Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications

Table 1 Germline Mutations Associated with GIST Predisposition and Associated Clinical Features

Gene (Exon)	Mutation	General Clinical Features	Reference
*C-KIT* (11)	V559del	Hyperpigmentation, urticaria pigmentosa, dysphagia	Nishida 1998[9]
	CAACTTdup		Carballo 2005[11]
	V559A		Beghini 2001[30]
	W557R		Maeyama 2001[31]
			Robson 2004[26]
*C-KIT* (17)	D820Y	Dysphagia but no hyperpigmentation	Hirota 2002[32]
*C-KIT* (13)	K642E	No hyperpigmentation and no urticaria pigmentosa	Isozaki 2000[33]
			Graham 2007[34]
*PDGFRA* *	D846Y	Large hands	Chompret 2004[35]
	Y555C	Lipomas and small intestine fibrous tumors	de Raedt 2006[36]
	V561D		Pasini 2007[37]
NF1**	Many various mutations in NF1 gene (>300 identified)	Café au lait spots, dermal neurofibromas, axillary/inguinal freckling, ocular hamartomas	Relles 2010[38]
*SDHB, SDHC, and SDHD* *******	SDHB IVS1 + 1 G → T	Paraganglioma and pheochromocytoma	Carney 2002[39]
	SDHB c.423 + 1 G → C	(Carney-Stratakis Syndrome)	McWhinney 2007[40]
	SDHB c.45_46insCC
	SDHC c.43 + 1 C → T
	SDHC IVS5 + 1 G → A
	SDHD c.57delG

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