Familial cervical paragangliomas with lymph node metastasis expressing somatostatin receptor type 2A

We report a case of familial, bilateral cervical paragangliomas (PGs) with lymph node metastasis. Patient I-1 is a 56-year-old man with a right carotid body tumor and a left vagal PG. Patient II-1 is a 29-year-old woman and the daughter of Patient I-1; she had a left carotid body tumor with regional lymph node metastasis. Histology of all the tumors showed the typical pattern of PGs, i.e., a zellballen pattern composed of chief cells positive for chromogranin A, and sustentacular cells positive for S100 protein. The Ki-67 labeling index was 1% to 3% in these PGs in both the primary and the metastatic tumors. Immunohistochemical analysis showed expression of somatostatin receptor (sstr) type 2A, but was negative for sstr type 5. Genomic mutation in succinate dehydrogenase type D was confirmed in both patients. Here, we present a case of familial PGs, and discuss the cases with special reference to pathologic diagnosis, genetics, and treatment.