Mutations in the juxtamembrane domain of c-KIT are associated with higher grade mast cell tumors in dogs
Mutations in the juxtamembrane domain of c-KIT are associated with higher grade mast cell tumors in dogs
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DOI：
10.1354/vp.39-5-529
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发表时间：
2002-09-01
影响因子：
2.4
通讯作者：
Yuzbasiyan-Gurkan, V
中科院分区：
文献类型：
--
作者：
Zemke, D;Yamini, B;Yuzbasiyan-Gurkan, V
肥大细胞瘤是狗皮肤上最常见的肿瘤之一，比其他种类的肥大细胞瘤更具侵袭性。一些品种的肥大细胞瘤的发病率明显高于其他品种，似乎有一些遗传易感性。最近，在犬肥大细胞肿瘤组织和细胞系中发现了原癌基因c-KIT近膜结构域的突变。在先前的研究中，利用少量病例，没有发现突变的存在与犬的品种或肿瘤的等级之间的关联。为了探索这种可能性，我们进行了一项更大样本集的扩展研究。采用聚合酶链反应从88个精选品种的石蜡包埋肥大细胞瘤的基因组DNA制备中扩增c-KIT的近膜结构域。在12个肿瘤中发现了由重复和缺失组成的突变。突变的存在与更高级别的肿瘤之间存在显著的关联，但在品种和级别之间或品种与突变的存在之间没有显著的关联。
Mast cell tumors are among the most commonly seen tumors of the skin in dogs and are more highly aggressive than mast cell tumors of other species. Some breeds display a markedly higher incidence of mast cell tumor development than others and appear to have some genetic predisposition. Recently, mutations have been found in canine mast cell tumor tissues and cell lines within the juxtamembrane domain of the protooncogene c-KIT In previous studies utilizing a small number of cases, no association between the presence of a mutation and the breed of dog or grade of the tumor could be identified. An expanded study with a larger sample set was performed to explore this possibility. The juxtamembrane domain of c-KIT was amplified using the polymerase chain reaction from genomic DNA preparations of 88 paraffin-embedded mast cell tumors from selected breeds. Mutations, consisting of duplications and deletions, were found in 12 of the tumors. A significant association was found between the presence of a mutation and a higher grade of tumor but not between breed and grade or between breed and the presence of a mutation.