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Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK-RAS Pathway.
Lobo, João; Canete-Portillo, Sofia; Pena, Maria Del Carmen Rodriguez; McKenney, Jesse K; Aron, Manju; Massicano, Felipe; Wilk, Brandon M; Gajapathy, Manavalan; Brown, Donna M; Baydar, Dilek E; Matoso, Andres; Rioux-Leclerq, Nathalie; Pan, Chin-Chen; Tretiakova, Maria S; Trpkov, Kiril; Williamson, Sean R; Rais-Bahrami, Soroush; Mackinnon, Alexander C; Harada, Shuko; Worthey, Elizabeth A; Magi-Galluzzi, Cristina.
Afiliación
  • Lobo J; Department of Pathology, Portuguese Oncology Institute of Porto; Cancer Biology and Epigenetics Group, IPO Porto Research Center (GEBC CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto) / Porto Comprehensive Cancer Center Raquel Seruca (P.CCC) and RISE@CI-IPOP (Health Research Network), Po
  • Canete-Portillo S; Department of Pathology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama.
  • Pena MDCR; Department of Pathology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama.
  • McKenney JK; Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
  • Aron M; Department of Pathology and Laboratory Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
  • Massicano F; Department of Genetics, Center for Computational Genomics and Data Science, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama.
  • Wilk BM; Department of Genetics, Center for Computational Genomics and Data Science, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama.
  • Gajapathy M; Department of Genetics, Center for Computational Genomics and Data Science, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama.
  • Brown DM; Department of Genetics, Center for Computational Genomics and Data Science, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama.
  • Baydar DE; Department of Pathology, Koc University School of Medicine, Istanbul, Turkey.
  • Matoso A; Departments of Pathology, Urology, Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Rioux-Leclerq N; Department of Pathology, CHU Rennes - Hôpital Pontchaillou, Rennes, France.
  • Pan CC; Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Tretiakova MS; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington.
  • Trpkov K; Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Canada.
  • Williamson SR; Department of Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
  • Rais-Bahrami S; Department of Urology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama; Department of Radiology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama; O'Neal Comprehensive Cancer Center, University of Alabama at Birmingham Heersink S
  • Mackinnon AC; Department of Pathology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama.
  • Harada S; Department of Pathology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama.
  • Worthey EA; Department of Genetics, Center for Computational Genomics and Data Science, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama.
  • Magi-Galluzzi C; Department of Pathology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama; O'Neal Comprehensive Cancer Center, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, Albama. Electronic address: cmagigalluzzi@uabmc.edu.
Mod Pathol ; 37(6): 100492, 2024 Jun.
Article en En | MEDLINE | ID: mdl-38614322
ABSTRACT
Juxtaglomerular cell tumor (JGCT) is a rare neoplasm, part of the family of mesenchymal tumors of the kidney. Although the pathophysiological and clinical correlates of JGCT are well known, as these tumors are an important cause of early-onset arterial hypertension refractory to medical treatment, their molecular background is unknown, with only few small studies investigating their karyotype. Herein we describe a multi-institutional cohort of JGCTs diagnosed by experienced genitourinary pathologists, evaluating clinical presentation and outcome, morphologic diversity, and, importantly, the molecular features. Ten JGCTs were collected from 9 institutions, studied by immunohistochemistry, and submitted to whole exome sequencing. Our findings highlight the morphologic heterogeneity of JGCT, which can mimic several kidney tumor entities. Three cases showed concerning histologic features, but the patient course was unremarkable, which suggests that morphologic evaluation alone cannot reliably predict the clinical behavior. Gain-of-function variants in RAS GTPases were detected in JGCTs, with no evidence of additional recurrent genomic alterations. In conclusion, we present the largest series of JGCT characterized by whole exome sequencing, highlighting the putative role of the MAPK-RAS pathway.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación del Exoma / Aparato Yuxtaglomerular / Neoplasias Renales Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Mod Pathol Asunto de la revista: PATOLOGIA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuenciación del Exoma / Aparato Yuxtaglomerular / Neoplasias Renales Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Mod Pathol Asunto de la revista: PATOLOGIA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos