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Clear cell papillary renal cell carcinoma: Molecular profile and virtual karyotype

Human Pathology Aug 06, 2019

Morlote DM, et al. - Since little molecular information is available on clear cell papillary renal cell carcinoma (CCP-RCC, a newly identified tumor that shares morphologic characteristics of both clear cell renal cell carcinoma and papillary renal cell carcinoma but acts in a more indolent fashion), therefore, researchers intended to ascertain more about the molecular profile and virtual karyotype of CCP-RCC. From formalin-fixed, paraffin-embedded tissue blocks of 22 individuals of CCP-RCC, DNA was extricated, at the University of Alabama at Birmingham. In all cases, targeted next-generation sequencing and single-nucleotide polymorphism array were conducted. Thirty somatic variants across 63.3% of cases was discovered by next-generation sequencing analysis. Seventeen variants (56.7%) were prognosticated to be harmful or likely/probably damaging. In 22.7% of cases, single-nucleotide polymorphism array analysis detected copy number anomalies and/or loss of heterozygosity. In conclusion, the genetic features of a group of CCP-RCCs cases were assessed which turned out to be genetically distinct from one another. However, some cases were genetically comparable to clear cell renal cell carcinoma.
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