Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases
(1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohor...
Ausführliche Beschreibung
Autor*in: |
Kristyna Prochazkova [verfasserIn] Nikola Ptakova [verfasserIn] Reza Alaghehbandan [verfasserIn] Sean R. Williamson [verfasserIn] Tomáš Vaněček [verfasserIn] Josef Vodicka [verfasserIn] Vladislav Treska [verfasserIn] Joanna Rogala [verfasserIn] Kristyna Pivovarcikova [verfasserIn] Kvetoslava Michalova [verfasserIn] Maryna Slisarenko [verfasserIn] Milan Hora [verfasserIn] Michal Michal [verfasserIn] Ondrej Hes [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2021 |
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Übergeordnetes Werk: |
In: Cancers - MDPI AG, 2010, 13(2021), 23, p 5906 |
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Übergeordnetes Werk: |
volume:13 ; year:2021 ; number:23, p 5906 |
Links: |
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DOI / URN: |
10.3390/cancers13235906 |
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Katalog-ID: |
DOAJ062653288 |
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10.3390/cancers13235906 doi (DE-627)DOAJ062653288 (DE-599)DOAJ6d53cc0568374d84a1b86244537ae9de DE-627 ger DE-627 rakwb eng RC254-282 Kristyna Prochazkova verfasserin aut Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. Such mutational changes may be responsible for suboptimal treatment outcomes in targeted therapy settings. clear cell renal cell carcinoma intra-tumoral heterogeneity inter-tumoral heterogeneity inter-metastatic heterogeneity Neoplasms. Tumors. Oncology. Including cancer and carcinogens Nikola Ptakova verfasserin aut Reza Alaghehbandan verfasserin aut Sean R. Williamson verfasserin aut Tomáš Vaněček verfasserin aut Josef Vodicka verfasserin aut Vladislav Treska verfasserin aut Joanna Rogala verfasserin aut Kristyna Pivovarcikova verfasserin aut Kvetoslava Michalova verfasserin aut Maryna Slisarenko verfasserin aut Milan Hora verfasserin aut Michal Michal verfasserin aut Ondrej Hes verfasserin aut In Cancers MDPI AG, 2010 13(2021), 23, p 5906 (DE-627)614095670 (DE-600)2527080-1 20726694 nnns volume:13 year:2021 number:23, p 5906 https://doi.org/10.3390/cancers13235906 kostenfrei https://doaj.org/article/6d53cc0568374d84a1b86244537ae9de kostenfrei https://www.mdpi.com/2072-6694/13/23/5906 kostenfrei https://doaj.org/toc/2072-6694 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 13 2021 23, p 5906 |
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10.3390/cancers13235906 doi (DE-627)DOAJ062653288 (DE-599)DOAJ6d53cc0568374d84a1b86244537ae9de DE-627 ger DE-627 rakwb eng RC254-282 Kristyna Prochazkova verfasserin aut Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. Such mutational changes may be responsible for suboptimal treatment outcomes in targeted therapy settings. clear cell renal cell carcinoma intra-tumoral heterogeneity inter-tumoral heterogeneity inter-metastatic heterogeneity Neoplasms. Tumors. Oncology. Including cancer and carcinogens Nikola Ptakova verfasserin aut Reza Alaghehbandan verfasserin aut Sean R. Williamson verfasserin aut Tomáš Vaněček verfasserin aut Josef Vodicka verfasserin aut Vladislav Treska verfasserin aut Joanna Rogala verfasserin aut Kristyna Pivovarcikova verfasserin aut Kvetoslava Michalova verfasserin aut Maryna Slisarenko verfasserin aut Milan Hora verfasserin aut Michal Michal verfasserin aut Ondrej Hes verfasserin aut In Cancers MDPI AG, 2010 13(2021), 23, p 5906 (DE-627)614095670 (DE-600)2527080-1 20726694 nnns volume:13 year:2021 number:23, p 5906 https://doi.org/10.3390/cancers13235906 kostenfrei https://doaj.org/article/6d53cc0568374d84a1b86244537ae9de kostenfrei https://www.mdpi.com/2072-6694/13/23/5906 kostenfrei https://doaj.org/toc/2072-6694 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 13 2021 23, p 5906 |
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10.3390/cancers13235906 doi (DE-627)DOAJ062653288 (DE-599)DOAJ6d53cc0568374d84a1b86244537ae9de DE-627 ger DE-627 rakwb eng RC254-282 Kristyna Prochazkova verfasserin aut Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. Such mutational changes may be responsible for suboptimal treatment outcomes in targeted therapy settings. clear cell renal cell carcinoma intra-tumoral heterogeneity inter-tumoral heterogeneity inter-metastatic heterogeneity Neoplasms. Tumors. Oncology. Including cancer and carcinogens Nikola Ptakova verfasserin aut Reza Alaghehbandan verfasserin aut Sean R. Williamson verfasserin aut Tomáš Vaněček verfasserin aut Josef Vodicka verfasserin aut Vladislav Treska verfasserin aut Joanna Rogala verfasserin aut Kristyna Pivovarcikova verfasserin aut Kvetoslava Michalova verfasserin aut Maryna Slisarenko verfasserin aut Milan Hora verfasserin aut Michal Michal verfasserin aut Ondrej Hes verfasserin aut In Cancers MDPI AG, 2010 13(2021), 23, p 5906 (DE-627)614095670 (DE-600)2527080-1 20726694 nnns volume:13 year:2021 number:23, p 5906 https://doi.org/10.3390/cancers13235906 kostenfrei https://doaj.org/article/6d53cc0568374d84a1b86244537ae9de kostenfrei https://www.mdpi.com/2072-6694/13/23/5906 kostenfrei https://doaj.org/toc/2072-6694 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 13 2021 23, p 5906 |
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10.3390/cancers13235906 doi (DE-627)DOAJ062653288 (DE-599)DOAJ6d53cc0568374d84a1b86244537ae9de DE-627 ger DE-627 rakwb eng RC254-282 Kristyna Prochazkova verfasserin aut Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. Such mutational changes may be responsible for suboptimal treatment outcomes in targeted therapy settings. clear cell renal cell carcinoma intra-tumoral heterogeneity inter-tumoral heterogeneity inter-metastatic heterogeneity Neoplasms. Tumors. Oncology. Including cancer and carcinogens Nikola Ptakova verfasserin aut Reza Alaghehbandan verfasserin aut Sean R. Williamson verfasserin aut Tomáš Vaněček verfasserin aut Josef Vodicka verfasserin aut Vladislav Treska verfasserin aut Joanna Rogala verfasserin aut Kristyna Pivovarcikova verfasserin aut Kvetoslava Michalova verfasserin aut Maryna Slisarenko verfasserin aut Milan Hora verfasserin aut Michal Michal verfasserin aut Ondrej Hes verfasserin aut In Cancers MDPI AG, 2010 13(2021), 23, p 5906 (DE-627)614095670 (DE-600)2527080-1 20726694 nnns volume:13 year:2021 number:23, p 5906 https://doi.org/10.3390/cancers13235906 kostenfrei https://doaj.org/article/6d53cc0568374d84a1b86244537ae9de kostenfrei https://www.mdpi.com/2072-6694/13/23/5906 kostenfrei https://doaj.org/toc/2072-6694 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 13 2021 23, p 5906 |
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10.3390/cancers13235906 doi (DE-627)DOAJ062653288 (DE-599)DOAJ6d53cc0568374d84a1b86244537ae9de DE-627 ger DE-627 rakwb eng RC254-282 Kristyna Prochazkova verfasserin aut Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier (1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. Such mutational changes may be responsible for suboptimal treatment outcomes in targeted therapy settings. clear cell renal cell carcinoma intra-tumoral heterogeneity inter-tumoral heterogeneity inter-metastatic heterogeneity Neoplasms. Tumors. Oncology. Including cancer and carcinogens Nikola Ptakova verfasserin aut Reza Alaghehbandan verfasserin aut Sean R. Williamson verfasserin aut Tomáš Vaněček verfasserin aut Josef Vodicka verfasserin aut Vladislav Treska verfasserin aut Joanna Rogala verfasserin aut Kristyna Pivovarcikova verfasserin aut Kvetoslava Michalova verfasserin aut Maryna Slisarenko verfasserin aut Milan Hora verfasserin aut Michal Michal verfasserin aut Ondrej Hes verfasserin aut In Cancers MDPI AG, 2010 13(2021), 23, p 5906 (DE-627)614095670 (DE-600)2527080-1 20726694 nnns volume:13 year:2021 number:23, p 5906 https://doi.org/10.3390/cancers13235906 kostenfrei https://doaj.org/article/6d53cc0568374d84a1b86244537ae9de kostenfrei https://www.mdpi.com/2072-6694/13/23/5906 kostenfrei https://doaj.org/toc/2072-6694 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 13 2021 23, p 5906 |
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Kristyna Prochazkova @@aut@@ Nikola Ptakova @@aut@@ Reza Alaghehbandan @@aut@@ Sean R. Williamson @@aut@@ Tomáš Vaněček @@aut@@ Josef Vodicka @@aut@@ Vladislav Treska @@aut@@ Joanna Rogala @@aut@@ Kristyna Pivovarcikova @@aut@@ Kvetoslava Michalova @@aut@@ Maryna Slisarenko @@aut@@ Milan Hora @@aut@@ Michal Michal @@aut@@ Ondrej Hes @@aut@@ |
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2021-01-01T00:00:00Z |
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englisch |
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RC254-282 Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases clear cell renal cell carcinoma intra-tumoral heterogeneity inter-tumoral heterogeneity inter-metastatic heterogeneity |
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Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases |
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Kristyna Prochazkova Nikola Ptakova Reza Alaghehbandan Sean R. Williamson Tomáš Vaněček Josef Vodicka Vladislav Treska Joanna Rogala Kristyna Pivovarcikova Kvetoslava Michalova Maryna Slisarenko Milan Hora Michal Michal Ondrej Hes |
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mutation profile variability in the primary tumor and multiple pulmonary metastases of clear cell renal cell carcinoma. a review of the literature and analysis of four metastatic cases |
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Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases |
abstract |
(1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. Such mutational changes may be responsible for suboptimal treatment outcomes in targeted therapy settings. |
abstractGer |
(1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. Such mutational changes may be responsible for suboptimal treatment outcomes in targeted therapy settings. |
abstract_unstemmed |
(1) Background: There are limited data concerning inter-tumoral and inter-metastatic heterogeneity in clear cell renal cell carcinoma (CCRCC). The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. Such mutational changes may be responsible for suboptimal treatment outcomes in targeted therapy settings. |
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Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases |
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The aim of our study was to review published data and to examine mutation profile variability in primary and multiple pulmonary metastases (PMs) in our cohort of four patients with metastatic CCRCC. (2) Methods: Four patients were enrolled in this study. The clinical characteristics, types of surgeries, histopathologic results, immunohistochemical and genetic evaluations of corresponding primary tumor and PMs, and follow-up data were recorded. (3) Results: In our series, the most commonly mutated genes were those in the canonically dysregulated VHL pathway, which were detected in both primary tumors and corresponding metastasis. There were genetic profile differences between primary and metastatic tumors, as well as among particular metastases in one patient. (4) Conclusions: CCRCC shows heterogeneity between the primary tumor and its metastasis. 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