Malignant paraganglioma and somatotropinoma in a patient with germline SDHB mutation-genetic and clinical features

Endocrine
Ana SaavedraDavide Carvalho

Abstract

Pituitary adenomas and paragangliomas/pheocromocytomas are rare endocrine tumours, which can be sporadic or familial. During many years their coexistence in the same individual was considered a coincidental finding. However, an association between these two entities was recently demonstrated, with the possible involvement of SDHx genes. We describe a 57-year-old female patient, who was under surveillance since 1997 for a malignant paraganglioma with vertebral bone metastasis, and harboured a germline frameshift mutation in exon 6 of SDHB gene [c.587-591DelC]. Seventeen years later, she was diagnosed with acromegaly and underwent transesphenoidal endoscopic resection of a somatotropinoma. Three months after surgery she started treatment with lanreotide for residual disease. Despite initial good response, she developed resistance to first generation of somatostatin analogues and treatment had to be switched to pegvisomant. In the immunohistochemical staining, the pituitary adenoma was positive for SDHA expression, while SDHB showed an heterogeneous staining pattern, with areas markedly positive and others with positive and negative cells. Our findings provide useful data for understanding the link between paragangliomas/pheocromo...Continue Reading

References

Dec 16, 2011·The Journal of Clinical Endocrinology and Metabolism·Paraskevi XekoukiConstantine A Stratakis
Nov 14, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lucie EvenepoelWinand N M Dinjens
Feb 20, 2015·The Journal of Clinical Endocrinology and Metabolism·Paraskevi XekoukiConstantine A Stratakis
Jun 27, 2015·Endocrine-related Cancer·Samuel M O'TooleMárta Korbonits
Aug 15, 2015·Endocrine-related Cancer·Diana E BennRoderick J Clifton-Bligh

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