Diagnostic approach in TFE3-rearranged renal cell carcinoma: A multi-institutional international survey

Mahmut Akgul, Sean R. Williamson, DIlek Ertoy, Pedram Argani, Sounak Gupta, Anna Caliò, Victor Reuter, Satish Tickoo, Hikmat A. Al-Ahmadie, George J. Netto, Ondrej Hes, Michelle S. Hirsch, Brett Delahunt, Rohit Mehra, Stephanie Skala, Adeboye O. Osunkoya, Lara Harik, Priya Rao, Ankur R. Sangoi, Maya NouriehDebra L. Zynger, Steven Cristopher Smith, Tipu Nazeer, Berrak Gumuskaya, Ibrahim Kulac, Francesca Khani, Maria S. Tretiakova, Funda Vakar-Lopez, Guliz Barkan, Vincent Molinié, Virginie Verkarre, Qiu Rao, Lorand Kis, Angel Panizo, Ted Farzaneh, Martin J. Magers, Joseph Sanfrancesco, Carmen Perrino, DIbson Gondim, Ronald Araneta, Jeffrey S. So, Jae Y. Ro, Matthew Wasco, Omar Hameed, Antonio Lopez-Beltran, Hemamali Samaratunga, Sara E. Wobker, Jonathan Melamed, Liang Cheng, Muhammad T. Idrees

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)291-299
Number of pages9
JournalJournal of Clinical Pathology
Volume74
Issue number5
DOIs
StatePublished - May 1 2021

Keywords

  • genitourinary pathology
  • immunohistochemistry
  • kidney neoplasms

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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