From: Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis
Exon | Mutation | GIST | Mastocytosis | Pigmentation | References |
---|---|---|---|---|---|
8 | D419del | Yes | Yes | Normal | Hartmann et al. [54] |
9 | S451C | No | Yes | Hyperpigmentation | Wang et al. [55] |
9 | K509I | No | Yes | Normal | Zhang et al. [56] |
9 | K509I | Yes | Yes | Normal | Speight et al. [57] |
9 | K509I | No | Yes | Normal | de Melo Campos et al. [58] |
9 | K509I | No | Yes | Normal | Chan et al. [59] |
10 | A533D | No | Yes | Normal | Tang et al. [12] |
10 | M541L | No | Yes | Normal | Foster et al. [60] |
11 | Y553C | Yes | No | Normal | Nakai et al. [61] |
11 | W557R | Yes | No | Some patients have hyperpigmentation | Robson et al. [62] |
11 | W557R | Yes | No | Normal | Hirota et al. [63] |
11 | V559A | Yes | No | Hyperpigmentation | Maeyama et al. [11] |
11 | V559A | Yes | One patient has urticaria pigmentosa | Hyperpigmented spots | Beghini et al. [64] |
11 | V559A | Yes | No | Hyperpigmentation | Kuroda et al. [65] |
11 | V559A | Yes | One patient has urticaria pigmentosa | Lentigines, malignant melanoma | Li et al. [66] |
11 | V559A | Yes | No | Normal | Kim et al. [67] |
11 | V559-560del | Yes | No | Hyperpigmentation | Nishida et al. [68] |
11 | V560del | Yes | No | Normal | Bamba et al. [69] |
11 | V560G | Yes | No | Normal | Kang et al. [70] |
11 | Q575_P577delinsH | Yes | No | Normal | Wozniak et al. [71] |
11 | L576P | Yes | No | Hyperpigmentation | Neuhann et al. [72] |
11 | L576_P577insGlnLeu | Yes | No | Hyperpigmentation | Carballo et al. [73] |
11 | D579del | Yes | No | Normal | Jones et al. [74] |
11 | D579del | Yes | No | Normal | Tarn et al. [75] |
11 | D579del | Yes | No | Normal | Lasota et al. [76] |
11 | D579del | Yes | No | One patient has Hyperpigmentation | Kleinbaum et al. [77] |
13 | R634Â W | No | Yes | Normal | Pollard et al. [78] |
13 | K642T | Yes | No | Normal | Yamanoi et al. [79] |
13 | K642E | Yes | No | One patient has nevi, lentigine | Bachet et al. [80] |
13 | K642E | Yes | No | Normal | Isozaki et al. [81] |
13 | K642E | Yes | No | Normal | Graham et al. [82] |
13 | K642E | Yes | No | Some patients have hyperpigmentation; some patients have paradoxical cutaneous depigmentation | Vilain et al. [83] |
17 | D820Y | Yes | No | Normal | Hirota et al. [84] |
17 | D820Y | Yes | No | Normal | Veiga et al. [85] |
17 | D820Y | Yes | No | Normal | O’Riain et al. [86] |
17 | N822Y | Yes | No | Normal | Thalheimer et al. [87] |
17 | N822I | No | Yes | Normal | Wasag et al. [88] |