Cargando…

Similarities and Differences between Clear Cell Tubulo-Papillary and Conventional Clear Cell Renal Cell Carcinoma: A Comparative Phenotypical and Mutational Analysis

Background: Clear cell tubulo-papillary renal cell carcinoma (cctpRCC) is characterized by clear cell morphology, but differs from conventional clear cell carcinoma (ccRCC) for its indolent clinical behavior and genetic background. The differential diagnosis between the two is based on histology and...

Descripción completa

Detalles Bibliográficos
Autores principales: Giunchi, Francesca, Franceschini, Tania, Gruppioni, Elisa, Altimari, Annalisa, Capizzi, Elisa, Massari, Francesco, Schiavina, Riccardo, Brunelli, Matteo, Martignoni, Guido, Fiorentino, Michelangelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168142/
https://www.ncbi.nlm.nih.gov/pubmed/32102250
http://dx.doi.org/10.3390/diagnostics10020123
_version_ 1783523619167535104
author Giunchi, Francesca
Franceschini, Tania
Gruppioni, Elisa
Altimari, Annalisa
Capizzi, Elisa
Massari, Francesco
Schiavina, Riccardo
Brunelli, Matteo
Martignoni, Guido
Fiorentino, Michelangelo
author_facet Giunchi, Francesca
Franceschini, Tania
Gruppioni, Elisa
Altimari, Annalisa
Capizzi, Elisa
Massari, Francesco
Schiavina, Riccardo
Brunelli, Matteo
Martignoni, Guido
Fiorentino, Michelangelo
author_sort Giunchi, Francesca
collection PubMed
description Background: Clear cell tubulo-papillary renal cell carcinoma (cctpRCC) is characterized by clear cell morphology, but differs from conventional clear cell carcinoma (ccRCC) for its indolent clinical behavior and genetic background. The differential diagnosis between the two is based on histology and immunohistochemistry (IHC). Methods: We performed a comparative case-control histological, IHC, and genetic analysis by next generation sequencing (NGS), to point out the differences in 10 cases of cctpRCC, and six controls of ccRCC with low stage and grade. Results: All 16 cases showed the IHC profile with cytokeratin 7, racemase, and carbonic anhydrase IX expected for the histological features of each tumor type. By contrast, the NGS mutation analysis that covered 207 amplicons of 50 oncogenes or tumor suppressor genes provided conflicting results. Among the 10 cctpRCC cases, eight (80%) were wild type for all of the genes in the panel, while two (20%) harbored VHL mutations typical of ccRCC. Three of the six (50%) ccRCC control cases showed expected VHL mutations; two (33%) harbored pathogenic mutations in the p53 or the CKIT genes; and one (16%) was wild type. Conclusion: We can assume that histology and ICH are not sufficient for a definitive diagnosis of cctpRCC or ccRCC. Although with a panel covering 50 genes, we found that 80% of cctpRCC were genetically silent; thus, suggesting an indolent biology of these tumors. The differential diagnosis between ccptRCC and ccRCC for the choice of the best therapeutic strategy likely requires the comprehensive evaluation of histology, IHC, and at least VHL mutations.
format Online
Article
Text
id pubmed-7168142
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-71681422020-04-21 Similarities and Differences between Clear Cell Tubulo-Papillary and Conventional Clear Cell Renal Cell Carcinoma: A Comparative Phenotypical and Mutational Analysis Giunchi, Francesca Franceschini, Tania Gruppioni, Elisa Altimari, Annalisa Capizzi, Elisa Massari, Francesco Schiavina, Riccardo Brunelli, Matteo Martignoni, Guido Fiorentino, Michelangelo Diagnostics (Basel) Article Background: Clear cell tubulo-papillary renal cell carcinoma (cctpRCC) is characterized by clear cell morphology, but differs from conventional clear cell carcinoma (ccRCC) for its indolent clinical behavior and genetic background. The differential diagnosis between the two is based on histology and immunohistochemistry (IHC). Methods: We performed a comparative case-control histological, IHC, and genetic analysis by next generation sequencing (NGS), to point out the differences in 10 cases of cctpRCC, and six controls of ccRCC with low stage and grade. Results: All 16 cases showed the IHC profile with cytokeratin 7, racemase, and carbonic anhydrase IX expected for the histological features of each tumor type. By contrast, the NGS mutation analysis that covered 207 amplicons of 50 oncogenes or tumor suppressor genes provided conflicting results. Among the 10 cctpRCC cases, eight (80%) were wild type for all of the genes in the panel, while two (20%) harbored VHL mutations typical of ccRCC. Three of the six (50%) ccRCC control cases showed expected VHL mutations; two (33%) harbored pathogenic mutations in the p53 or the CKIT genes; and one (16%) was wild type. Conclusion: We can assume that histology and ICH are not sufficient for a definitive diagnosis of cctpRCC or ccRCC. Although with a panel covering 50 genes, we found that 80% of cctpRCC were genetically silent; thus, suggesting an indolent biology of these tumors. The differential diagnosis between ccptRCC and ccRCC for the choice of the best therapeutic strategy likely requires the comprehensive evaluation of histology, IHC, and at least VHL mutations. MDPI 2020-02-23 /pmc/articles/PMC7168142/ /pubmed/32102250 http://dx.doi.org/10.3390/diagnostics10020123 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Giunchi, Francesca
Franceschini, Tania
Gruppioni, Elisa
Altimari, Annalisa
Capizzi, Elisa
Massari, Francesco
Schiavina, Riccardo
Brunelli, Matteo
Martignoni, Guido
Fiorentino, Michelangelo
Similarities and Differences between Clear Cell Tubulo-Papillary and Conventional Clear Cell Renal Cell Carcinoma: A Comparative Phenotypical and Mutational Analysis
title Similarities and Differences between Clear Cell Tubulo-Papillary and Conventional Clear Cell Renal Cell Carcinoma: A Comparative Phenotypical and Mutational Analysis
title_full Similarities and Differences between Clear Cell Tubulo-Papillary and Conventional Clear Cell Renal Cell Carcinoma: A Comparative Phenotypical and Mutational Analysis
title_fullStr Similarities and Differences between Clear Cell Tubulo-Papillary and Conventional Clear Cell Renal Cell Carcinoma: A Comparative Phenotypical and Mutational Analysis
title_full_unstemmed Similarities and Differences between Clear Cell Tubulo-Papillary and Conventional Clear Cell Renal Cell Carcinoma: A Comparative Phenotypical and Mutational Analysis
title_short Similarities and Differences between Clear Cell Tubulo-Papillary and Conventional Clear Cell Renal Cell Carcinoma: A Comparative Phenotypical and Mutational Analysis
title_sort similarities and differences between clear cell tubulo-papillary and conventional clear cell renal cell carcinoma: a comparative phenotypical and mutational analysis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168142/
https://www.ncbi.nlm.nih.gov/pubmed/32102250
http://dx.doi.org/10.3390/diagnostics10020123
work_keys_str_mv AT giunchifrancesca similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis
AT franceschinitania similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis
AT gruppionielisa similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis
AT altimariannalisa similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis
AT capizzielisa similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis
AT massarifrancesco similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis
AT schiavinariccardo similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis
AT brunellimatteo similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis
AT martignoniguido similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis
AT fiorentinomichelangelo similaritiesanddifferencesbetweenclearcelltubulopapillaryandconventionalclearcellrenalcellcarcinomaacomparativephenotypicalandmutationalanalysis