Amagai Y, Tanaka A, Matsuda A, Jung K, Oida K, Nishikawa S, Jang H, Matsuda H
Cooperative Major in Advanced Health Science, Graduate School of Bio-Applications and System Engineering, Tokyo University of Agriculture and Technology, Tokyo, Japan.
J Small Anim Pract. 2013 Jul;54(7):377-80. doi: 10.1111/jsap.12069. Epub 2013 Apr 25.
Mast cell tumours are one of the most common neoplasms in dogs. Mutations in the proto-oncogene c-kit, especially internal tandem duplications of exon 11, are considered to play a crucial role in mast cell tumourigenesis. In this report, two cases that suffered from multiple mast cell tumours containing an internal tandem duplication in the primary lesion but not in the secondary lesions are described. This finding indicates the existence of heterogenous c-kit gene mutations in each site of multiple mast cell tumours. Additionally, these results raise the possibility that the contribution of internal tandem duplications in the malignant transformation of mast cells is quite limited. It is proposed that, for clinicians, genetic analysis of several regions of multiple mast cell tumours is necessary for predicting prognosis and tumour response to KIT inhibitors.
肥大细胞瘤是犬类最常见的肿瘤之一。原癌基因c-kit的突变，尤其是外显子11的内部串联重复，被认为在肥大细胞瘤的发生中起关键作用。在本报告中，描述了两例患有多发性肥大细胞瘤的病例，其原发性病变中存在内部串联重复，但继发性病变中不存在。这一发现表明，多发性肥大细胞瘤的每个部位都存在异质性的c-kit基因突变。此外，这些结果增加了内部串联重复在肥大细胞恶性转化中的作用相当有限的可能性。建议临床医生对多发性肥大细胞瘤的多个区域进行基因分析，以预测预后和肿瘤对KIT抑制剂的反应。
