Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report

Figure 1 Pedigree of the family.

Figure 2 Clinical features of pigmented lesions of patient 1 (III: 1). A: Hyperpigmentation with well-defined margin was observed on the face; B: Around the mouth and on back of the lower limbs; C: Before initiation of imatinib therapy there was apparent pigmentation on the hand; D and E: After 7 mo of imatinib therapy, the pigmentations diminished, and the skin tone became lighter.

Figure 3 Morphologic evidences for the role of the interstitial cells of Cajal as the cells of origin of gastrointestinal stromal tumor. A: Transition from the non-neoplastic area to the tumor indicating hyperplasia of the interstitial cells of Cajal (ICCs) (original magnification: 25 ×); B: In non-neoplastic area, hyperplasia of ICCs can be seen (original magnification: 400 ×). C and D: The tumor was composed of proliferation of spindle cells (original magnification: C: 100 ×, D: 200 ×).