title: Mutations in the Mitochondrial ND1 Gene Are Associated with Postoperative Prognosis of Localized Renal Cell Carcinoma.
abstract: We analyzed mutations in the mitochondrialND1gene 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,ND1sequencing 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), andND1mutations (p= 0.0006). Multivariate analysis using these factors revealed that mutations inND1were significantly associated with the 5-year RFS rate (p= 0.0044). These results suggest a strong correlation between the presence ofND1mutations in cancer tissue and postoperative recurrence of localized RCC in Japanese patients.
authors.affiliation: Department of Urology, Tokai University School of Medicine, Kanagawa, Isehara 259-1193, Japan. qblong888@gmail.com.
authors.forename: Hakushi
authors.initials: H
authors.lastname: Kim
authors.affiliation: Department of Clinical Pharmacology, Tokai University School of Medicine, Kanagawa, Isehara 259-1193, Japan. komiyama@tokai-u.jp.
authors.forename: Tomoyoshi
authors.initials: T
authors.lastname: Komiyama
authors.affiliation: Department of Pathology, Tokai University School of Medicine, Kanagawa, Isehara 259-1193, Japan. cisophia.ci@gmail.com.
authors.forename: Chie
authors.initials: C
authors.lastname: Inomoto
authors.affiliation: Support Center for Medical Research and Education, Tokai University, Kanagawa, Isehara 259-1193, Japan. kamiguchi@is.icc.u-tokai.ac.jp.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kamiguchi
authors.affiliation: Department of Pathology, Tokai University School of Medicine, Kanagawa, Isehara 259-1193, Japan. h-kaji@is.icc.u-tokai.ac.jp.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kajiwara
authors.affiliation: Department of Clinical Pharmacology, Tokai University School of Medicine, Kanagawa, Isehara 259-1193, Japan. hkobayas@is.icc.u-tokai.ac.jp.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kobayashi
authors.affiliation: Department of Pathology, Tokai University School of Medicine, Kanagawa, Isehara 259-1193, Japan. naoya@is.icc.u-tokai.ac.jp.
authors.forename: Naoya
authors.initials: N
authors.lastname: Nakamura
authors.affiliation: Department of Urology, Tokai University School of Medicine, Kanagawa, Isehara 259-1193, Japan. terachit@is.icc.u-tokai.ac.jp.
authors.forename: Toshiro
authors.initials: T
authors.lastname: Terachi
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics / Q000473:pathology*; D005260:Female; D050259:Genes, Mitochondrial / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology; D008297:Male; D015999:Multivariate Analysis; D009154:Mutation; D009364:Neoplasm Recurrence, Local / Q000235:genetics / Q000473:pathology; D016133:Polymerase Chain Reaction; D011379:Prognosis; D015996:Survival Rate
keywords: ND1; heteroplasmy; mitochondrial DNA; nucleotide differentiation index; polymorphism; prognostic factor; renal cell carcinoma