Montanucci Ludovica, Guidolin Elena, Lopparelli Rosa Maria, Mucignat Greta, Pauletto Marianna, Giantin Mery, Dacasto Mauro
Department of Neurology, McGovern Medical School, UTHealth-University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Department of Comparative Biomedicine and Food Science, University of Padua, Viale dell'Università 16, I-35020 Legnaro, Italy.
Vet Sci. 2024 Nov 25;11(12):593. doi: 10.3390/vetsci11120593.
Canine mast cell tumors (MCTs) are common skin neoplasms with varying biological behaviors. The proto-oncogene plays a key role in the development of these tumors, and internal tandem duplications on exon 11 are usually associated with more aggressive behavior, increased local recurrence, and decreased survival time. However, apart from exons 8-11 and 17, there is limited understanding of the overall mutational landscape in canine MCTs. This work aims to analyze the entire coding sequence (21 exons) in a cohort of 62 MCTs, which included 38 cutaneous and 24 subcutaneous tumors, and potentially identify new variants. In addition to confirming previously reported activating mutations in exons 8, 9, and 11, we identified new variants in exons 2, 3, 5, 16, and the 3' untranslated region (UTR). Notably, these last variants include an amino acid change (Asp/His) in exon 16. Additionally, we confirmed a differential prevalence of variants in cutaneous and subcutaneous MCTs. These findings enhance our understanding of the proto-oncogene coding sequence and provide valuable information for future confirmatory studies.
犬肥大细胞瘤(MCTs)是具有不同生物学行为的常见皮肤肿瘤。原癌基因在这些肿瘤的发生发展中起关键作用,外显子11上的内部串联重复通常与更具侵袭性的行为、局部复发增加和生存时间缩短相关。然而,除了外显子8 - 11和17外,对犬MCTs的整体突变格局了解有限。这项工作旨在分析62个MCTs队列中的整个编码序列(21个外显子),其中包括38个皮肤肿瘤和24个皮下肿瘤,并潜在地识别新的变异。除了确认先前报道的外显子8、9和11中的激活突变外,我们还在外显子2、3、5、16和3'非翻译区(UTR)中识别到了新的变异。值得注意的是,这些最后的变异包括外显子16中的一个氨基酸变化(Asp/His)。此外,我们证实了皮肤和皮下MCTs中变异的患病率存在差异。这些发现增强了我们对原癌基因编码序列的理解,并为未来的验证性研究提供了有价值的信息。