Table 1.

Kindreds and individuals affected by gastrointestinal stromal tumors associated with germline KIT mutations

Reference	Type of report (family vs. single individual)	Mutant exon (mutation)	GIST			Other manifestations
			Sitea	Histologyb	Mc	ICCHd	Altered skin pigmentation	Mast cell disorders	GI motility disorders	Diverticula	Others
Nishida et al. [7]	family	11 (p.V560del)	SIe	S, Mf			Perineal hyperpigmentation
O’Brien et al. [8]; Hirota et al. [9]; Chen et al. [10]	family	11 (p.W557R)	SI	S, M	yes	yes
Isozaki et al. [11]; Handra-Luca et al. [12]; Bachet et al. [13]	family	13 (p.K642E)	ST, SI	S, M	yes	yes	Lentigines on trunk, limbs, palms and soles		Dysphagia
Maeyama et al. [14]	family	11 (p.V559A)	ST, SI	S			Hyperpigmentation and nevi
Beghini et al. [15]	family	11 (p.V559A)	ST, SI	S, E, M	yes	yes	Hyperpigmentation of face, trunk, extremities and mucous membranes	Urticaria pigmentosa
Hirota et al. [16]	family	17 (p.D820Y)	ST, SI	Mf		yes			Dysphagia
Robson et al. [17]	family	11 (p.W557R)	ST, SI	S, M		yes	Hyperpigmentation of hands, knees, perineum and circumoral areas		Dysphagia	Small bowel
Antonescu et al. [18]	individual	11 (p.W557R)	ST, SI	S		yes
Carballo et al. [19]	family	11 (p.L756_P577InsQL)	ST, SI	S		yes	Hyperpigmentation of neck, hands, feet and circumoral area
Li et al. [20]	family	11 (p.V559A)	ST, SI	Sg		yes	Hyperpigmentation, lentigines, café-au-lait maculesh, nevi (all these lesions variably involved neck, perioral area, scrotal region/pelvic/genital/inguinal area, axillae, buttocks); vitiligo	Urticaria pigmentosa			1 Melanoma, 1 angioleiomyoma of ankle skin
Tarn et al. [21]	family	11 (p.D579del)	ST	M	yes
Hartmann et al. [22]	family	8 (p.D419del)	SI	M		yes		Mastocytosis	Dysphagia
Kim et al. [23]	individual	11 (p.V559A)	SI	S, M		yes
O’Riain et al. [24]	family	17 (p.D820Y)	ST, SI, ICV	Mf, S	yes	yes			Dysphagia	Small bowel
Miettinen et al. [25]; Lasota and Miettinen [26]	family	11 (p.D579del)	SI, A, C	NS
Kang et al. [27]	family	11 (p.V560G)	SI	NS		yes	Hyperpigmentation
Kang et al. [27]	individual	11 (p.V559A)	SI	NS		yes
Graham et al. [28]	individual	13 (p.K642E)	E, ST, SI, R	NS		yes	Vitiligo
Kleinbaum et al. [29]	family	11 (c.D579del)	ST, SI, C	S	yes	yes	Hyperpigmentation, nevi
Woźniak et al. [30]	family	11 (p.Q575_577delinsH)	R	S, M	yes				Constipation
Thalheimer et al. [31]	family	17 (p. N822Y)	ST, SI, A, R	S	yes	yes
Campbell et al. [32]	family	11 (NSi)	ST, SI, C	NS			Dysplastic nevi, lentigines, darkening of labia minora pudendi
Veiga et al. [33]	family	17 (p.D820Y)	ST, SI, R	NS	yes						1 endometrial stromal sarcoma
Kuroda et al. [34]	family	11 (p. V559A)	ST, SI, C	S		yes	Hyperpigmentation of external genitalia and axilla
Vilain et al. [35]	family	13 (p. K642E)	ST, SI	Sf		yes	Hyperpigmentation (multiple nevi in the axillae and trunk and spontaneously resolving childhood facial hyperpigmentation) and hypopigmentation consistent with WSj type 2		Dysphagia	Oesophagus
Nakai et al. [36]	family	11 (p. Y553K)	ST, SI, C	NS		yes
Wadt et al. [37]	family	13 (p.K642E)	ST, SI	NS	yes	yes					1 breast cancer
Speight et al. [38]	individual	9 (p.K509I)	SI	S				Mastocytosis
Bachet et al. [13]	family	13 (p.K642E)	ST, SI, C, R	S	yes	yes	Lentigines and nevi				Multiple cutaneous angiolypomas in one individual
Bachet et al. [13]	family	13 (p.K642E)	ST, SI	S		yes
Neuhann et al. [39]	family	11 (p.L576P)	ST, SI, C	S		yes	Multiple lentigines on face, neck, chest, back, axillae, legs		Achalasia, dysphagia
Yamanoi et al. [40]	individual	13 (p.K642T)	ST, SI	S		yes			Dyshpagia
Adela Avila et al. [41]	family	11 (p.V559A)	SI	S			Diffuse melanosis, generalized lentiginosis, palmar crease hyperpigmentation		Dysphagia
Jones et al. [42]	family	11 (p.D579del)	ST, SI	S
Jones et al. [42]	family	11 (p.D579del)	ST, SI	S
Bamba et al. [43]	family	11 (p.V560del)	ST, SI	S
Forde et al. [44]	family	11 (p.D579del)	ST, SI	NS			Skin hyperpigmentation		Dysphagia

^a E esophagus, ST stomach, SI small intestine, ICV ileocecal valve, A appendix, C colon, R rectum, NS not specified

^b S spindle cell, E epithelioid, M mixed spindle cell and epithelioid, NS not specified

^c M, GIST metastases

^d Diffuse Intersitial cell of Cajal hyperplasia

^e inferred from the mention of intestinal obstruction

^f inferred from published microphotographs

^g not specified in the referred paper; inferred from the diagnosis of “neurofibromatosis” previously made in several of the family members

^h café-au-lait macules were reported in one of the individuals originally thought to have neurofibromatosis; this could have influenced the term used

ⁱ NS, not specified

^j Waardenburg syndrome