. Author manuscript; available in PMC: 2021 Apr 1.

Published in final edited form as: Surg Oncol Clin N Am. 2020 Apr;29(2):165–183. doi: 10.1016/j.soc.2019.10.002

Table 3.

PNET-associated genetic disorders

Syndrome	Gene/ inheritance	Incidence of PNETs	Associated features	Differences from incidental
Multiple Endocrine Neoplasia Type 1	MEN1 / AD	~60%	Hyperparathyroidism 95%; pituitary adenoma 40%; duodenal NET, adrenal adenoma, lung & thymus NET, lipoma, angiofibroma	Multifocal microadenomas
Von Hippel-Lindau	VHL / AD	~15%	Cranial and retinal hemangioblastoma 70%; renal cell carcinoma 90%; pheochromocytoma 15%; endolymphatic cell tumor 10%.
Neurofibromatosis Type 1	NF1 /AD	<10%	Neurofibroma, optic glioma, café au lait spot, Lisch nodule	Somatostatinomas
Tuberous Sclerosis	TSC1 / AD	Rare	Multiorgan hamartoma, epilepsy, angiofibroma, mental retardation
Glucagon cell hyperplasia and neoplasia	GCGR / AR	Rare		Nesidioblastosis with α cell hyperplasia; High plasma glucagon without diarrhea, rash or diabetes ³⁹

AD: autosomal dominant; GCGR: glucagon receptor gene; MEN1: multiple endocrine neoplasia type 1; NF1: neurofibromatosis type 1; TSC1: tuberous sclerosis complex subunit 1; VHL: Von Hippel-Lindau.