Germline SDHA Mutation Detected by Next-Generation Sequencing in a Young Index Patient With Large Paraganglioma

摘要

Due to right-sided abdominal pain, a 20-year-old fe-male underwent computed tomography revealing alarge(7cm)tumorlocatedcraniallyoftherightkidney(Fig-ure 1, A–C), and either pheochromocytoma (PCC) or adre-nocortical cancer was suspected. Hormone levels were nor-mal, and chromogranin A was 33 (normal ? 6) nmol/L.