Clear cell renal cell carcinoma (ccRCC) and papillary renal cell carcinoma (pRCC) are the 2 most common RCCs. However, some RCCs can have both clear cell and papillary features, including clear cell papillary RCC (ccpRCC). They can be a diagnostic challenge in daily practice. Accurate diagnosis of these tumors is important for both patient prognosis and appropriate treatment. Fourteen RCCs with papillary architecture, clear cytoplasm and low Fuhrman grade were analyzed by SNP-based chromosome microarray (CMA). Seven cases had pathologic features of ccpRCC, and all had normal genomic profiles except one that had copy neutral loss of heterozygosity (cnLOH) of chromosome 3 and loss of one copy of the X chromosome. The remaining 7 cases also had papillae and clear cytoplasm. Two of these cases showed losses of chromosome 3 which are typically found in ccRCC. One had a gain of chromosome 7, which is commonly seen in pRCC. The remaining 4 had no alterations of chromosome 3 or 7. However, 3 of these 4 had monosomy 8, which are consistent with RCC with monosomy 8. The remaining case had no copy number alterations. This study shows that low-grade RCC with papillae and clear cell phenotype represents a heterogeneous group, including ccpRCC, ccRCC, pRCC, and RCC with monosomy 8. CMA analysis can be useful for the differential diagnosis of these neoplasms.

中文翻译：

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染色体微阵列分析在具有透明细胞和乳头状特征的低级别肾细胞癌鉴别诊断中的应用

透明细胞肾细胞癌 (ccRCC) 和乳头状肾细胞癌 (pRCC) 是两种最常见的 RCC。然而，一些 RCC 可以同时具有透明细胞和乳头状特征，包括透明细胞乳头状 RCC (ccpRCC)。它们可能是日常实践中的诊断挑战。准确诊断这些肿瘤对于患者的预后和适当的治疗都很重要。通过基于 SNP 的染色体微阵列 (CMA) 分析了 14 个具有乳头状结构、细胞质透明和 Fuhrman 级别低的 RCC。7例具有ccpRCC的病理特征，除1例3号染色体拷贝中性杂合性缺失（cnLOH）和1个X染色体拷贝缺失外，其余均具有正常基因组谱。其余7例也有乳头和透明细胞质。其中两个病例显示 ccRCC 中常见的 3 号染色体丢失。一个人获得了 7 号染色体，这在 pRCC 中很常见。剩下的4个没有3号染色体或7号染色体的改变。然而，这4个中有3个有8号单体，这与具有8号单体的RCC一致。剩下的病例没有拷贝数改变。该研究表明，具有乳头和透明细胞表型的低级别 RCC 代表了一个异质组，包括 ccpRCC、ccRCC、pRCC 和具有单体 8 的 RCC。CMA 分析可用于这些肿瘤的鉴别诊断。