| Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. | |
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MedLine Citation:
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PMID: 20098451 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Montserrat Ayala-Ramirez; Glenda G Callender; Michael E Kupferman; Thereasa A Rich; Hubert H Chuang; Jonathan Trent; Nancy D Perrier; Mahmoud Goodarzi; Camilo Jimenez |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Nature reviews. Endocrinology Volume: 6 ISSN: 1759-5037 ISO Abbreviation: Nat Rev Endocrinol Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-01-25 Completed Date: 2010-03-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101500078 Medline TA: Nat Rev Endocrinol Country: England |
Other Details:
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Languages: eng Pagination: 110-5 Citation Subset: IM |
Affiliation:
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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. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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3-Iodobenzylguanidine
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diagnostic use Adrenal Gland Neoplasms / diagnosis, genetics, surgery Adult Carney Complex Chromogranin A / blood Fluorodeoxyglucose F18 / diagnostic use Gastrointestinal Stromal Tumors / diagnosis*, genetics, surgery Gene Transfer Techniques Humans Hypertension / diagnosis* Lymphatic Metastasis Male Metanephrine / blood Mutation Neck Paraganglioma / diagnosis*, genetics, surgery Pheochromocytoma / diagnosis*, genetics, surgery Positron-Emission Tomography Proto-Oncogene Proteins c-kit / genetics Succinate Dehydrogenase / genetics Syndrome Tomography, Emission-Computed, Single-Photon Tomography, X-Ray Computed |
| Chemical | |
Reg. No./Substance:
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0/Chromogranin A; 0/SDHD protein, human; 5001-33-2/Metanephrine; 63503-12-8/Fluorodeoxyglucose F18; 77679-27-7/3-Iodobenzylguanidine; EC 1.3.99.1/Succinate Dehydrogenase; EC 2.7.10.1/Proto-Oncogene Proteins c-kit |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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