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

Montserrat Ayala-Ramirez, Glenda G. Callender, Michael E. Kupferman, Thereasa A. Rich, Hubert H. Chuang, Jonathan Trent, Nancy D. Perrier, Mahmoud Goodarzi, Camilo Jimenez

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)110-115
Number of pages6
JournalNature Reviews Endocrinology
Volume6
Issue number2
DOIs
StatePublished - Feb 1 2010
Externally publishedYes

Fingerprint

Paraganglioma
Pheochromocytoma
Neck
Metanephrine
Carotid Body Tumor
Chromogranin A
Mutation
Gastrointestinal Stromal Tumors
Fluorodeoxyglucose F18
Genes
Lymph Nodes
Neoplasm Metastasis
Blood Pressure
Hypertension
Carney-Stratakis Syndrome
Neoplasms

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Ayala-Ramirez, M., Callender, G. G., Kupferman, M. E., Rich, T. A., Chuang, H. H., Trent, J., ... Jimenez, C. (2010). Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. Nature Reviews Endocrinology, 6(2), 110-115. https://doi.org/10.1038/nrendo.2009.250

Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. / Ayala-Ramirez, Montserrat; Callender, Glenda G.; Kupferman, Michael E.; Rich, Thereasa A.; Chuang, Hubert H.; Trent, Jonathan; Perrier, Nancy D.; Goodarzi, Mahmoud; Jimenez, Camilo.

In: Nature Reviews Endocrinology, Vol. 6, No. 2, 01.02.2010, p. 110-115.

Research output: Contribution to journalArticle

Ayala-Ramirez, M, Callender, GG, Kupferman, ME, Rich, TA, Chuang, HH, Trent, J, Perrier, ND, Goodarzi, M & Jimenez, C 2010, 'Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome', Nature Reviews Endocrinology, vol. 6, no. 2, pp. 110-115. https://doi.org/10.1038/nrendo.2009.250
Ayala-Ramirez M, Callender GG, Kupferman ME, Rich TA, Chuang HH, Trent J et al. Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. Nature Reviews Endocrinology. 2010 Feb 1;6(2):110-115. https://doi.org/10.1038/nrendo.2009.250
Ayala-Ramirez, Montserrat ; Callender, Glenda G. ; Kupferman, Michael E. ; Rich, Thereasa A. ; Chuang, Hubert H. ; Trent, Jonathan ; Perrier, Nancy D. ; Goodarzi, Mahmoud ; Jimenez, Camilo. / Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. In: Nature Reviews Endocrinology. 2010 ; Vol. 6, No. 2. pp. 110-115.
@article{48bb907a9e4d43ae83cafaf79addc6f2,
title = "Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome",
abstract = "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.",
author = "Montserrat Ayala-Ramirez and Callender, {Glenda G.} and Kupferman, {Michael E.} and Rich, {Thereasa A.} and Chuang, {Hubert H.} and Jonathan Trent and Perrier, {Nancy D.} and Mahmoud Goodarzi and Camilo Jimenez",
year = "2010",
month = "2",
day = "1",
doi = "10.1038/nrendo.2009.250",
language = "English",
volume = "6",
pages = "110--115",
journal = "Nature Reviews Endocrinology",
issn = "1759-5029",
publisher = "Nature Publishing Group",
number = "2",

}

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 - 2010/2/1

Y1 - 2010/2/1

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.

UR - http://www.scopus.com/inward/record.url?scp=76149098827&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=76149098827&partnerID=8YFLogxK

U2 - 10.1038/nrendo.2009.250

DO - 10.1038/nrendo.2009.250

M3 - Article

C2 - 20098451

AN - SCOPUS:76149098827

VL - 6

SP - 110

EP - 115

JO - Nature Reviews Endocrinology

JF - Nature Reviews Endocrinology

SN - 1759-5029

IS - 2

ER -