MON-918 Familial Paraganglioma: Familiar Case Report

摘要

Introduction: Pheochromocytomas and Paragangliomas (PGL) are rare tumors originating from chromaffin cells. They may be sporadic or associated with familial inherited genetic syndromes around 50-80%. There are several PGL syndromes, the most common being PGL 1 (SDHD mutations), PGL 2 (SDHAF), PGL 3 (SDHC), PGL 4 (SDHB), PGL 5 (SDHA), PGL 6 (SLC25A11) and PGL 7 (DLST). SDHB mutations generate a higher probability of malignant PGL, as well as risk of renal, GIST and pituitary neoplasms. We report the case of a patient with a positive family history for the autosomal dominant SDHB mutation.Clinical cases: FZR, male, 19 years old, history of headache, sweating, palpitations, and sudden onset tremors associated with hypertensive peaks. Physical examination: Blood Pressure 140x90mmHg lying down, 110x70 standing up. Performed examinations, of which altered, showed: Plasma metanephrines: 82 pg/mL (RV <65), Plasma normetanephrines: 1.488pg/mL (VR <196), Urinary Catecholamines: 1.784mcg/24h (RV: 80-500), Abdomen Resonance showed an expansive, solid, heterogeneous abdomen mass in posterior contact with the left psoas muscle, medial with the aorta, and lateral with jejunum loops, measuring 7x3.5 cm. MIBG scintigraphy: abnormal uptake in left kidney. Family history: uncle diagnosed with cervical paraganglioma with cervical lymph node metastasis, gastric GIST and PCR genetic sequencing identifying mutation in SDHB (Q.137 G > T in exon 2). Asymptomatic second cousin with positive genetic analysis for the same mutation and another deceased first cousin diagnosed with pheochromocytoma with bone metastasis. He underwent tumor resection that identified retroperitoneal paraganglioma with 10% KI67, Protein S-100, Chromogranin-A and Synaptophysin positive. Carried out PCR genetic analysis that identified the same Q.137 G > T mutation in exon 2 of the SDHB gene in heterozygosis.Twenty-six relatives were called for mutation research, of which 5 positive for the SDHB mutation, until now, including the patient’s mother and twin brother, both already investigating related diseases.We await new family members and, subsequently, the result of the mutation analysis to continue the clinical and laboratory follow-up of this family.Conclusion: Although rare, this condition should be remembered as a differential diagnosis of diseases with such clinical symptoms and, once characterized, investigate possible associations with genetic syndromes.