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澳大利亚犬肥大细胞瘤中C-KIT原癌基因第11外显子内部串联重复的患病率。

Prevalence of exon 11 internal tandem duplications in the C-KIT proto-oncogene in Australian canine mast cell tumours.

作者信息

Tamlin V S, Kessell A E, Mccoy R J, Dobson E C, Smith T S, Hebart M, Brown L, Mitrovic D, Peaston A E

机构信息

School of Animal and Veterinary Sciences (SAVS), University of Adelaide, Roseworthy 5371, South Australia, Australia.

Gribbles Veterinary Pathology, Glenside, SA, Australia.

出版信息

Aust Vet J. 2017 Oct;95(10):386-391. doi: 10.1111/avj.12636.

Abstract

OBJECTIVE

To measure the prevalence of internal tandem duplications (ITDs) in exon 11 of the proto-oncogene C-KIT in a sample of Australian cutaneous canine mast cell tumours (MCTs) drawn from general practice and to evaluate relationships between tumour mutation status and prognostic factors including signalment, tumour histological grade, tumour anatomical location and tumour size.

METHODS

C-KIT exon 11 ITDs were detected by PCR in DNA extracted from formalin-fixed, paraffin-embedded canine MCTs sourced from three veterinary diagnostic laboratories in Adelaide and Melbourne. Tumours were graded according to two different systems (Patnaik and Kiupel systems) by board-certified anatomical pathologists blinded to the PCR results. Relationships between tumour mutation status and prognostic factors were evaluated using a generalised binary logistic regression analysis.

RESULTS

ITDs were identified in 13 of 74 cutaneous canine MCT samples, giving an overall prevalence of 17.6% (95% confidence interval: 8.9-26.2%). ITDs were detected in 10 of 18 Patnaik grade III MCTs (55.6%) and 11 of 22 Kiupel high-grade MCTs (50%). Wald chi-square analysis revealed that detection of tumour ITDs was significantly associated with both Patnaik's and Kiupel's histologic grading systems (each: P < 0.001). The presence of the ITDs in MCTs was not associated with signalment, tumour anatomical location or tumour size.

CONCLUSION

The prevalence of C-KIT exon 11 ITDs in Australian canine MCTs is similar to the prevalence in overseas canine populations (overall prevalence in Australia approximately 18%). ITDs were more frequently identified in higher grade MCTs.

摘要

目的

在取自普通诊所的澳大利亚皮肤型犬肥大细胞瘤(MCT)样本中,检测原癌基因C-KIT第11外显子内部串联重复(ITD)的发生率,并评估肿瘤突变状态与包括品种、肿瘤组织学分级、肿瘤解剖位置和肿瘤大小等预后因素之间的关系。

方法

通过聚合酶链反应(PCR)检测从阿德莱德和墨尔本三个兽医诊断实验室获取的福尔马林固定、石蜡包埋的犬MCT中提取的DNA中的C-KIT第11外显子ITD。由对PCR结果不知情的委员会认证解剖病理学家根据两种不同系统(帕特奈克和基佩尔系统)对肿瘤进行分级。使用广义二元逻辑回归分析评估肿瘤突变状态与预后因素之间的关系。

结果

在74个皮肤型犬MCT样本中的13个中鉴定出ITD,总体发生率为17.6%(95%置信区间:8.9 - 26.2%)。在18个帕特奈克III级MCT中的10个(55.6%)和22个基佩尔高级别MCT中的11个(50%)中检测到ITD。Wald卡方分析显示,肿瘤ITD的检测与帕特奈克和基佩尔组织学分级系统均显著相关(均为:P < 0.001)。MCT中ITD的存在与品种、肿瘤解剖位置或肿瘤大小无关。

结论

澳大利亚犬MCT中C-KIT第11外显子ITD的发生率与海外犬类群体中的发生率相似(澳大利亚总体发生率约为18%)。在高级别MCT中更频繁地鉴定出ITD。

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