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


METHODS
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.


METHODS
Paraganglioma syndrome type 1 in a patient with a paraganglioma, bilateral pheochromocytomas and a gastrointestinal stromal tumor with a somatic Asp579del KIT mutation.


RESULTS
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.
Ayala-Ramirez
Montserrat
M
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.
Callender
Glenda G
GG
Kupferman
Michael E
ME
Rich
Thereasa A
TA
Chuang
Hubert H
HH
Trent
Jonathan
J
Perrier
Nancy D
ND
Goodarzi
Mahmoud
M
Jimenez
Camilo
C
D019797:3-Iodobenzylguanidine; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D000328:Adult; D056733:Carney Complex; D053379:Chromogranin A / Q000097:blood; D019788:Fluorodeoxyglucose F18; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D018014:Gene Transfer Techniques; D006801:Humans; D006973:Hypertension / Q000175:diagnosis*; D008207:Lymphatic Metastasis; D008297:Male; D008676:Metanephrine / Q000097:blood; D009154:Mutation; D009333:Neck; D010235:Paraganglioma / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D049268:Positron-Emission Tomography; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000235:genetics; D013577:Syndrome; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed
D053379:Chromogranin A; C491545:SDHD protein, human; D019788:Fluorodeoxyglucose F18; D019797:3-Iodobenzylguanidine; D008676:Metanephrine; D013385:Succinate Dehydrogenase; D019009:Proto-Oncogene Proteins c-kit