Fakhry Nicolas, Niccoli-Sire Patricia, Barlier-Seti Anne, Giorgi Roch, Giovanni Antoine, Zanaret Michel
Service ORL et Chirurgie Cervico-Faciale, Centre Hospitalier Universitaire la Timone, 264, rue Saint Pierre, 13385 Marseille Cedex 05, France.
Eur Arch Otorhinolaryngol. 2008 May;265(5):557-63. doi: 10.1007/s00405-007-0517-4. Epub 2007 Nov 7.
To evaluate the prevalence of succinate dehydrogenase (SDH) B, C, and D germline mutations in a surgical series of cervical paragangliomas and to precise the characteristics of patients presenting with familial form. Among 29 patients operated on cervical paragangliomas (carotid or vagal body) at our institution between 1994 and 2007, 23 could be asked for a genetic analysis and a familial study. Clinical characteristics of patients harboring a germline SDH mutation were studied and compared with those presenting without mutation. Mutations were found in 8/23 (35%) patients, mostly in SDHD gene (6 cases), and in SDHB and SDHC gene, respectively, in one case each. Mean age at onset was significantly lower for patients with mutation (34 vs. 51.5 years, P = 0.01). In patients presenting with a mutation, 50% had a family history of paraganglioma compared with 0% for others (P = 0.008) and 87.5% had a multifocal form of paragangliomas versus 0% for others (P = 0.001). No difference was found concerning malignant forms between the two groups (12.5 vs. 13.3%). In the 16 patients who had an apparently sporadic paraganglioma, 6% had mutations in the SDH gene. A positive family history of paraganglioma and/or the presence of bilateral or multiple paragangliomas and/or an early age of onset are the main parameters associated with SDH mutations. Genetic testing should be considered for all patients with a cervical paraganglioma, even for those presenting with an apparently sporadic tumor as familial form may be such identified in 6% of cases.
评估手术切除的一系列颈副神经节瘤中琥珀酸脱氢酶（SDH）B、C和D种系突变的患病率，并明确家族性形式患者的特征。1994年至2007年间，在我们机构接受颈副神经节瘤（颈动脉体或迷走神经体）手术的29例患者中，23例可进行基因分析和家族研究。对携带种系SDH突变患者的临床特征进行研究，并与未发生突变的患者进行比较。在23例患者中有8例（35%）发现突变，大多数发生在SDHD基因（6例），SDHB和SDHC基因各有1例。突变患者的平均发病年龄显著更低（34岁对51.5岁，P = 0.01）。有突变的患者中，50%有副神经节瘤家族史，而其他患者为0%（P = 0.008）；87.5%有多发性副神经节瘤，而其他患者为0%（P = 0.001）。两组之间在恶性形式方面未发现差异（12.5%对13.3%）。在16例明显为散发性副神经节瘤的患者中，6%的患者SDH基因有突变。副神经节瘤的阳性家族史和/或双侧或多发副神经节瘤的存在和/或发病年龄较早是与SDH突变相关的主要参数。所有颈副神经节瘤患者均应考虑进行基因检测，即使是那些表现为明显散发性肿瘤的患者，因为6%的病例可能会被鉴定为家族性形式。
