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首页> 外文期刊>Modern Pathology >Detection of the ETV6-NTRK3 Chimeric RNA of Infantile Fibrosarcoma|[sol]|Cellular Congenital Mesoblastic Nephroma in Paraffin-Embedded Tissue: Application to Challenging Pediatric Renal Stromal Tumors
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Detection of the ETV6-NTRK3 Chimeric RNA of Infantile Fibrosarcoma|[sol]|Cellular Congenital Mesoblastic Nephroma in Paraffin-Embedded Tissue: Application to Challenging Pediatric Renal Stromal Tumors

机译：石蜡包埋组织中小儿纤维肉瘤| [sol] |细胞先天性中胚层肾癌ETV6-NTRK3嵌合RNA的检测：在挑战小儿肾基质间质瘤中的应用

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We report the development of a reverse transcriptase polymerase chain reaction assay that reliably detects the ETV6-NTRK3 chimeric RNA characteristic of infantile fibrosarcoma and the cellular variant of congenital mesoblastic nephroma (CMN) in formalin-fixed, paraffin-embedded tissue blocks. The 188 base pair polymerase chain reaction fusion product was detected in 11 of 12 cases of cellular CMN from which a larger sized control RNA band could be amplified, and even in 7 of 8 cases in which the control band was not detectable. A variety of other tumors that are in the histologic differential diagnosis of cellular CMN yielded negative results, including four classic CMNs, four rhabdoid tumors of the kidney, and four clear cell sarcomas of the kidney, confirming the assay's specificity. We further demonstrate the assay's utility by illustrating two cases of molecularly confirmed cellular CMN that mimicked rhabdoid tumor and clear cell sarcoma of the kidney. In contrast to previous reports, five mixed CMNs that had both classic and cellular areas all lacked the ETV6-NTRK3 fusion transcript. These results suggest that cases morphologically defined as mixed CMN may represent a mixed group of genetically distinct entities.
机译：我们报告了逆转录酶聚合酶链反应测定法的发展，该测定法可靠地检测了婴幼儿纤维肉瘤的ETV6-NTRK3嵌合RNA特征和福尔马林固定，石蜡包埋的组织块中的先天性中胚层性肾瘤（CMN）的细胞变异。在12例细胞CMN中可以检测到188个碱基对的聚合酶链反应融合产物，从中可以扩增出更大尺寸的对照RNA条带，甚至在8例中有7例中检测不到对照带。细胞CMN的组织学鉴别诊断中的其他多种肿瘤均产生阴性结果，包括四个经典的CMN，四个肾脏的横纹肌瘤和四个肾脏的透明细胞肉瘤，证实了该测定方法的特异性。我们通过举例说明两个分子证实的细胞CMN（模仿类瘤瘤和肾脏的透明细胞肉瘤）来进一步证明该测定法的实用性。与以前的报告相比，具有经典和蜂窝区域的五个混合CMN都缺少ETV6-NTRK3融合转录本。这些结果表明，形态上定义为混合CMN的病例可能代表了遗传上不同的实体的混合群。

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