TY - JOUR
T1 - Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome
AU - Ayala-Ramirez, Montserrat
AU - Callender, Glenda G.
AU - Kupferman, Michael E.
AU - Rich, Thereasa A.
AU - Chuang, Hubert H.
AU - Trent, Jonathan
AU - Perrier, Nancy D.
AU - Goodarzi, Mahmoud
AU - Jimenez, Camilo
PY - 2010/2
Y1 - 2010/2
N2 - 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, 18F-fluorodeoxyglucose PET and 123I-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.
AB - 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, 18F-fluorodeoxyglucose PET and 123I-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.
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U2 - 10.1038/nrendo.2009.250
DO - 10.1038/nrendo.2009.250
M3 - Article
C2 - 20098451
AN - SCOPUS:76149098827
SN - 1759-5029
VL - 6
SP - 110
EP - 115
JO - Nature Reviews Endocrinology
JF - Nature Reviews Endocrinology
IS - 2
ER -