Table 1 Kindreds and individuals affected by gastrointestinal stromal tumors associated with germline KIT mutations

Nishida et al. [7]

family

11 (p.V560del)

SI^e

S, M^f

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

M^f

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

S^g

yes

Hyperpigmentation, lentigines, café-au-lait macules^h, 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

M^f, 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

S^f

yes

Hyperpigmentation (multiple nevi in the axillae and trunk and spontaneously resolving childhood facial hyperpigmentation) and hypopigmentation consistent with WS^j 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