2021
DOI: 10.1038/s41379-021-00858-y
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Diagnostic utility of one-stop fusion gene panel to detect TFE3/TFEB gene rearrangement and amplification in renal cell carcinomas

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Cited by 20 publications
(24 citation statements)
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“…In general, TFE3 and TFEB-rearranged renal cell carcinomas ought to be considered in the differential diagnosis, especially in young patients, every time pathologists have to deal with a renal tumor showing unusual microscopic findings [ 13 , 29 ]. To support the diagnosis, TFE3/TFEB gene translocation should be demonstrated by FISH break-apart assay or the gene fusion identified by RNA sequencing [ 43 ]. Nevertheless, these techniques are not available in all laboratories and a thorough evaluation of their immunophenotype might be worth it for correctly identifying them.…”
Section: Discussionmentioning
confidence: 99%
“…In general, TFE3 and TFEB-rearranged renal cell carcinomas ought to be considered in the differential diagnosis, especially in young patients, every time pathologists have to deal with a renal tumor showing unusual microscopic findings [ 13 , 29 ]. To support the diagnosis, TFE3/TFEB gene translocation should be demonstrated by FISH break-apart assay or the gene fusion identified by RNA sequencing [ 43 ]. Nevertheless, these techniques are not available in all laboratories and a thorough evaluation of their immunophenotype might be worth it for correctly identifying them.…”
Section: Discussionmentioning
confidence: 99%
“…13,84,85 The highly customizable targeted RNA-seq technology was adopted and validated on hundreds of renal tumors producing invaluable information of novel fusion partner genes, their frequency, detailed analysis of fusion structures, mapping of breakpoints, exons and functional domains, consequently facilitating clinicopathologic associations and explaining heterogeneity of TFE3-tRCC subtypes. 13,22,26,29,32,35,[37][38][39][40]43,44,47,54,57,60 RNA-seq could be utilized to verify FISH results or to replace FISH in view of substantial advantages and despite some drawbacks related to RNA degradation in old or decalcified tissues, high cost and technical complexity (Table 3). Another important benefit of RNA-seq as a discovery platform was shown by identification of tRCC cancer-specific biomarkers like TRIM63.…”
Section: Rna-sequencingmentioning
confidence: 99%
“…Comprehensive sarcoma fusion panel was performed following previously described procedure 4 . Briefly, total nucleic acid was extracted from sections from formalin‐fixed paraffin‐embedded patient tissue samples using truXTRAC FFPE total NA Plus Kit (Covaris, Inc.).…”
Section: Casementioning
confidence: 99%
“…The tumor nodules populated the dermis and invaded the subcutis and were surrounded by a mixture of recognizable residual glomus tumor and fibrosis/hyalinization (Figure 1A,B Comprehensive sarcoma fusion panel was performed following previously described procedure. 4 Briefly, total nucleic acid was extracted from sections from formalin-fixed paraffin-embedded patient tissue samples using truXTRAC FFPE total NA Plus Kit (Covaris, Inc.). After measuring RNA quantity using Qubit fluorometer (Life Technologies), the targetenriched cDNA libraries were prepared with a custom-designed Archer FusionPlex panel with 94 target genes (ArcherDX, Inc.) as per the manufacturer's instruction.…”
mentioning
confidence: 99%