Clinicopathological and Body Composition Analysis of VHL and TTN Gene Mutations in Clear Cell Renal Cell Carcinoma: An Exploratory Study
Background: The Cancer Genome Atlas (TCGA) Research Network revealed numerous clear cell renal cell carcinoma (ccRCC) gene mutations among which titin (TTN). The link between excessive amounts of visceral adipose tissue (VAT) and ccRCC pathogenesis is known. A relationship between VHL and TTN gene m...
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MDPI AG
2022-09-01
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| Series: | Applied Sciences |
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| author | Federico Greco Alessandro Tafuri Rosario Francesco Grasso Bruno Beomonte Zobel Carlo Augusto Mallio |
| author_facet | Federico Greco Alessandro Tafuri Rosario Francesco Grasso Bruno Beomonte Zobel Carlo Augusto Mallio |
| author_sort | Federico Greco |
| collection | DOAJ |
| description | Background: The Cancer Genome Atlas (TCGA) Research Network revealed numerous clear cell renal cell carcinoma (ccRCC) gene mutations among which titin (TTN). The link between excessive amounts of visceral adipose tissue (VAT) and ccRCC pathogenesis is known. A relationship between VHL and TTN gene mutations and a CT-derived estimation of body composition in ccRCC patients has been evaluated. Methods: We retrospectively assessed patients from the TCGA-kidney renal clear cell carcinoma (KIRC) database for evaluation of clinicopathological and body composition analysis of ccRCC VHL and TTN gene mutations. Results: Gene expression levels and survival were assessed on a large cohort of 483 patients and 533 tumor samples. A statistically significant difference of VHL expression reduction in primary tumor (<i>p</i> < 0.0001) and a TTN expression increase in primary tumor (<i>p</i> < 0.0001) was shown. TTN high expression levels was associated with statistically significant lower KIRC patient survival at eight years (<i>p</i> < 0.05). For body composition analysis, we included 54 male patients divided into two groups: ccRCC-VHL (<i>n</i> = 41) and ccRCC-TTN (<i>n</i> = 13) groups. Statistically significant differences between the two groups were obtained for total adipose tissue (TAT) (<i>p</i> < 0.01), VAT (<i>p</i> < 0.05), subcutaneous adipose tissue (SAT) (<i>p</i> < 0.05) and total abdominal muscle (TAM) (<i>p</i> < 0.05) areas. Conclusion: This study demonstrates a link between ccRCC TTN gene mutation and shorter patient survival. The reduction of the analyzed tissues might be a risk of cancer cachexia in ccRCC patients with TTN gene mutation. |
| first_indexed | 2024-03-09T22:06:35Z |
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| last_indexed | 2024-03-09T22:06:35Z |
| publishDate | 2022-09-01 |
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| spelling | doaj.art-7112756c63a244638a3bdf8bc71e37352023-11-23T19:40:40ZengMDPI AGApplied Sciences2076-34172022-09-011219950210.3390/app12199502Clinicopathological and Body Composition Analysis of VHL and TTN Gene Mutations in Clear Cell Renal Cell Carcinoma: An Exploratory StudyFederico Greco0Alessandro Tafuri1Rosario Francesco Grasso2Bruno Beomonte Zobel3Carlo Augusto Mallio4U.O.C. Diagnostica per Immagini Territoriale Aziendale, Cittadella Della Salute Azienda Sanitaria Locale di Lecce, Piazza Filippo Bottazzi, 73100 Lecce, ItalyDepartment of Urology, “Vito Fazzi” Hospital, Piazza Filippo Muratore, 1, 73100 Lecce, ItalyUnit of Diagnostic Imaging, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo, 21, 00128 Rome, ItalyUnit of Diagnostic Imaging, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo, 21, 00128 Rome, ItalyUnit of Diagnostic Imaging, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo, 21, 00128 Rome, ItalyBackground: The Cancer Genome Atlas (TCGA) Research Network revealed numerous clear cell renal cell carcinoma (ccRCC) gene mutations among which titin (TTN). The link between excessive amounts of visceral adipose tissue (VAT) and ccRCC pathogenesis is known. A relationship between VHL and TTN gene mutations and a CT-derived estimation of body composition in ccRCC patients has been evaluated. Methods: We retrospectively assessed patients from the TCGA-kidney renal clear cell carcinoma (KIRC) database for evaluation of clinicopathological and body composition analysis of ccRCC VHL and TTN gene mutations. Results: Gene expression levels and survival were assessed on a large cohort of 483 patients and 533 tumor samples. A statistically significant difference of VHL expression reduction in primary tumor (<i>p</i> < 0.0001) and a TTN expression increase in primary tumor (<i>p</i> < 0.0001) was shown. TTN high expression levels was associated with statistically significant lower KIRC patient survival at eight years (<i>p</i> < 0.05). For body composition analysis, we included 54 male patients divided into two groups: ccRCC-VHL (<i>n</i> = 41) and ccRCC-TTN (<i>n</i> = 13) groups. Statistically significant differences between the two groups were obtained for total adipose tissue (TAT) (<i>p</i> < 0.01), VAT (<i>p</i> < 0.05), subcutaneous adipose tissue (SAT) (<i>p</i> < 0.05) and total abdominal muscle (TAM) (<i>p</i> < 0.05) areas. Conclusion: This study demonstrates a link between ccRCC TTN gene mutation and shorter patient survival. The reduction of the analyzed tissues might be a risk of cancer cachexia in ccRCC patients with TTN gene mutation.https://www.mdpi.com/2076-3417/12/19/9502adipose tissueclear cell renal cell carcinomakidney cancermuscle massTTNVHL |
| spellingShingle | Federico Greco Alessandro Tafuri Rosario Francesco Grasso Bruno Beomonte Zobel Carlo Augusto Mallio Clinicopathological and Body Composition Analysis of VHL and TTN Gene Mutations in Clear Cell Renal Cell Carcinoma: An Exploratory Study Applied Sciences adipose tissue clear cell renal cell carcinoma kidney cancer muscle mass TTN VHL |
| title | Clinicopathological and Body Composition Analysis of VHL and TTN Gene Mutations in Clear Cell Renal Cell Carcinoma: An Exploratory Study |
| title_full | Clinicopathological and Body Composition Analysis of VHL and TTN Gene Mutations in Clear Cell Renal Cell Carcinoma: An Exploratory Study |
| title_fullStr | Clinicopathological and Body Composition Analysis of VHL and TTN Gene Mutations in Clear Cell Renal Cell Carcinoma: An Exploratory Study |
| title_full_unstemmed | Clinicopathological and Body Composition Analysis of VHL and TTN Gene Mutations in Clear Cell Renal Cell Carcinoma: An Exploratory Study |
| title_short | Clinicopathological and Body Composition Analysis of VHL and TTN Gene Mutations in Clear Cell Renal Cell Carcinoma: An Exploratory Study |
| title_sort | clinicopathological and body composition analysis of vhl and ttn gene mutations in clear cell renal cell carcinoma an exploratory study |
| topic | adipose tissue clear cell renal cell carcinoma kidney cancer muscle mass TTN VHL |
| url | https://www.mdpi.com/2076-3417/12/19/9502 |
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