RBM10-TFE3 renal cell carcinoma. A Potential diagnostic pitfall due to cryptic intrachromosomal Xp11.2 inversion resulting in false-negative TFE3 FISH Journal Article
| Authors: | Argani, P.; Zhang, L.; Reuter, V. E.; Tickoo, S. K.; Antonescu, C. R. |
| Article Title: | RBM10-TFE3 renal cell carcinoma. A Potential diagnostic pitfall due to cryptic intrachromosomal Xp11.2 inversion resulting in false-negative TFE3 FISH |
| Abstract: | Xp11 translocation renal cell carcinoma (RCC) are defined by chromosome translocations involving the Xp11 breakpoint which results in one of a variety of TFE3 gene fusions. TFE3 break-Apart florescence in situ hybridization (FISH) assays are generally preferred to TFE3 immunohistochemistry (IHC) as a means of confirming the diagnosis in archival material, as FISH is less sensitive to the variable fixation which can result in false positive or false negative IHC. Prompted by a case report in the cytogenetics literature, we identify 3 cases of Xp11 translocation RCC characterized by a subtle chromosomal inversion involving the short arm of the X chromosome, resulting in an RBM10-TFE3 gene fusion. TFE3 rearrangement was not detected by conventional TFE3 break-Apart FISH, but was suggested by strong diffuse TFE3 immunoreactivity in a clean background. We then developed novel fosmid probes to detect the RBM10-TFE3 gene fusion in archival material. These cases validate RBM10-TFE3 as a recurrent gene fusion in Xp11 translocation RCC, illustrate a source of false-negative TFE3 break-Apart FISH, and highlight the complementary role of TFE3 IHC and TFE3 FISH. © Copyright 2017 Wolters Kluwer Health, Inc. All rights reserved. |
| Keywords: | translocation; tfe3; renal neoplasm |
| Journal Title: | American Journal of Surgical Pathology |
| Volume: | 41 |
| Issue: | 5 |
| ISSN: | 0147-5185 |
| Publisher: | Lippincott Williams & Wilkins |
| Date Published: | 2017-05-01 |
| Start Page: | 655 |
| End Page: | 662 |
| Language: | English |
| DOI: | 10.1097/pas.0000000000000835 |
| PROVIDER: | scopus |
| PMCID: | PMC5391276 |
| PUBMED: | 28296677 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 2 May 2017 -- Source: Scopus |
Altmetric
Citation Impact
BMJ Impact Analytics
Related MSK Work