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

From: Syndromic gastrointestinal stromal tumors

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   
  1. a E esophagus, ST stomach, SI small intestine, ICV ileocecal valve, A appendix, C colon, R rectum, NS not specified
  2. b S spindle cell, E epithelioid, M mixed spindle cell and epithelioid, NS not specified
  3. c M, GIST metastases
  4. d Diffuse Intersitial cell of Cajal hyperplasia
  5. e inferred from the mention of intestinal obstruction
  6. f inferred from published microphotographs
  7. g not specified in the referred paper; inferred from the diagnosis of “neurofibromatosis” previously made in several of the family members
  8. h café-au-lait macules were reported in one of the individuals originally thought to have neurofibromatosis; this could have influenced the term used
  9. i NS, not specified
  10. j Waardenburg syndrome