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

TitleDiagnostic approach in TFE3-rearranged renal cell carcinoma: a multi-institutional international survey.
Publication TypeJournal Article
Year of Publication2021
AuthorsAkgul M, Williamson SR, Ertoy D, Argani P, Gupta S, CaliĆ² A, Reuter V, Tickoo S, Al-Ahmadie HA, Netto GJ, Hes O, Hirsch MS, Delahunt B, Mehra R, Skala S, Osunkoya AO, Harik L, Rao P, Sangoi AR, Nourieh M, Zynger DL, Smith SCristopher, Nazeer T, Gumuskaya B, Kulac I, Khani F, Tretiakova MS, Vakar-Lopez F, Barkan G, MoliniĆ© V, Verkarre V, Rao Q, Kis L, Panizo A, Farzaneh T, Magers MJ, Sanfrancesco J, Perrino C, Gondim D, Araneta R, So JS, Ro JY, Wasco M, Hameed O, Lopez-Beltran A, Samaratunga H, Wobker SE, Melamed J, Cheng L, Idrees MT
JournalJ Clin Pathol
Date Published2021 May
KeywordsAdolescent, Adult, Aged, Aged, 80 and over, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Biomarkers, Tumor, Carcinoma, Renal Cell, Child, Child, Preschool, Female, Gene Rearrangement, Genetic Predisposition to Disease, Health Care Surveys, Humans, Immunohistochemistry, In Situ Hybridization, Fluorescence, Infant, Kidney Neoplasms, Male, Middle Aged, Pathologists, Phenotype, Practice Patterns, Physicians', Predictive Value of Tests, Young Adult

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 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 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.

Alternate JournalJ Clin Pathol
PubMed ID33514585
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