title: Fine-needle aspiration of a Xp11.2 translocation/TFE3 fusion renal cell carcinoma metastatic to the lung: report of a case and review of the literature.
abstract: A 57-yr-old woman presented to the National Cancer Institute (NCI) with a history of nephrectomy for a clear cell renal cell carcinoma (RCC), Fuhrman grade 3 of 4 diagnosed 1 yr prior to admission to the NCI. A CT scan done upon admission revealed multiple bilateral lung masses. A CT-guided fine-needle aspiration (FNA) of one of the lung masses revealed a cellular specimen composed primarily of follicular structures surrounding dense hyalinized central cores. The cells in the follicular structures displayed bland nuclei and had granular to vacuolated cytoplasm. Papillary structures were also appreciated. Immunocytochemical studies showed tumor cells that were strongly vimentin and TFE3 positive. Focal staining for AE1/AE3 and CD10 was observed, as was negative staining for EMA. A surgical biopsy specimen reflected the FNA findings and demonstrated a similar immunoprofile. These findings correspond to the recently described Xp11.2 translocation/TFE3 fusion renal cell carcinoma. To our knowledge, this is the first report describing the cytologic features of an Xp11.2 translocation/TFE3 fusion RCC.
authors.affiliation: Department of Pathology, University of Oklahoma Health Sciences Center, 940 S.L. Young Boulevard, Oklahoma City, OK 73104, USA. malcolm-schinstine@OUHSC.edu
authors.forename: Malcolm
authors.initials: M
authors.lastname: Schinstine
authors.forename: Armando C
authors.initials: AC
authors.lastname: Filie
authors.forename: Carlos
authors.initials: C
authors.lastname: Torres-Cabala
authors.forename: Andrea
authors.initials: A
authors.lastname: Abati
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
authors.forename: Maria
authors.initials: M
authors.lastname: Merino
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D044963:Biopsy, Fine-Needle; D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000473:pathology*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology*; D008175:Lung Neoplasms / Q000235:genetics / Q000473:pathology / Q000556:secondary*; D008875:Middle Aged; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human