Paraganglioma, germline nonsense mutation in succinate dehydrogenase B gene (R27X) and response to sunitinib

Valentina Elezovic; Milan Petakov; Sanja Ognjanovic; Djuro Macut; Tatjana Isailovic; Bojana Ilic; Bojana Popovic; Ivana Bozic Antic; Tamara Bogavac; Dusan Ilic; Svetozar Damjanovic

doi:10.1530/endoabs.32.P274

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Endocrine Abstracts (2013) 32 P274 | DOI: 10.1530/endoabs.32.P274

ECE2013 Poster Presentations Clinical case reports - Thyroid / Others (62 abstracts)

Paraganglioma, germline nonsense mutation in succinate dehydrogenase B gene (R27X) and response to sunitinib

Valentina Elezovic , Milan Petakov , Sanja Ognjanovic , Djuro Macut , Tatjana Isailovic , Bojana Ilic , Bojana Popovic , Ivana Bozic Antic , Tamara Bogavac , Dusan Ilic & Svetozar Damjanovic

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Clinic of Endocrinology, Diabetes and Metabolic Disease, Belgrade, Serbia.

A 36-years-old male with mild hypertension was diagnosed with pseudocystic tumor (67 mm) in pancreatic region and liver metastasis in April 2010. One month later, the extirpation of retroperitoneal mass and metastasis was performed in local medical centre. Pathohistological diagnosis was metastatic paraganglioma (Ki67, 3.5%). In June 2010, he was transferred to our Institution, and (131) I-metaiodobenzylguanidine (MIBG) scintigraphy was negative. However ((18) F) fluorodeoxyglucose positron emission tomographic (18-FDG-PET) CT scanning showed on area (SVII) of uptake within the liver. In March 2011, multiple focal liver lesions were detected by MSCT scan, which were negative on In-111 octreoscan and MIBG scintigraphy. Urinary adrenalin, noradrenalin and dopamine were normal, while chromogranin A level was elevated. Germline nonsense mutation was identified in exon 2 (R27X) of succinate dehydrogenase B (SDHB) gene. Patient’s father and younger brother were carriers of the same mutation.

At the same time period, we tested patient’s, 2-years younger brother who carried the same germ-line mutation. He suffered from hypertension since he was fourteen. Retroperitoneal mass (9.5 cm) was detected at the age of seventeen by echography. In January 2008, extraction of retroperitoneal tumor was performed in local medical centre, and during the surgical procedure the rise in blood pressure was recorded. Histopathology showed malignant paraganglioma. He came to our clinic in May 2010 without any symptoms. Abdominal MSCT revealed liver metastases. Although MIBG scintigraphy and In-111 octreoscan did not show uptake, an 18-FDG-PET/CT showed multiple areas of uptake in liver. Urinary adrenalin, noradrenalin and CgA were normal and urinary dopamine was slightly elevated.

Both brothers continued treatment with sunitinib and partial remission was registered after 3 months.

This nonsense germline mutation in SDHB gene (R27X) is associated with the similar phenotype and the similar response after sunitinib administration in both patients.