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

Nature Reviews Endocrinology volume 6, pages 110–115 (2010)Cite this article

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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.

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Figure 1: Diagnostic 18F-FDG-PET-CT scans of the case patient.
Figure 2: Diagnostic SPECT scans of the case patient.
Figure 3: Histopathological evaluation of neoplasias of the case patient.

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Acknowledgements

Written consent for publication was obtained from the patient. M. Ayala-Ramirez and G. G. Callender contributed equally to this manuscript.

Désirée Lie, University of California, Orange, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the MedscapeCME-accredited continuing medical education activity associated with this article.

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Authors and Affiliations

  1. Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 1461, Houston, 77030, TX, USA

    Montserrat Ayala-Ramirez & Camilo Jimenez

  2. Department of Surgical Oncology, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 1461, Houston, 77030, TX, USA

    Glenda G. Callender, Thereasa A. Rich & Nancy D. Perrier

  3. Department of Head and Neck Surgery, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 1461, Houston, 77030, TX, USA

    Michael E. Kupferman

  4. Department of Nuclear Medicine, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 1461, Houston, 77030, TX, USA

    Hubert H. Chuang

  5. Department of Sarcoma Medical Oncology, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 1461, Houston, 77030, TX, USA

    Jonathan Trent

  6. Department of Pathology, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 1461, Houston, 77030, TX, USA

    Mahmoud Goodarzi

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  1. Montserrat Ayala-Ramirez
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Correspondence to Camilo Jimenez.

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The authors declare no competing financial interests.

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Ayala-Ramirez, M., Callender, G., Kupferman, M. et al. Paraganglioma syndrome type 1 in a patient with Carney–Stratakis syndrome. Nat Rev Endocrinol 6, 110–115 (2010). https://doi.org/10.1038/nrendo.2009.250

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