SDHB患病率、SDHC SDHD遗传突变在诊所头颈部副神经节瘤患者。
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Baysal, Willett-Brozick我,劳伦斯•EC Drovdlic厘米,Savul SA,麦克劳德博士,绮哈,Brackmann DE, Slattery WH 3日,迈尔斯,法瑞尔再保险,鲁宾斯坦WS
SDHB患病率、SDHC SDHD遗传突变在诊所头颈部副神经节瘤患者。
J地中海麝猫。2002年3月,39 (3):178 - 83。
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11897817 (在PubMed]
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背景:副神经节瘤是罕见的和高度遗传性肿瘤起源于neuroectodermal经常在头部和颈部地区发展。在线粒体复合体II基因的种系突变,SDHB, SDHC SDHD,导致遗传性副神经节瘤(PGL)。方法:我们评估了SDHB频率、SDHC, SDHD PCR扩增和测序基因突变的一组头颈部副神经节瘤患者以前在美国托管在两耳鼻咽喉科诊所。结果:55受试者分成10个家庭和37 non-familial病例。五个non-familial多个肿瘤病例。生殖系SDHD突变被确定在5 10(50%)的家庭和两个37(大约5%)non-familial病例。R38X、P81L H102L、Q109X L128fsX134突变被确定在家族病例和P81L被确认non-familial病例。两non-familial多个肿瘤病例。P81L和R38X突变曾被报道在其他PGL家庭和P81L建议作为创始人突变。不同染色体携带这些突变的等位基因的分析并没有显示出疾病常见的单体型,强烈建议R38X和P81L可能复发性突变。 Germline SDHB mutations were identified in two of 10 (20%) familial and one of 33 ( approximately 3%) non-familial cases. P131R and M71fsX80 were identified in the familial cases and Q59X was identified in the one non-familial case. The non-familial case had a solitary tumour. No mutations could be identified in the SDHC gene in the remaining four families and 20 sporadic cases. CONCLUSIONS: Mutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and approximately 8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations.