Abstract
We analyzed mutations in the mitochondrial ND1 gene to determine their association with clinicopathological parameters and postoperative recurrence of renal cell carcinoma (RCC) in Japanese patients. Among 62 RCC cases for which tumor pathology was confirmed by histopathology, ND1 sequencing revealed the presence of 30 mutation sites in 19 cases. Most mutations were heteroplasmic, with 16 of 19 cases harboring one or more heteroplasmic sites. Additionally, 12 sites had amino acid mutations, which were frequent in 10 of the cases. The 5-year recurrence-free survival (RFS) rate was significantly worse in patients with tumors >40 mm in diameter (p = 0.0091), pathological T (pT) stage ≥3 (p = 0.0122), Fuhrman nuclear atypia grade ≥III (p = 0.0070), and ND1 mutations (p = 0.0006). Multivariate analysis using these factors revealed that mutations in ND1 were significantly associated with the 5-year RFS rate (p = 0.0044). These results suggest a strong correlation between the presence of ND1 mutations in cancer tissue and postoperative recurrence of localized RCC in Japanese patients.
Highlights
Kidney cancer is globally the 9th and 14th most common malignant tumor among males and females, respectively [1]
We determined that the NST was 0.005, indicating that renal cell carcinoma (RCC) was significantly associated with mutations in the mitochondrial NADH dehydrogenase subunit 1 (ND1) gene
The independence of factors that influenced recurrence-free survival (RFS) and CSS was examined. p values less than 0.05 were considered as statistically significant. This is the first study to demonstrate a relationship between mutations in ND1 and postoperative recurrence of RCC in Japanese patients
Summary
Kidney cancer is globally the 9th and 14th most common malignant tumor among males and females, respectively [1]. Renal cell carcinoma (RCC) constitutes 85%–90% of all cancers of the kidney [2,3]. There is a 1.5:1 predominance of new RCC cases in males over females, and the peak age of onset is between 60 and 70 years [4]. The advent and widespread use of abdominal imaging techniques, such as abdominal ultrasonography and computed tomography, has led to the increased frequency of the diagnosis of small asymptomatic RCCs, which account for about half of all newly diagnosed cases [5]. Despite the increase in the number of new cases, the mortality rate due to RCC has, decreased [6,7]. Even in patients with localized RCC that has been resected with curative surgery, such as total or partial nephrectomy, the relapse rate is about 20%–40%, with progression to metastatic RCC (mRCC) [8]
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