Abstract
Aims Xp11 translocation renal cell carcinomas (TRCCs) showing rearrangements of TFE3 are rare, present in TFE3 rearrangements using FISH. Methods FISH was performed using the ZytoLight SPEC TFE3 Dual Colour Break Apart FISH Probe (ZytoVision). Results Case 1 was a 51-year-old female with TFE3 rearrangement present, one intact fused FISH signal, one broken apart signal. Case 2 was a 48-year-old male with TFE3 rearrangement present and the single TFE3 locus demonstrating a positive breakapart FISH signal pattern. Case 3 was a 45-year-old male with no evidence of TFE3 break-apart signal, however an atypical pattern was observed with an additional, intact TFE3 locus. X and Y FISH to exclude underlying sex copy number changes showed a normal male XY pattern. Discussion TFE3 breakapart FISH is useful for identifying TRCC. We also report a case in a male with very suggestive histology, lacking the classic breakapart pattern, instead showing an additional copy of the TFE3 locus. We postulate that this may represent an as yet unrecognised variant FISH pattern.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
