Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome
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DOI：
10.1038/nrendo.2009.250
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发表时间：
2010-02-01
影响因子：
40.5
通讯作者：
Jimenez, Camilo
中科院分区：
文献类型：
--
作者：
Ayala-Ramirez, Montserrat;Callender, Glenda G.;Jimenez, Camilo
背景资料。一位33岁男性因左颈肿块及高血压被转诊至专科中心。患者接受了手术，证实为颈部恶性副神经节瘤并转移至颈部淋巴结。他没有颈动脉体瘤或嗜铬细胞的家族史。血浆游离偏甲肾上腺素和嗜铬粒蛋白A的测量；CT、F-18-氟代脱氧葡萄糖PET和I-123标记的偏苯基胍扫描的放射学评估；SDHD和试剂盒基因突变的基因分析。副神经节瘤综合征1例合并副神经节瘤、双侧嗜铬细胞瘤和胃肠道间质瘤并伴有体细胞Asp579del Kit突变的患者。患者在充分准备了α和β受体阻滞剂后，接受了所有肿瘤的手术切除。手术后血压恢复正常。患者定期接受生化和放射学检查，预计他的随访将持续终生。
Background. A 33-year-old man was referred to a specialist center with a left neck mass and hypertension. The patient underwent surgery, which confirmed a malignant neck paraganglioma with metastasis to a cervical lymph node. He had no family history of carotid body tumors or pheochromocytoma.Investigations. Measurements of plasma free metanephrines and chromogranin A; radiographic evaluations with CT, F-18-fluorodeoxyglucose PET and I-123-labeled metaiodobenzylguanidine scan; gene analysis for mutations in the SDHD and the KIT gene.Diagnosis. Paraganglioma syndrome type 1 in a patient with a paraganglioma, bilateral pheochromocytomas and a gastrointestinal stromal tumor with a somatic Asp579del KIT mutation.Management. The patient underwent surgical excision of all tumors after adequate preparation with alpha and beta blockers. Blood pressure normalized after surgery. The patient is examined regularly with biochemical and radiographic studies, and his follow-up is expected to last throughout life.