多态腺癌的综合分子表征,Cribriform亚型:识别新型融合和融合伙伴
Elan Hahn1, Bin Xu2, Nora Katabi2
1Department of Pathology and Laboratory Medicine, Sinai Health System, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada.
概括
下一代测序确定了多态腺癌 (PAC) 中的新型基因融合,这是一种常见的唾液腺癌. 这项研究扩大了对PAC分子变化的理解,揭示了已知的突变之外的各种融合伙伴.
科学领域:
- 在瘤学瘤学.
- 分子病理学分子病理学
- 遗传学 遗传学 是一个
背景情况:
- 多形腺癌 (PAC) 是一种常见的,通常是低度的唾液腺癌.
- 传统的PACs通常含有PRKD1 p.E710D突变,而cribriform亚型与PRKD基因融合有关.
- 之前的核聚变鉴定严重依赖于光现场杂交 (FISH),往往使核聚变合作伙伴无法识别.
研究的目的:
- 用下一代测序 (NGS) 综合描述多态腺癌中的基因融合.
- 确定新的融合合作伙伴,并评估它们在PAC中的频率.
- 为了研究PRKD基因变异的光谱在cribriform和混合/中间PAC亚型.
主要方法:
- 分析了54个PAC案例,对cribriform和混合/中间类型进行了丰富分析.
- 下一代测序 (NGS) 对51个成功测序的样本进行了测序.
- 分析的重点是确定涉及PRKD1,PRKD2或PRKD3.3的基因融合.
主要成果:
- 涉及PRKD1,PRKD2或PRKD3的基因融合在51个被测序的PAC病例中的28个中被检测到.
- 十个病例表现出特有的PRKD1 p.E710D突变.
- 鉴定出了一系列不同的融合合作伙伴,包括13个新合作伙伴,其中ARID1A和ARID1B是最常见的.
结论:
- NGS揭示了PAC中PRKD基因融合的广泛范围,与其他唾液腺恶性瘤不同.
- 识别了许多新的和反复出现的融合伙伴,强调了PAC的遗传异质性.
- 在具有挑战性的PAC病例中,建议采用全面的测序策略进行分子确认.
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