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单核酸多态化 (SNP) 染色体微阵列作为粘膜管状和状细胞癌的诊断工具:一个验证研究

Kaitlyn J Nielson¹, Ross Rowsey¹, Surendra Dasari²

¹Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.

Human pathology

|April 14, 2024

概括

粘性管状和状细胞癌 (MTSCC) 可能与乳头性细胞癌 (PRCC) 相似. 染色体拷贝数变化 (CNA) 可以帮助诊断MTSCC,特别是在具有挑战性的情况下.

科学领域:

泌尿器科泌尿器科泌尿器科泌尿器科
在瘤学瘤学.
遗传学是一个遗传学.

背景情况:

粘性管状和状细胞癌 (MTSCC) 与乳头性细胞癌 (PRCC) 有共同特征.
在这些脏瘤中观察到经常发生的拷贝数变化 (CNA).
将MTSCC与其他细胞癌 (RCC) 亚型区分开来可能是具有挑战性的,原因是形态异质性.

研究的目的:

为了评估染色体微阵列用于诊断MTSCC.
为了识别具有不同形态的MTSCC病例的特征性CNA.
评估CNA在区分MTSCC与其他RCC中的实用性.

主要方法:

用染色体微阵列分析了16例具有MTSCC特征的细胞癌 (RCC) 病例.
评估了瘤形态,等级,阶段和特定的CNA.
案例与已确定的RCC亚型标准进行了比较.

主要成果:

16例中有12例 (75%) 的病例显示CNA诊断为MTSCC.
确定了特定的CNA模式,包括染色体1,4,6,8,9,13,14,15和22的损失.
一个病例显示PRCC诊断CNA (增长7,17,损失Y).
一些病例表现出非特异性CNA或与攻击性行为相关的特征 (例如CDKN2A/B损失,1q增长).

结论:

染色体CNA检测是诊断MTSCC的一个有价值的工具.
在具有主要或上皮组成部分的具有挑战性的情况下,CNA分析有助于解决问题.
这种方法可以提高异质MTSCC和高度瘤的诊断准确度.

关键词:

粘性管状和状细胞癌.在SNP中,SNP是SNP.单个核酸的多态性.

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