Cargando…

Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting

SIMPLE SUMMARY: In the past decade, several novel renal neoplasms characterized by mutations in the tuberous sclerosis complex (TSC) or mechanistic target of rapamycin (mTOR) pathway genes in both the sporadic and germline settings have been described. Herein, we review these entities, highlighting...

Descripción completa

Detalles Bibliográficos
Autores principales: Kapur, Payal, Brugarolas, James, Trpkov, Kiril
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452688/
https://www.ncbi.nlm.nih.gov/pubmed/37627070
http://dx.doi.org/10.3390/cancers15164043
_version_ 1785095733870854144
author Kapur, Payal
Brugarolas, James
Trpkov, Kiril
author_facet Kapur, Payal
Brugarolas, James
Trpkov, Kiril
author_sort Kapur, Payal
collection PubMed
description SIMPLE SUMMARY: In the past decade, several novel renal neoplasms characterized by mutations in the tuberous sclerosis complex (TSC) or mechanistic target of rapamycin (mTOR) pathway genes in both the sporadic and germline settings have been described. Herein, we review these entities, highlighting their clinical and molecular characteristics. ABSTRACT: A spectrum of renal tumors associated with frequent TSC/mTOR (tuberous sclerosis complex/mechanistic target of rapamycin) pathway gene alterations (in both the germline and sporadic settings) have recently been described. These include renal cell carcinoma with fibromyomatous stroma (RCC FMS), eosinophilic solid and cystic renal cell carcinoma (ESC RCC), eosinophilic vacuolated tumor (EVT), and low-grade oncocytic tumor (LOT). Most of these entities have characteristic morphologic and immunohistochemical features that enable their recognition without the need for molecular studies. In this report, we summarize recent advances and discuss their evolving complexity.
format Online
Article
Text
id pubmed-10452688
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-104526882023-08-26 Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting Kapur, Payal Brugarolas, James Trpkov, Kiril Cancers (Basel) Review SIMPLE SUMMARY: In the past decade, several novel renal neoplasms characterized by mutations in the tuberous sclerosis complex (TSC) or mechanistic target of rapamycin (mTOR) pathway genes in both the sporadic and germline settings have been described. Herein, we review these entities, highlighting their clinical and molecular characteristics. ABSTRACT: A spectrum of renal tumors associated with frequent TSC/mTOR (tuberous sclerosis complex/mechanistic target of rapamycin) pathway gene alterations (in both the germline and sporadic settings) have recently been described. These include renal cell carcinoma with fibromyomatous stroma (RCC FMS), eosinophilic solid and cystic renal cell carcinoma (ESC RCC), eosinophilic vacuolated tumor (EVT), and low-grade oncocytic tumor (LOT). Most of these entities have characteristic morphologic and immunohistochemical features that enable their recognition without the need for molecular studies. In this report, we summarize recent advances and discuss their evolving complexity. MDPI 2023-08-10 /pmc/articles/PMC10452688/ /pubmed/37627070 http://dx.doi.org/10.3390/cancers15164043 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Kapur, Payal
Brugarolas, James
Trpkov, Kiril
Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting
title Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting
title_full Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting
title_fullStr Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting
title_full_unstemmed Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting
title_short Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting
title_sort recent advances in renal tumors with tsc/mtor pathway abnormalities in patients with tuberous sclerosis complex and in the sporadic setting
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452688/
https://www.ncbi.nlm.nih.gov/pubmed/37627070
http://dx.doi.org/10.3390/cancers15164043
work_keys_str_mv AT kapurpayal recentadvancesinrenaltumorswithtscmtorpathwayabnormalitiesinpatientswithtuberoussclerosiscomplexandinthesporadicsetting
AT brugarolasjames recentadvancesinrenaltumorswithtscmtorpathwayabnormalitiesinpatientswithtuberoussclerosiscomplexandinthesporadicsetting
AT trpkovkiril recentadvancesinrenaltumorswithtscmtorpathwayabnormalitiesinpatientswithtuberoussclerosiscomplexandinthesporadicsetting