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BRAF 突变分析:对8365份诊断样本的回顾性评估,特别关注犬种(2018 - 2024年)

BRAF Mutation Analysis: A Retrospective Evaluation of 8365 Diagnostic Samples with a Special View on Canine Breeds (2018-2024).

作者信息

Appenzeller Marielle, Kehl Alexandra, Törner Katrin, Jensen Katharina Charlotte, Klopfleisch Robert, Aupperle-Lellbach Heike

机构信息

LABOKLIN GmbH & Co. KG, 97688 Bad Kissingen, Germany.

School of Medicine, Institute of Pathology, Technical University of Munich, 80333 München, Germany.

出版信息

Vet Sci. 2025 Aug 2;12(8):729. doi: 10.3390/vetsci12080729.

Abstract

The V595E mutation analysis in canine urothelial carcinomas (UCs) has found its way into routine diagnostics, but no data analysis has been published until now. The present study aimed to estimate the distribution of age, sex, and breed in 8365 canine diagnostic samples submitted for mutation analysis during 2018-2024. The specimens included 8215 urine samples, 17 cytological, and 133 histopathological specimens, and were submitted in cases of suspected UC, to rule out UC, or for screening purposes. All samples were tested for the V595E mutation using droplet digital PCR (ddPCR). The data were statistically analysed and logistic regression models (Odds Ratio (OR)) were calculated. Compared to samples from mixed-breed dogs, the specimens from Scottish Terriers (OR: 4.21), Shetland Sheepdogs (OR: 2.65), Beagles (OR: 2.33), Fox Terriers (OR: 1.92), Staffordshire Bull Terriers (OR: 1.86), Magyar Vizslas (OR: 1.77), Chihuahuas (OR: 1.70), and West Highland White Terriers (OR: 1.43) had a significantly increased probability of the presence of mutation indicating UC. The youngest -positive dogs of these predisposed breeds ( = 4) were 5 years old. In conclusion, screening tests in predisposed breeds may be recommended from the age of 5 years.

摘要

犬尿路上皮癌(UC)的V595E突变分析已应用于常规诊断,但至今尚未发表数据分析。本研究旨在评估2018年至2024年期间提交进行突变分析的8365份犬诊断样本的年龄、性别和品种分布。样本包括8215份尿液样本、17份细胞学样本和133份组织病理学样本,提交这些样本的情况包括疑似UC、排除UC或用于筛查目的。所有样本均使用液滴数字PCR(ddPCR)检测V595E突变。对数据进行了统计分析,并计算了逻辑回归模型(优势比(OR))。与混血犬的样本相比,来自苏格兰梗犬(OR:4.21)、喜乐蒂牧羊犬(OR:2.65)、比格犬(OR:2.33)、猎狐梗犬(OR:1.92)、斯塔福郡斗牛梗犬(OR:1.86)、匈牙利维兹拉犬(OR:1.77)、吉娃娃犬(OR:1.70)和西部高地白梗犬(OR:1.43)的样本中存在表明UC的突变的概率显著增加。这些易患品种中最年轻的阳性犬(=4)为5岁。总之,建议从5岁开始对易患品种进行筛查测试。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0e7d/12390318/28d1962260b0/vetsci-12-00729-g001.jpg

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