Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome

被引：14

作者：

Ayala-Ramirez, Montserrat ^{[1
]}

Callender, Glenda G. ^{[2
]}

Kupferman, Michael E. ^{[3
]}

Rich, Thereasa A. ^{[2
]}

Chuang, Hubert H. ^{[4
]}

Trent, Jonathan ^{[5
]}

Perrier, Nancy D. ^{[2
]}

Goodarzi, Mahmoud ^{[6
]}

Jimenez, Camilo ^{[1
]}

机构：

[1] Univ Texas MD Anderson Canc Ctr, Dept Endocrine Neoplasia & Hormonal Disorders, Houston, TX 77030 USA

[2] Univ Texas MD Anderson Canc Ctr, Dept Surg Oncol, Houston, TX 77030 USA

[3] Univ Texas MD Anderson Canc Ctr, Dept Head & Neck Surg, Houston, TX 77030 USA

[4] Univ Texas MD Anderson Canc Ctr, Dept Nucl Med, Houston, TX 77030 USA

[5] Univ Texas MD Anderson Canc Ctr, Dept Sarcoma Med Oncol, Houston, TX 77030 USA

[6] Univ Texas MD Anderson Canc Ctr, Dept Pathol, Houston, TX 77030 USA

来源：

NATURE REVIEWS ENDOCRINOLOGY | 2010年 / 6卷 / 02期

关键词：

POSITRON-EMISSION-TOMOGRAPHY; SUCCINATE-DEHYDROGENASE; HEREDITARY PARAGANGLIOMA; MALIGNANT PARAGANGLIOMAS; MATERNAL TRANSMISSION; SDHD GENE; PHEOCHROMOCYTOMA; MUTATION; PET; THERAPY;

D O I：

10.1038/nrendo.2009.250

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：110 / 115

页数：6

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