ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2017) 50 EP075 | DOI: 10.1530/endoabs.50.EP075

A rare case of SDHB mutation in a male individual with pituitary adenoma, and paraganglioma/phaeochromocytoma syndrome

Valentinos Kounnis1,2, Saeed ElMuhtadi ElMuhtadi3, Aparna Pal1, Mike Tadman1 & Bahram Jafar-Mohammadi1


1Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK; 2Department of Oncology, University of Oxford, Ox, UK; 3Department of Endocrinology and Diabetes, Royal Berkshire Hospital, Reading, UK.


Introduction: Herein we provide clinical, biochemical, histological and radiological evidence of a rare case of a male patient who was diagnosed with pituitary macroadenoma (prolactinoma), phaeochromocytoma and a lung typical-carcinoid tumour on a background of SDH gene mutation encoding the succinate dehydrogenase enzyme.

Presentation of case: A 42 year old male individual, was initially diagnosed with a pituitary macroadenoma (prolactinoma) after complaining of persisting severe headaches, for which cabergoline treatment had been initiated.

His positive paternal history of phaeochromocytoma, led to further genetic screening which revealed a c.600>A, p.(Trp200*) mutation in the SDHB gene and further biochemical and imaging studies confirmed the presence of a phaeochromocytoma, which was surgically excised.

Following a random hospital visit, a plain chest radiograph raised concerns over a right lower lobe mass which ultimately led to advanced imaging studies with CT and PET, confirming the presence of a neoplastic lesion with no evidence of lymphadenopathy of other evidence of metastatic disease.

A subsequent lobectomy and Histopathological analysis (positive for chromogranin and synaptophysin) confirmed the diagnosis of a typical carcinoid tumour (stage pT1b N0 Mx).

Discussion: The role of mutations in the genes encoding the succinate dehydrogenase (SDH) subunits, in tumorigenesis has been described previously and especially the predisposition to the development of the hereditary paraganglioma/phaeochromocytoma syndrome (HPGL/PCC).

To our knowledge this may be the first reported case of a lung neuroendocrine tumour, phaeochromocytoma and pituitary macroadenoma on the background of a mutation in the SDHB gene.

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