Carney-Stratakis 综合征患者的 1 型副神经节瘤综合征。
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.
机构信息
Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 1461, Houston, TX 77030, USA.
出版信息
Nat Rev Endocrinol. 2010 Feb;6(2):110-5. doi: 10.1038/nrendo.2009.250.
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, (18)F-fluorodeoxyglucose PET and (123)I-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.
背景
一名 33 岁男性因左颈部肿块和高血压被转诊至专科中心。患者接受了手术，证实为恶性颈部副神经节瘤，并转移至颈部淋巴结。他没有颈动脉体瘤或嗜铬细胞瘤的家族史。
检查
血浆游离甲氧基肾上腺素和嗜铬粒蛋白 A 的测量；CT、（18）F-氟脱氧葡萄糖 PET 和（123）I-标记间碘苄胍扫描的影像学评估；SDHD 和 KIT 基因突变的基因分析。
诊断
副神经节瘤综合征 1 型，患者患有副神经节瘤、双侧嗜铬细胞瘤和胃肠道间质瘤，具有体细胞 Asp579del KIT 突变。
治疗
在充分准备使用α和β受体阻滞剂后，患者接受了所有肿瘤的手术切除。手术后血压恢复正常。定期对患者进行生化和影像学检查，预计他的随访将持续一生。
Zotero 插件