Table Info

Table 3.

Various hereditary syndromes associated with PPGL

Syndromes	Gene involved	Clinical features
VHL syndrome	VHL	Hemangioblastomas of the CNS, clear cell renal cell carcinoma, endolymphatic sac tumor, pancreatic tumors, epididymal cystadenomas, broad ligament cystadenoma, and PCCs
Multiple endocrine neoplasia type 2 (MEN2)	RET	Medullary thyroid carcinoma, PCCs, parathyroid adenomas/hyperplasia
NF1	NF1	Neurofibromas, optic pathway gliomas, pigmented skin lesions (cafe-au-lait spots, freckling), Lisch nodules, PCCs, and other malignancies
Hereditary PGL/PCC syndrome (HPPS) or familial PGL (FPGL) syndrome	SDHD-FPGL1; SDHAF2-FPGL2; SDHC-FPGL3; SDHB-FPGL4; SDHA-FPGL5	Head and neck PGLs (HNPGLs), thoracic/abdominal/pelvic PGLs, PCCs, renal cell carcinoma, and gastrointestinal stromal tumors
Carney’s triad	c-kit (CD117) mutations	Gastrointestinal stromal tumors, pulmonary chondromas, PGLs
Pacak-Zhuang syndrome	EPAS1	PGLs, somatostatinomas, polycythemia
Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome	FH	Cutaneous and uterine leiomyomas, renal cell carcinoma, uterine leiomyosarcoma

Declarations

Author contributions

MSJ and NM: Resources, Writing—original draft, Writing—review & editing. CFJ and JMP: Conceptualization, Supervision, Writing—review & editing. All authors read and approved the submitted version.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical approval

Not applicable.

Consent to participate

Not applicable.

Consent to publication

Not applicable.

Availability of data and materials

Not applicable.

Funding

Not applicable.

Copyright

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