Table 1.

PCC/PGL-related syndromes

Clinical syndrome	Subtype	Main manifestations	Mutation gene	Genetic nature
MEN 1		PHPT, gastrinomas, benign insulinomas, anterior pituitary tumors, and PCC	MEN 1	Tumor suppressor
MEN 2	MEN 2A	MTC, PCC, hyperthyroidism, and amyloidosis of the skin	RET	Proto oncogene
	MEN 2B	MTC, PCC, hyperthyroidism, multiple mucosal neuromas, and Marfan-like syndrome	RET	Proto oncogene
	FMTC	HMTC	RET	Proto oncogene
VHL	Type 1A	Hemangioblastoma in retina and central nervous system, multiple abdominal neoplasms and cysts, ccRCC, and no PCC	VHL	Tumor suppressor
	Type 1B	Hemangioblastoma in retina and central nervous system, multiple abdominal neoplasms and cysts, and no ccRCC or PCC	VHL	Tumor suppressor
	Type 2A	PCC, hemangioblastoma in retina or central nervous system, and no ccRCC	VHL	Tumor suppressor
	Type 2B	PCC, hemangioblastoma in retina or central nervous system, ccRCC, endocrine neoplasia, and pancreatic cyst	VHL	Tumor suppressor
	Type 2C	Only PCC	VHL	Tumor suppressor
NF-1		Caft-au-lait macules, neurofibromas, freckling in the axillary or inguinal region, optic glioma, lisch nodules, osseous lesion, and PCC	NF-1	Tumor suppressor
FPGL	FPGL-1	Multiple head and neck PGLs	SDHD	Tumor suppressor
	FPGL-2	Head and neck PGLs	SDHAF2	Tumor suppressor
	FPGL-3	Solitary head and neck PGLs	SDHC	Tumor suppressor
	FPGL-4	The abdomen, pelvis, and mediastinum PGLs	SDHB	Tumor suppressor
	FPGL-5	Leigh’s syndrome	SDHA	Tumor suppressor
TMEM127		PCC and rare renal cancers	TMEM127	Tumor suppressor
MAX		PCC/PGL	MAX	Tumor suppressor
FH		Cutaneous and uterine leiomyomas, type 2 papillary renal carcinoma, and rare PCC/PGL	FH	Tumor suppressor

PHPT, primary hyperparathyroidism; PCC, pheochromocytoma; MTC, medullary thyroid carcinoma; HMTC, hereditary medullary thyroid carcinoma; ccRCC, clear-cell renal cell carcinoma; PGL, paraganglioma.