title: A renal epithelioid angiomyolipoma/perivascular epithelioid cell tumor with TFE3 gene break visualized by FISH.
abstract: We present a case of renal epithelioid angiomyolipoma (eAML)/perivascular epithelioid cell tumor (PEComa) with a TFE3 gene break visible by fluorescence in situ hybridization (FISH). Histologically, the tumor was composed of mainly epithelioid cells forming solid arrangements with small foci of spindle cells. In a small portion of the tumor, neoplastic cells displayed nuclear pleomorphism, such as polygonal and enlarged vesicular nuclei with prominent nucleoli. Marked vascularity was noticeable in the background, and perivascular hyaline sclerosis was also seen. Immunohistochemically, neoplastic cells were diffusely positive for α-smooth muscle actin and melanosome in the cytoplasm. Nuclei of many neoplastic cells were positive for TFE3. FISH analysis of the TFE3 gene break using the Poseidon TFE3 (Xp11) Break probe revealed positive results. Reverse transcriptase-polymerase chain reactions (RT-PCR) for ASPL/TFE3, PRCC/TFE3, CLTC/TFE3, PSF/TFE3, and NonO/TFE3 gene fusions all revealed negative results. This is the first reported case of renal eAML/PEComa with a TFE3 gene break, and it has unique histological findings as compared to previously reported TFE3 gene fusion-positive PEComas. Pathologists should recognize that PEComa with TFE3 gene fusion can arise even in the kidney.
authors.affiliation: Department of Pathology, Kansai Medical University, Hirakata Hospital, 2-3-1 Shinmachi, Hirakata, Osaka 573-1191, Japan.
authors.forename: Chisato
authors.initials: C
authors.lastname: Ohe
authors.forename: Naoto
authors.initials: N
authors.lastname: Kuroda
authors.forename: Ondrej
authors.initials: O
authors.lastname: Hes
authors.forename: Michal
authors.initials: M
authors.lastname: Michal
authors.forename: Tomas
authors.initials: T
authors.lastname: Vanecek
authors.forename: Petr
authors.initials: P
authors.lastname: Grossmann
authors.forename: Yukichi
authors.initials: Y
authors.lastname: Tanaka
authors.forename: Mio
authors.initials: M
authors.lastname: Tanaka
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Inui
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Komai
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsuda
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Uemura
mesh_terms: D018207:Angiomyolipoma / Q000235:genetics* / Q000473:pathology; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics; D004268:DNA-Binding Proteins; D015622:Epithelioid Cells / Q000473:pathology; D005260:Female; D050939:Gene Fusion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics; D050810:Octamer Transcription Factors / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D054973:Perivascular Epithelioid Cell Neoplasms / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C422743:ASPSCR1 protein, human; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; C083214:NONO protein, human; D009363:Neoplasm Proteins; D034521:Nuclear Matrix-Associated Proteins; D050810:Octamer Transcription Factors; D015514:Oncogene Proteins, Fusion; C415042:PRCC protein, human; D016601:RNA-Binding Proteins; C069203:TFE3 protein, human