Detection of mitochondrial DNA alterations in plasma of malignant melanoma patients

Hiroya Takeuchi, Akihide Fujimoto, Dave S B Hoon

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Genetic changes in mitochondrial DNA (mtDNA) have been detected in a variety of pathologic conditions including cancer. We hypothesized that malignant melanoma has genetic alterations in the displacement loop (D-loop) region and that these mtDNA alterations can be detected in blood as a circulating DNA melanoma marker. D-loop region from 20 melanoma cell lines, 12 metastatic melanoma specimens, and corresponding lymphocytes and plasma samples were sequenced using the CEQ 8000 XL Genetic Analysis System (Beckman Coulter). Nine of 20 (45%) melanoma cell lines and 5 of 12 (42%) melanoma specimens contained somatic mutations in the D-loop region of mtDNA. DNA alterations in the polycytosine tract (C-tract) of D-loop were detected in 6 of 20 (30%) cell lines and 2 of 12 (17%) specimens. Two of five paired plasma samples (40%) contained the same mutations as did melanoma specimens. In a comparison of lymphocytes and plasma of melanoma patients, 9 of 44 paired plasma samples (20%) contained at least one mutation compared to corresponding lymphocytes. Somatic mutations in the D-loop region of tumor and paired plasma did not correlate with the clinicopathological characteristics. However, circulating mtDNA alterations were more frequent in advanced disease. Studies indicate that circulating mtDNA mutations in the plasma of melanoma patients can be detected.

Original languageEnglish
Pages (from-to)50-54
Number of pages5
JournalAnnals of the New York Academy of Sciences
Volume1022
DOIs
Publication statusPublished - 2004
Externally publishedYes

Fingerprint

Mitochondrial DNA
Melanoma
Plasmas
Lymphocytes
Cells
Mutation
Cell Line
DNA
Plasma
Alteration
Tumors
Blood
Genetic Markers
Neoplasms

Keywords

  • D-loop
  • Melanoma
  • Mitochondria
  • Mutation

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Detection of mitochondrial DNA alterations in plasma of malignant melanoma patients. / Takeuchi, Hiroya; Fujimoto, Akihide; Hoon, Dave S B.

In: Annals of the New York Academy of Sciences, Vol. 1022, 2004, p. 50-54.

Research output: Contribution to journalArticle

Takeuchi, Hiroya ; Fujimoto, Akihide ; Hoon, Dave S B. / Detection of mitochondrial DNA alterations in plasma of malignant melanoma patients. In: Annals of the New York Academy of Sciences. 2004 ; Vol. 1022. pp. 50-54.
@article{ab80d197d43c4a0ab7b79339947e2bfd,
title = "Detection of mitochondrial DNA alterations in plasma of malignant melanoma patients",
abstract = "Genetic changes in mitochondrial DNA (mtDNA) have been detected in a variety of pathologic conditions including cancer. We hypothesized that malignant melanoma has genetic alterations in the displacement loop (D-loop) region and that these mtDNA alterations can be detected in blood as a circulating DNA melanoma marker. D-loop region from 20 melanoma cell lines, 12 metastatic melanoma specimens, and corresponding lymphocytes and plasma samples were sequenced using the CEQ 8000 XL Genetic Analysis System (Beckman Coulter). Nine of 20 (45{\%}) melanoma cell lines and 5 of 12 (42{\%}) melanoma specimens contained somatic mutations in the D-loop region of mtDNA. DNA alterations in the polycytosine tract (C-tract) of D-loop were detected in 6 of 20 (30{\%}) cell lines and 2 of 12 (17{\%}) specimens. Two of five paired plasma samples (40{\%}) contained the same mutations as did melanoma specimens. In a comparison of lymphocytes and plasma of melanoma patients, 9 of 44 paired plasma samples (20{\%}) contained at least one mutation compared to corresponding lymphocytes. Somatic mutations in the D-loop region of tumor and paired plasma did not correlate with the clinicopathological characteristics. However, circulating mtDNA alterations were more frequent in advanced disease. Studies indicate that circulating mtDNA mutations in the plasma of melanoma patients can be detected.",
keywords = "D-loop, Melanoma, Mitochondria, Mutation",
author = "Hiroya Takeuchi and Akihide Fujimoto and Hoon, {Dave S B}",
year = "2004",
doi = "10.1196/annals.1318.009",
language = "English",
volume = "1022",
pages = "50--54",
journal = "Annals of the New York Academy of Sciences",
issn = "0077-8923",
publisher = "Wiley-Blackwell",

}

TY - JOUR

T1 - Detection of mitochondrial DNA alterations in plasma of malignant melanoma patients

AU - Takeuchi, Hiroya

AU - Fujimoto, Akihide

AU - Hoon, Dave S B

PY - 2004

Y1 - 2004

N2 - Genetic changes in mitochondrial DNA (mtDNA) have been detected in a variety of pathologic conditions including cancer. We hypothesized that malignant melanoma has genetic alterations in the displacement loop (D-loop) region and that these mtDNA alterations can be detected in blood as a circulating DNA melanoma marker. D-loop region from 20 melanoma cell lines, 12 metastatic melanoma specimens, and corresponding lymphocytes and plasma samples were sequenced using the CEQ 8000 XL Genetic Analysis System (Beckman Coulter). Nine of 20 (45%) melanoma cell lines and 5 of 12 (42%) melanoma specimens contained somatic mutations in the D-loop region of mtDNA. DNA alterations in the polycytosine tract (C-tract) of D-loop were detected in 6 of 20 (30%) cell lines and 2 of 12 (17%) specimens. Two of five paired plasma samples (40%) contained the same mutations as did melanoma specimens. In a comparison of lymphocytes and plasma of melanoma patients, 9 of 44 paired plasma samples (20%) contained at least one mutation compared to corresponding lymphocytes. Somatic mutations in the D-loop region of tumor and paired plasma did not correlate with the clinicopathological characteristics. However, circulating mtDNA alterations were more frequent in advanced disease. Studies indicate that circulating mtDNA mutations in the plasma of melanoma patients can be detected.

AB - Genetic changes in mitochondrial DNA (mtDNA) have been detected in a variety of pathologic conditions including cancer. We hypothesized that malignant melanoma has genetic alterations in the displacement loop (D-loop) region and that these mtDNA alterations can be detected in blood as a circulating DNA melanoma marker. D-loop region from 20 melanoma cell lines, 12 metastatic melanoma specimens, and corresponding lymphocytes and plasma samples were sequenced using the CEQ 8000 XL Genetic Analysis System (Beckman Coulter). Nine of 20 (45%) melanoma cell lines and 5 of 12 (42%) melanoma specimens contained somatic mutations in the D-loop region of mtDNA. DNA alterations in the polycytosine tract (C-tract) of D-loop were detected in 6 of 20 (30%) cell lines and 2 of 12 (17%) specimens. Two of five paired plasma samples (40%) contained the same mutations as did melanoma specimens. In a comparison of lymphocytes and plasma of melanoma patients, 9 of 44 paired plasma samples (20%) contained at least one mutation compared to corresponding lymphocytes. Somatic mutations in the D-loop region of tumor and paired plasma did not correlate with the clinicopathological characteristics. However, circulating mtDNA alterations were more frequent in advanced disease. Studies indicate that circulating mtDNA mutations in the plasma of melanoma patients can be detected.

KW - D-loop

KW - Melanoma

KW - Mitochondria

KW - Mutation

UR - http://www.scopus.com/inward/record.url?scp=3242660673&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3242660673&partnerID=8YFLogxK

U2 - 10.1196/annals.1318.009

DO - 10.1196/annals.1318.009

M3 - Article

C2 - 15251939

AN - SCOPUS:3242660673

VL - 1022

SP - 50

EP - 54

JO - Annals of the New York Academy of Sciences

JF - Annals of the New York Academy of Sciences

SN - 0077-8923

ER -