title: Re-evaluation of histological type by immunohistochemical and genetic study of transcription factors (TFE3 and TFEB) of VHL gene mutation-negative clear cell renal cell carcinoma and other special types of renal tumor.
abstract: Translocation-type renal carcinoma has been recently discovered, and it is possible that this tumor may have been previously diagnosed as other types of renal tumor. We have subjected 41 renal tumors, including VHL gene mutation-negative clear cell renal cell carcinoma (RCC), papillary RCC, and chromophobe RCC, to immunohistochemistry of transcription factor E3 (TFE3) and TFEB. All tumors were histologically evaluated by additional immunohistochemical study. As a result, 5 tumors showed a positive reaction for TFE3 with a range from 1+ to 2+ in intensity. No tumors were positive for TFEB. In 5 tumors immunohistochemically positive for TFE3, chimeric transcripts including ASPL-TFE3, PRCC-TFE3, CLTCTFE3, PSF-TFE3, or Nono-TFE3 were not detected. The diagnosis of 6 tumors was changed by reevaluation through retrospective histological and immunohistochemical study. In 4 of 6 tumors, the diagnosis of clear cell RCC was changed to chromophobe RCC. In 1 tumor, oncocytoma was detectable, and RCC with rhabdoid features and sarcomatoid changes was detected in 1 tumor. Finally, the cutoff value of TFE3 immunohistochemistry should be more than 2+ with a wide range. The translocation-type renal carcinoma seems to be quite rare.
authors.affiliation: Department of Diagnostic Pathology, Kochi Red Cross Hospital, 2-13-51 Shin-honmachi, Kochi, 780-8562, Japan. kurochankochi@yahoo.co.jp
authors.forename: Naoto
authors.initials: N
authors.lastname: Kuroda
authors.forename: Chiaki
authors.initials: C
authors.lastname: Kawada
authors.forename: Kenji
authors.initials: K
authors.lastname: Tamura
authors.forename: Makoto
authors.initials: M
authors.lastname: Hiroi
authors.forename: Ondrej
authors.initials: O
authors.lastname: Hes
authors.forename: Michal
authors.initials: M
authors.lastname: Michal
authors.forename: Yukari
authors.initials: Y
authors.lastname: Wada
authors.forename: Kaori
authors.initials: K
authors.lastname: Inoue
authors.forename: Masahiko
authors.initials: M
authors.lastname: Ohara
authors.forename: Keiko
authors.initials: K
authors.lastname: Mizuno
authors.forename: Taro
authors.initials: T
authors.lastname: Shuin
authors.forename: Gang-Hong
authors.initials: GH
authors.lastname: Lee
mesh_terms: D018249:Adenoma, Oxyphilic / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology; D000328:Adult; D000368:Aged; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics / Q000378:metabolism*; D015820:Cadherins / Q000378:metabolism; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D058965:MART-1 Antigen / Q000378:metabolism; D008297:Male; D020460:Melanosomes / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000378:metabolism; D009418:S100 Proteins / Q000378:metabolism; D014158:Transcription, Genetic; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D015820:Cadherins; D058965:MART-1 Antigen; D009418:S100 Proteins; C110294:S100A1 protein; C069203:TFE3 protein, human; C064972:TFEB protein, human; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D019009:Proto-Oncogene Proteins c-kit; C497446:VHL protein, human