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J Clin Endocrinol Metab. 2019 Jun 13. pii: jc.2019-00202. doi: 10.1210/jc.2019-00202. [Epub ahead of print]

Biochemically silent sympathetic Paraganglioma, Pheochromocytoma or Metastatic Disease in SDHD mutation carriers.

Author information

1
Department of Endocrinology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
2
Department of Otolaryngology/Head and Neck Surgery, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
3
Division of Endocrinology, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
4
Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
5
Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
6
Department of Internal Medicine, OLVG Hospital, Amsterdam, The Netherlands.
7
Department of Surgery and Cardiothoracic Surgery, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
8
Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
9
Department of Radiology and Nuclear Medicine, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
10
Department of Pathology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
11
Department of Medical Oncology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
12
Department of Otolaryngology/Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands.
13
Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, the Netherlands.

Abstract

CONTEXT:

Current guidelines do not consistently recommend imaging beyond the head and neck region in SDHD mutation carriers as long as catecholamine metabolite levels are within the reference range.

CASE SERIES:

We report a series of ten patients carrying pathogenic variants in the SDHD gene from five tertiary referral centers for paraganglioma (PGL) in the Netherlands, who presented with a sympathetic PGL (sPGL), pheochromocytoma (PHEO) or metastases outside the head and neck region in the absence of excessive catecholamine production: Two of six patients with a biochemically silent sPGL/PHEO developed metastatic disease. In addition, four patients were found to have metastases outside the head and neck region from head and neck PGL. The average interval between the initial diagnosis and discovery of the silent lesions was 10 (0-32) years.

CONCLUSIONS:

The absence of excessive catecholamine production does not exclude the presence of manifestations of SDHD outside the head and neck region. These findings suggest that a more extensive imaging strategy in SDHD mutation carriers may be warranted for detection of biochemically silent lesions.

PMID:
31194241
DOI:
10.1210/jc.2019-00202

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