[TFEB-amplified renal cell carcinoma. A case report and review of the literature].

Szczegóły
Abstrakt

Tytuł:: [TFEB-amplified renal cell carcinoma. A case report and review of the literature].
Autorzy:: Mayoral Guisado C; Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Badajoz, Badajoz, España. Electronic address: .
Gómez Durán Á; Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Badajoz, Badajoz, España.
Agustín Benítez López D; Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Badajoz, Badajoz, España.
Toro Zambrano W; Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Badajoz, Badajoz, España.
Rubio Fernández A; Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Badajoz, Badajoz, España.
Moreno Ontalba A; Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Badajoz, Badajoz, España.
Díaz Delgado M; Servicio de Anatomía Patológica, Complejo Hospitalario Universitario de Badajoz, Badajoz, España.
Transliterated Title:: Carcinoma de células renales asociado a amplificación del gen TFEB. Presentación de un caso y revisión de la literatura.
Źródło:: Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia [Rev Esp Patol] 2018 Oct - Dec; Vol. 51 (4), pp. 248-252. Date of Electronic Publication: 2018 Feb 16.
Typ publikacji:: Case Reports; Journal Article; Review
Język:: Spanish; Castilian
Imprint Name(s):: Publication: <2006->: Barcelona : Elsevier España
Original Publication: Barcelona ; Philadelphia : Prous Science,
MeSH Terms:: Gene Amplification*
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics
Carcinoma, Renal Cell/*genetics
Kidney Neoplasms/*genetics
Neoplasm Proteins/*genetics
Adult ; Anaplastic Lymphoma Kinase/genetics ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/analysis ; Biomarkers, Tumor/analysis ; Carcinoma, Renal Cell/chemistry ; Carcinoma, Renal Cell/pathology ; Carcinoma, Renal Cell/secondary ; Chromosome Aberrations ; Diagnosis, Differential ; Humans ; In Situ Hybridization, Fluorescence ; Kidney Neoplasms/chemistry ; Kidney Neoplasms/pathology ; Kidney Neoplasms/surgery ; Male ; Neoplasm Metastasis ; Neoplasm Proteins/analysis ; Nephrectomy ; Oncogene Proteins, Fusion/genetics ; Translocation, Genetic
Contributed Indexing:: Keywords: 6p cromosome; Carcinoma de células renales; Cromosoma 6p; Renal cell carcinoma; TFEB
Substance Nomenclature:: 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors)
0 (Biomarkers, Tumor)
0 (Neoplasm Proteins)
0 (Oncogene Proteins, Fusion)
0 (TFEB protein, human)
EC 2.7.10.1 (ALK protein, human)
EC 2.7.10.1 (Anaplastic Lymphoma Kinase)
Entry Date(s):: Date Created: 20181002 Date Completed: 20191104 Latest Revision: 20191104
Update Code:: 20240105
DOI:: 10.1016/j.patol.2018.01.001
PMID:: 30269777
: Czasopismo naukowe

Renal carcinomas associated with translocation of transcription factors of the MiT/TFE family include, according to the latest World Health Organization classification, carcinomas with Xp11 translocation that involve the TFE3 gene and those with translocation t(6;11)(p21;q12) that affect the TFEB gene. Each one of these sub-types have well-defined clinicopathological and molecular characteristics. Currently, progress in molecular techniques has led to the description of neoplasms with molecular changes in these same genes but with alterations different to translocation. Thus, recently, cases have been published of TFEB-amplified renal carcinomas with prognoses that vary from cases associated with translocation and could therefore represent a new entity. We present a case of TFEB-amplified renal carcinoma with a full description of the clinicopathological characteristics and an updated revision of these neoplasms.
(Copyright © 2018 Sociedad Española de Anatomía Patológica. Publicado por Elsevier España, S.L.U. All rights reserved.)

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