Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral Center
Although age younger than 46 years has been an independent criterion for genetic testing in hereditary renal cell carcinoma (hRCC), there is a lack of evidence in the literature. This study aims to analyze whether a 46-year-old cut-off should be considered an independent genetic testing criterion a...
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| Format: | Article |
| Language: | English |
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Codon Publications
2023-08-01
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| Series: | Journal of Kidney Cancer and VHL |
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| Online Access: | https://jkcvhl.com/~jkcvhlco/index.php/jkcvhl/article/view/242 |
| _version_ | 1797260017607376896 |
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| author | Tomás Carminatti Patricio Aitor García Marchiñena Ignacio Pablo Tobia González Valeria de Miguel Marcelo Martín Serra Pablo Germán Kalfayan Alberto Manuel Jurado |
| author_facet | Tomás Carminatti Patricio Aitor García Marchiñena Ignacio Pablo Tobia González Valeria de Miguel Marcelo Martín Serra Pablo Germán Kalfayan Alberto Manuel Jurado |
| author_sort | Tomás Carminatti |
| collection | DOAJ |
| description |
Although age younger than 46 years has been an independent criterion for genetic testing in hereditary renal cell carcinoma (hRCC), there is a lack of evidence in the literature. This study aims to analyze whether a 46-year-old cut-off should be considered an independent genetic testing criterion and to elucidate risk factors predicting a positive genetic test. Observational study from January 2010 to December 2021. All patients under 46 years with a non-metastatic kidney mass and surgical indication were included. We assume patients who relapse in the first 5 years of follow-up could have a positive genetic test. As risk factors for relapse, ergo positive genetic test, we consider those patients who presented multifocal, bilateral, or previous renal tumor. Of 2,232 nephrectomies for kidney cancer, 301 patients met the inclusion criteria. The median follow-up was 60 months (IQR 29-101). The estimated five-year RFS was 94.4% (95% CI 91.3-97.5). Tumor size, previous renal tumor, multifocality, bilaterality, and pT3 or pT4 stage were independent recurrence risk factors. Genetic testing was performed on 24 patients. 10 patients had pathogenic variants in the test, 8 of which recurred during their life. 46-year-old cut-off has shown low performance in genetic testing. Therefore, we recommend that it be considered only if other hRCC risk criteria exist. Multifocality, bilaterality, and previous renal tumor could predict a positive genetic test.
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| first_indexed | 2024-03-08T03:36:21Z |
| format | Article |
| id | doaj.art-90a348a98b0548cf9b1f794e3270a66e |
| institution | Directory Open Access Journal |
| issn | 2203-5826 |
| language | English |
| last_indexed | 2024-04-24T23:18:38Z |
| publishDate | 2023-08-01 |
| publisher | Codon Publications |
| record_format | Article |
| series | Journal of Kidney Cancer and VHL |
| spelling | doaj.art-90a348a98b0548cf9b1f794e3270a66e2024-03-17T05:07:46ZengCodon PublicationsJournal of Kidney Cancer and VHL2203-58262023-08-0110310.15586/jkcvhl.v10i3.242Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral CenterTomás Carminatti0Patricio Aitor García Marchiñena1Ignacio Pablo Tobia González2Valeria de Miguel3Marcelo Martín Serra4Pablo Germán Kalfayan5Alberto Manuel Jurado6Urology Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.Urology Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina; VHL unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.Urology Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.VHL unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.VHL unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.VHL unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.Urology Department, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina; VHL unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina. Although age younger than 46 years has been an independent criterion for genetic testing in hereditary renal cell carcinoma (hRCC), there is a lack of evidence in the literature. This study aims to analyze whether a 46-year-old cut-off should be considered an independent genetic testing criterion and to elucidate risk factors predicting a positive genetic test. Observational study from January 2010 to December 2021. All patients under 46 years with a non-metastatic kidney mass and surgical indication were included. We assume patients who relapse in the first 5 years of follow-up could have a positive genetic test. As risk factors for relapse, ergo positive genetic test, we consider those patients who presented multifocal, bilateral, or previous renal tumor. Of 2,232 nephrectomies for kidney cancer, 301 patients met the inclusion criteria. The median follow-up was 60 months (IQR 29-101). The estimated five-year RFS was 94.4% (95% CI 91.3-97.5). Tumor size, previous renal tumor, multifocality, bilaterality, and pT3 or pT4 stage were independent recurrence risk factors. Genetic testing was performed on 24 patients. 10 patients had pathogenic variants in the test, 8 of which recurred during their life. 46-year-old cut-off has shown low performance in genetic testing. Therefore, we recommend that it be considered only if other hRCC risk criteria exist. Multifocality, bilaterality, and previous renal tumor could predict a positive genetic test. https://jkcvhl.com/~jkcvhlco/index.php/jkcvhl/article/view/242Hereditary renal cell carcinomagenetic testingearly-onset renal cell carcinomaVHLAge criteria in Hereditary renal cell carcinoma |
| spellingShingle | Tomás Carminatti Patricio Aitor García Marchiñena Ignacio Pablo Tobia González Valeria de Miguel Marcelo Martín Serra Pablo Germán Kalfayan Alberto Manuel Jurado Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral Center Journal of Kidney Cancer and VHL Hereditary renal cell carcinoma genetic testing early-onset renal cell carcinoma VHL Age criteria in Hereditary renal cell carcinoma |
| title | Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral Center |
| title_full | Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral Center |
| title_fullStr | Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral Center |
| title_full_unstemmed | Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral Center |
| title_short | Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral Center |
| title_sort | hereditary renal cell carcinoma is age an independent criterion for genetic testing a large cohort from a latin america referral center |
| topic | Hereditary renal cell carcinoma genetic testing early-onset renal cell carcinoma VHL Age criteria in Hereditary renal cell carcinoma |
| url | https://jkcvhl.com/~jkcvhlco/index.php/jkcvhl/article/view/242 |
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