SDHB基因突变，只有1例无恶性体征的患者发生SDHB基因突变。需要进一步积累病例以确认SDHB突变与恶性潜能之间的关联。
Pheochromocytoma (PCC) and paraganglioma (PGL) are tumors of the autonomic nervous system. The former is a tumor that occurs in only adrenal glands, and the latter can be found in the head and neck or in the thorax and abdomen. In PCC and PGL, genetic mutations account for approximately 30% of functional (secrete catecholamines) and nonfunctional cases. In addition to RET, VHL and NF-1, genes encoding succinate dehydrogenase complex subunit B (SDHB), subunit C (SDHC), and subunit D (SDHD) are recognized as susceptibility genes for PCC and PGL. Recently, PCC and PGL caused by genetic mutations of SDHB, SDHC and SDHD were established as hereditary pheochromocytoma paraganglioma syndrome (HPPS). Approximately 15% of all PCCs and PGLs are recognized as HPPS. Among these three susceptibility genes, SDHB and SDHD are known to be strongly related to HPPS. The aim of this study was to analyze SDHB and SDHD mutations in PCC and PGL patients. Among 18 patients, we identified a novel heterozygous nonsense mutation at codon 168 resulting in a CAG (glutamine) to TAG (stop) substitution (Q168X) in the SDHB gene in a patient diagnosed with solitary sporadic PGL. A number of studies have reported that SDHB mutation-associated disease demonstrates a higher rate of malignancy. However, all seven patients diagnosed with malignancy in this study did not have genetic mutation of SDHB and only one patient with no malignant sign had genetic mutation of SDHB. Further accumulation of cases is necessary to confirm the association between SDHB mutation and malignant potential.
嗜铬细胞瘤中 SDHD 基因（家族性副神经节瘤综合征 (PGL1) 的易感基因）的分析。
DOI：
10.1210/jcem.86.6.7547
发表时间：
2001
期刊：
The Journal of clinical endocrinology and metabolism.
影响因子：
--
作者：
Aguiar,RC;Cox,G;Pomeroy,SL;Dahia,PL
通讯作者：
Dahia,PL
影响因子：
56.9
作者：
Baysal, BE;Ferrell, RE;Devlin, B
通讯作者：
Devlin, B