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

Nature Reviews. Endocrinology
Montserrat Ayala-RamirezCamilo Jimenez

Abstract

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

May 16, 2013·Current Oncology Reports·Camilo JimenezEric Baudin
May 29, 2012·Endocrine Pathology·Carmen Tenorio JiménezBarbara M McGowan
Feb 15, 2011·Familial Cancer·Jeena VargheseCamilo Jimenez
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Apr 17, 2013·Clinical Endocrinology·L T van HulsteijnE P M Corssmit
Jul 21, 2016·Hereditary Cancer in Clinical Practice·Riccardo Ricci
Dec 31, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Daniela GasparottoRoberta Maestro
Mar 8, 2018·International Journal of Molecular Sciences·Valentina IndioMaria Aabbondanza Pantaleo
Aug 5, 2017·BMC Cancer·Martin G BelinskyMargaret von Mehren
Jun 8, 2021·AACE Clinical Case Reports·Robyn L Houlden, Cassandra L A Hawco

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