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Fam Cancer. 2015 Dec;14(4):615-9. doi: 10.1007/s10689-015-9821-0. Epub 2015 Jul 11.

Metastatic sympathetic paraganglioma in a patient with loss of the SDHC gene.

Author information

1
Myriad Genetic Laboratories, Salt Lake City, UT, USA.
2
Clinical Cancer Genetics Department, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA.
3
Department of Endocrinology, Hospital San Vicente Fundacion, Universidad de Antioquia, Medellín, Colombia.
4
Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street Unit 1461, Houston, TX, 77030, USA.
5
Department of Radiology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA.
6
Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street Unit 1461, Houston, TX, 77030, USA. cjimenez@mdanderson.org.

Abstract

Mutation of the genes encoding the succinate dehydrogenase (SDH) subunits A, B, C, or D, or the SDHAF2 protein, cause the SDHx-hereditary paraganglioma syndromes. Hereditary susceptibility to metastatic sympathetic pheochromocytomas and paragangliomas is most commonly due to germline mutations in the SDHB gene. Individuals with SDHD mutations occasionally present with metastatic disease, while conversely malignant paragangliomas are rarely observed in SDHC carriers. A 43 year-old woman presented with an abdominal paraganglioma metastatic to the skeleton and multiple lymph nodes. The tumor produced excessive amounts of noradrenaline causing hypertension and symptoms of catecholamine excess. The patient underwent surgical resection of the primary tumor and lymph node metastases. Loss of SDHB protein expression in the primary tumor was demonstrated by immunohistochemistry. Germline sequencing and deletion testing revealed a large allelic deletion of exons 1-6 in SDHC, and no mutations or deletions were detected in SDHB or SDHD. The patient's mother died because of kidney cancer. Hereditary pheochromocytomas and paragangliomas may be associated with a deletion of the SDHC gene. These patients may present with malignant sympathetic paragangliomas.

KEYWORDS:

Malignant paraganglioma; Paraganglioma; Pheochromocytoma; SDHC; SHDB

PMID:
26162468
DOI:
10.1007/s10689-015-9821-0
[Indexed for MEDLINE]

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