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Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: III: Molecular Pathology of Kidney Cancer
SR. Williamson, AJ. Gill, P. Argani, YB. Chen, L. Egevad, G. Kristiansen, DJ. Grignon, O. Hes,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu konsensus - konference, časopisecké články, směrnice pro lékařskou praxi
Grantová podpora
P30 CA008748
NCI NIH HHS - United States
Odkazy
PubMed
32251007
DOI
10.1097/pas.0000000000001476
Knihovny.cz E-zdroje
- MeSH
- dědičné nádorové syndromy diagnóza genetika metabolismus patologie MeSH
- hybridizace in situ fluorescenční MeSH
- imunohistochemie MeSH
- karcinom z renálních buněk diagnóza genetika metabolismus patologie MeSH
- laboratorní medicína MeSH
- lidé MeSH
- metastázy nádorů MeSH
- molekulární patologie MeSH
- mutace MeSH
- nádorové biomarkery * genetika metabolismus MeSH
- nádory ledvin diagnóza genetika metabolismus patologie MeSH
- prognóza MeSH
- společnosti lékařské MeSH
- urologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- konsensus - konference MeSH
- směrnice pro lékařskou praxi MeSH
Renal cell carcinoma (RCC) subtypes are increasingly being discerned via their molecular underpinnings. Frequently this can be correlated to histologic and immunohistochemical surrogates, such that only simple targeted molecular assays, or none at all, are needed for diagnostic confirmation. In clear cell RCC, VHL mutation and 3p loss are well known; however, other genes with emerging important roles include SETD2, BAP1, and PBRM1, among others. Papillary RCC type 2 is now known to include likely several different molecular entities, such as fumarate hydratase (FH) deficient RCC. In MIT family translocation RCC, an increasing number of gene fusions are now described. Some TFE3 fusion partners, such as NONO, GRIPAP1, RBMX, and RBM10 may show a deceptive fluorescence in situ hybridization result due to the proximity of the genes on the same chromosome. FH and succinate dehydrogenase deficient RCC have implications for patient counseling due to heritable syndromes and the aggressiveness of FH-deficient RCC. Immunohistochemistry is increasingly available and helpful for recognizing both. Emerging tumor types with strong evidence for distinct diagnostic entities include eosinophilic solid and cystic RCC and TFEB/VEGFA/6p21 amplified RCC. Other emerging entities that are less clearly understood include TCEB1 mutated RCC, RCC with ALK rearrangement, renal neoplasms with mutations of TSC2 or MTOR, and RCC with fibromuscular stroma. In metastatic RCC, the role of molecular studies is not entirely defined at present, although there may be an increasing role for genomic analysis related to specific therapy pathways, such as for tyrosine kinase or MTOR inhibitors.
Department of Oncology and Pathology Karolinska Institutet Stockholm Sweden
Department of Pathology Indiana University School of Medicine Indianapolis IN
Department of Pathology Johns Hopkins University School of Medicine Baltimore MD
Department of Pathology Memorial Sloan Kettering Cancer Center New York NY
Institute of Pathology University Hospital Bonn Bonn Germany
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