Mazzone Eugenio, Aresu Luca
Department of Veterinary Sciences, University of Turin, 10095 Grugliasco, Italy.
Animals (Basel). 2024 Aug 27;14(17):2484. doi: 10.3390/ani14172484.
Microsatellite instability (MSI) is a crucial feature in cancer biology, yet its prevalence and significance in canine cancers remain largely unexplored. This study conducted a comprehensive analysis of MSI across 10 distinct canine cancer histotypes using whole-exome sequencing data from 692 tumor-normal sample pairs. MSI was detected in 64% of tumors, with prevalence varying significantly among cancer types. B-cell lymphomas exhibited the highest MSI burden, contrasting with human studies. A novel "MSI-burden" score was developed, correlating significantly with tumor mutational burden. MSI-high (MSI-H) tumors showed elevated somatic mutation counts compared to MSI-low and microsatellite stable tumors. The study identified 3632 recurrent MSI-affected genomic regions across cancer types. Notably, seven of the ten cancer types exhibited MSI-H tumors, with prevalence ranging from 1.5% in melanomas to 37% in B-cell lymphomas. These findings highlight the potential importance of MSI in canine cancer biology and suggest opportunities for targeted therapies, particularly immunotherapies. The high prevalence of MSI in canine cancers, especially in B-cell lymphomas, warrants further investigation into its mechanistic role and potential as a biomarker for prognosis and treatment response.
微卫星不稳定性(MSI)是癌症生物学中的一个关键特征,但其在犬类癌症中的发生率和意义在很大程度上仍未得到探索。本研究使用来自692对肿瘤-正常样本的全外显子测序数据,对10种不同的犬类癌症组织学类型中的MSI进行了全面分析。在64%的肿瘤中检测到MSI,其发生率在不同癌症类型之间存在显著差异。B细胞淋巴瘤表现出最高的MSI负担,这与人类研究结果形成对比。开发了一种新的“MSI负担”评分,与肿瘤突变负担显著相关。与MSI低和微卫星稳定的肿瘤相比,MSI高(MSI-H)的肿瘤显示出更高的体细胞突变计数。该研究确定了3632个跨癌症类型的复发性MSI影响的基因组区域。值得注意的是,十种癌症类型中有七种表现出MSI-H肿瘤,其发生率从黑色素瘤中的1.5%到B细胞淋巴瘤中的37%不等。这些发现突出了MSI在犬类癌症生物学中的潜在重要性,并提示了靶向治疗的机会,特别是免疫治疗。MSI在犬类癌症中,尤其是在B细胞淋巴瘤中的高发生率,值得进一步研究其机制作用以及作为预后和治疗反应生物标志物的潜力。