As routine diagnostic procedure all SDH mutation carriers should have urine catecholamine analysis as well as pelvic, abdominal, thoracic and skull/neck MRI.doi:10.1007/s10689-004-4227-4Christian PawluBirke BauschHartmut P H NeumannKluwer Academic PublishersFamilial Cancer...
简介琥珀酸脱氢酶是一种线粒体酶复合体,具体包括四种亚基,即SDHA、SDHB、SDHC、SDHD。某些瘤种与SDH缺陷有关,涉及SDH复合体基因的复现性突变(recurring mutation)、或SDHC的表突变(epimutation),具体涉及的瘤种如嗜铬细胞瘤/副节瘤、胃肠道间质瘤、肾细胞癌。SDH种系性致病...
通过对散发性嗜铬细胞瘤家系进行基因突变分析也为早期阶段典型症状体征未出现前肿瘤的检出提供可能。关键词:SDHB基因,SDHD基因,突变,嗜铬细胞瘤,副神经节瘤,聚合酶链式反应(PCR)上海交通大学医学院硕士学位论文-IV-MUTATIONANALYSISOFSDHBGENEANDSDHDGENEINSPORADICPATIENTSWITHPHEOCHRO...
y1407345分类号;R739.91密级:学位类别:科学学位曰专业学位口◎学校代码:学号l0062加惦24惦又蚌酱科矢垮TlANJINMEDlCALUNIVERSlll硕士学位论文MASTER’SDISSER,I:ATIoN论文题目:副神经节瘤SDHD、SDHB基因突变分析TITLEAnalysisofSDHDandSDHBgenemutationsinparagangliomas一级学科:临床医学二级学科:肿瘤学论文作者:**指导...
[19] Elston MS,Sehgal S,Dray M,et al.A duodenal SDH-deficient gastrointestinal stromal tumor in a patient with a germline SDHB mutation[J].J Clin Endocrinol Metab,2017,102(5):1447-1450. [20] 成元华,张钟凤,祝和芬,等.琥珀酸脱氢酶缺陷型胃肠道间质瘤的临床病理特征观察[J].中华病理学杂志...
Mutation, MissenseMutations of succinate dehydrogenase subunit B (SDHB) play a crucial role in the pathogenesis of the most aggressive and metastatic pheochromocytomas (PHEOs) and paragangliomas (PGLs). Although a variety of missense mutations in the coding sequence of the SDHB gene have been found...
ParagangliomaResistance to Somatostatin AnalogsSDHB geneSomatotropinomaWe present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma. She was initially treated for a glomus tumour with external beam radiotherapy...
A novel SDHB mutation (c.642G>A, p Q214Q), detected in the UBPGL, was proven to be somatic. Although this variant was seemingly synonymous, it was predicted to have a loss of function due to the splice site effect, which was further supported by the immun...
中国癌症杂志2014年第24卷第8期CHINA0NCOLOGY20l4Vo1.24No.8589嗜铬细胞瘤PLAGL1基因表达及甲基化水平与SDHB基因突变相关性研究杨立新张丽娜张天彪。1.沈阳医学院附属中心医院内分泌科,辽宁沈阳110024;2.沈阳医学院附属中心医院重症医学科,辽宁沈阳110024;3.中国医科大学生物化学与分子生物学教研室,辽宁沈阳110001[摘要...
If SDH molecular genetic analysis fails to detect a mutation in SDHB-immunonegative tumor, SDHC promoter methylation and/or VHL/NF1 testing with the use of targeted next-generation sequencing is advisable. 机译:尽管SDHB / SDHA免疫组织化学作为确定家族性琥珀酸脱氢酶相关嗜铬细胞瘤/副神经节瘤风险...