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Sarcomatoid renal cell tumor harboring a novel BYSL::TFEB fusion with concurrent TFEB amplification.
Lin, Ruihe; Flerova, Elizaveta; Wamsley, Christine E; McCue, Peter A; Lallas, Costas D; Jiang, Wei; Huang, Jialing; Wang, Zi-Xuan; Li, Li.
Afiliación
  • Lin R; Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
  • Flerova E; Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
  • Wamsley CE; Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
  • McCue PA; Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
  • Lallas CD; Department of Urology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
  • Jiang W; Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
  • Huang J; Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
  • Wang ZX; Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
  • Li L; Department of Pathology and Genomic Medicine, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
Genes Chromosomes Cancer ; 62(6): 353-360, 2023 06.
Article en En | MEDLINE | ID: mdl-36704911
Transcription factor EB (TFEB)-rearranged renal cell carcinoma (RCC) exhibits diverse gene fusion patterns and heterogeneous clinicopathologic features. Rare TFEB-amplified RCCs have been described recently and are associated with a more aggressive clinical course. Herein, we report a case of an 86-year-old man with a solid 9.2-cm kidney tumor that showed a diffuse high-grade sarcomatoid morphology. The tumor demonstrated a novel BYSL::TFEB fusion containing exons 1-2 of the BYSL gene fused to exons 3-10 of TFEB via next-generation sequencing by using NextSeq sequencer. Fluorescence in situ hybridization (FISH) studies displayed concurrent high-copy number TFEB amplification in two distinct patterns, a balanced increase of 5' and 3' copies, and solely increased 5' copies, and mouse double minute 2 (MDM2) gene amplification by using TFEB (6p21.1) dual-color break-apart probe and MDM2 FISH probe. Notably, the tumor showed a distinctive immunoprofile with overexpressions of TFEB, epithelial membrane antigen, Cathepsin K, and PDL-1 (SP263). FISH test for transcription factor binding to IGHM enhancer 3 (TFE3) was negative for rearrangement and corresponding immunonegativity of TFE3. These findings not only expand the repertoire of known TFEB fusion partners implicated in tumorigenesis, but also may provide novel information for target therapy.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sarcoma / Neoplasias de los Tejidos Blandos / Carcinoma de Células Renales / Neoplasias Renales Límite: Animals / Humans Idioma: En Revista: Genes Chromosomes Cancer Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sarcoma / Neoplasias de los Tejidos Blandos / Carcinoma de Células Renales / Neoplasias Renales Límite: Animals / Humans Idioma: En Revista: Genes Chromosomes Cancer Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos