The presence of SDHB mutations should modify surgical indications for carotid body paragangliomas.
The presence of SDHB mutations should modify surgical indications for carotid body paragangliomas.
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DOI：
10.1097/sla.0000000000000283
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发表时间：
2014-07
影响因子：
9
通讯作者：
Kebebew E
中科院分区：
文献类型：
--
作者：
Ellis RJ;Patel D;Prodanov T;Nilubol N;Pacak K;Kebebew E
本研究的目的是确定该疾病的遗传背景是否应纳入治疗决策。颈动脉体副神经节瘤是一种罕见的肿瘤，通常发生在琥珀酸脱氢酶复合物（SDHx）基因突变的患者身上。尽管越来越多的证据表明生殖系基因突变会改变副神经节瘤的侵袭性，但目前治疗决策仅基于颈动脉体副神经节瘤患者的临床症状和肿瘤大小。回顾性分析34例经基因检测及手术治疗的颈动脉体副神经节瘤患者。复发的定义是局部疾病的复发和/或远处转移的发展。分析临床特征和基因检测结果作为患者预后的预测因素。34例患者行41例颈动脉原发性体副神经节瘤切除术（中位随访时间42个月，范围1 ~ 293例）。总生存率为91.2%。12例SDHB有种系突变，17例SDHD有种系突变，5例未携带已知突变。手术切除较大肿瘤与较高的手术并发症相关（优势比：5.4,P = 0.05）。SDHB突变患者切除时肿瘤大小明显小于非SDHB突变患者（2.1 cm vs 3.3 cm, P = 0.02）。与没有SDHB基因突变的患者相比，SDHB基因突变的患者的无病生存期也明显更差（P = 0.03）。SDHB基因突变与颈动脉体副神经节瘤患者切除术后较差的无病生存率相关，尽管早期干预。这表明SDHB突变患者需要更积极的手术治疗。
The aim of this study was to determine whether the genetic background of the disease should be incorporated into treatment decision making. Carotid body paragangliomas are rare tumors that often affect patients with genetic mutations of the succinate dehydrogenase complex (SDHx). Despite growing evidence that germ line genetic mutations alter the aggressiveness of paragangliomas, treatment decisions are currently based only on clinical symptoms and tumor size in patients with carotid body paragangliomas. Retrospective analysis of 34 patients with carotid body paragangliomas who underwent genetic testing and surgical treatment. Recurrence was defined by the return of locoregional disease and/or development of distant metastases. Clinical characteristics and genetic testing results were analyzed as predictors of patient outcomes. Thirty-four patients underwent 41 primary carotid body paraganglioma resections (median follow-up time of 42 months, range: 1–293). Overall survival was 91.2%. Twelve patients had germ line mutations in SDHB, 17 in SDHD, and 5 carried no known mutation. Surgical resection of larger tumors was associated with higher operative complications (odds ratio: 5.4, P = 0.05). Tumor size at resection was significantly smaller in patients with SDHB mutations than in patients with non-SDHB mutations (2.1 vs 3.3 cm, P = 0.02). Patients with a mutation in the SDHB gene also had significantly worse disease-free survival compared with patients without an SDHB gene mutation (P = 0.03). Mutations in the SDHB gene are associated with worse disease- free survival after resection in patients with carotid body paragangliomas despite earlier intervention. This suggests that a more aggressive surgical approach is warranted in patients with SDHB mutations.