Diagnostic approach in TFE3-rearranged renal cell carcinoma: A multi-institutional international survey Journal Article
| Authors: | Akgul, M.; Williamson, S. R.; Ertoy, D.; Argani, P.; Gupta, S.; Caliò, A.; Reuter, V.; Tickoo, S.; Al-Ahmadie, H. A.; Netto, G. J.; Hes, O.; Hirsch, M. S.; Delahunt, B.; Mehra, R.; Skala, S.; Osunkoya, A. O.; Harik, L.; Rao, P.; Sangoi, A. R.; Nourieh, M.; Zynger, D. L.; Smith, S. C.; Nazeer, T.; Gumuskaya, B.; Kulac, I.; Khani, F.; Tretiakova, M. S.; Vakar-Lopez, F.; Barkan, G.; Molinié, V.; Verkarre, V.; Rao, Q.; Kis, L.; Panizo, A.; Farzaneh, T.; Magers, M. J.; Sanfrancesco, J.; Perrino, C.; Gondim, D.; Araneta, R.; So, J. S.; Ro, J. Y.; Wasco, M.; Hameed, O.; Lopez-Beltran, A.; Samaratunga, H.; Wobker, S. E.; Melamed, J.; Cheng, L.; Idrees, M. T. |
| Article Title: | Diagnostic approach in TFE3-rearranged renal cell carcinoma: A multi-institutional international survey |
| Abstract: | Transcription factor E3-rearranged renal cell carcinoma (TFE3-RCC) has heterogenous morphologic and immunohistochemical (IHC) features. 131 pathologists with genitourinary expertise were invited in an online survey containing 23 questions assessing their experience on TFE3-RCC diagnostic work-up. Fifty (38%) participants completed the survey. 46 of 50 participants reported multiple patterns, most commonly papillary pattern (almost always 9/46, 19.5%; frequently 29/46, 63%). Large epithelioid cells with abundant cytoplasm were the most encountered cytologic feature, with either clear (almost always 10/50, 20%; frequently 34/50, 68%) or eosinophilic (almost always 4/49, 8%; frequently 28/49, 57%) cytology. Strong (3+) or diffuse (>75% of tumour cells) nuclear TFE3 IHC expression was considered diagnostic by 13/46 (28%) and 12/47 (26%) participants, respectively. Main TFE3 IHC issues were the low specificity (16/42, 38%), unreliable staining performance (15/42, 36%) and background staining (12/42, 29%). Most preferred IHC assays other than TFE3, cathepsin K and pancytokeratin were melan A (44/50, 88%), HMB45 (43/50, 86%), carbonic anhydrase IX (41/50, 82%) and CK7 (32/50, 64%). Cut-off for positive TFE3 fluorescent in situ hybridisation (FISH) was preferably 10% (9/50, 18%), although significant variation in cut-off values was present. 23/48 (48%) participants required TFE3 FISH testing to confirm TFE3-RCC regardless of the histomorphologic and IHC assessment. 28/50 (56%) participants would request additional molecular studies other than FISH assay in selected cases, whereas 3/50 participants use additional molecular cases in all cases when TFE3-RCC is in the differential. Optimal diagnostic approach on TFE3-RCC is impacted by IHC and/or FISH assay preferences as well as their conflicting interpretation methods. © Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. |
| Keywords: | immunohistochemistry; kidney neoplasms; genitourinary pathology |
| Journal Title: | Journal of Clinical Pathology |
| Volume: | 74 |
| Issue: | 5 |
| ISSN: | 0021-9746 |
| Publisher: | BMJ Publishing Group Ltd. |
| Date Published: | 2021-05-01 |
| Start Page: | 291 |
| End Page: | 299 |
| Language: | English |
| DOI: | 10.1136/jclinpath-2020-207372 |
| PUBMED: | 33514585 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Review -- Export Date: 3 May 2021 -- Source: Scopus |
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