NDLI: Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.

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Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.

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Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Winship, Ingrid Benn, Diana E. McKelvie, Penny Dwight, Trisha Gill, Anthony J. Robinson, Bruce G. Clifton-Bligh, Roderick J. Mann, Kirsty
Description	Country affiliation: Australia Author Affiliation: Dwight T ( Cancer Genetics, Hormones and Cancer Group, Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, New South Wales 2065, Australia. trisha.dwight@sydney.edu.au)
Abstract	CONTEXT: Reports of the coexistence of pituitary adenomas and pheochromocytoma/paraganglioma are uncommon. Recently germline mutations in 2 of the genes encoding succinate dehydrogenase, SDHC and SDHD, were associated with pituitary tumors. OBJECTIVE: Our aim was to determine whether the development of a pituitary adenoma was associated with SDHA mutation. PATIENTS: A 46-year-old female presented with carotid body paraganglioma (proband). Subsequently the proband's son was diagnosed with a nonfunctioning pituitary macroadenoma at age 30 years. RESULTS: An immunohistochemical analysis of the resected paraganglioma and pituitary adenoma revealed the loss of succinate dehydrogenase subunit B and succinate dehydrogenase subunit A (SDHA) expression in both tumors, with the preservation of staining in nonneoplastic tissue. Mutation analysis showed a novel SDHA mutation (c.1873C>T, p.His625Tyr) in the germline of the proband as well as in the proband's son. In the paraganglioma of the proband, in addition to the germline mutation, a somatic mutation was observed (c.1865G>A, p.Trp622*). In the pituitary adenoma of the proband's son, loss of SDHA immunoreactivity was paradoxically accompanied by loss of the mutant allele. CONCLUSIONS: This is the first report of a pituitary adenoma arising in the setting of germline SDHA mutation. The loss of SDHA protein expression in both the paraganglioma (proband) and pituitary adenoma (proband's son) argues strongly for a causative role of SDHA mutation. This report further strengthens the link between pituitary neoplasia and germline SDH mutation. Although pituitary adenomas appear rare among patients carrying SDH subunit mutations, they may have been underrecognized due to the low penetrance of disease and lack of systematic surveillance.
ISSN	0021972X
e-ISSN	19457197
Journal	The Journal of Clinical Endocrinology & Metabolism
Issue Number	6
Volume Number	98
Language	English
Publisher	Oxford University Press
Publisher Date	2013-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Adenoma Genetics Adrenal Gland Neoplasms Electron Transport Complex Ii Germ-line Mutation Pheochromocytoma Pituitary Neoplasms Immunohistochemistry Research Support, Non-u.s. Gov't Discipline Endocrinology Discipline Metabolism
Content Type	Text
Resource Type	Article
Subject	Biochemistry (medical) Biochemistry Clinical Biochemistry Endocrinology Endocrinology, Diabetes and Metabolism

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