Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Meta-Analysis
. 2015 May;466(5):495-502.
doi: 10.1007/s00428-015-1733-8. Epub 2015 Feb 20.

Mitochondrial microsatellite instability in patients with metastatic colorectal cancer

S Venderbosch  1 , S van Vliet, M H C Craenmehr, F Simmer, A F J de Haan, C J A Punt, M Koopman, I D Nagtegaal
Affiliations
Meta-Analysis

Mitochondrial microsatellite instability in patients with metastatic colorectal cancer

S Venderbosch et al. Virchows Arch. 2015 May.

Abstract

Mitochondrial microsatellite instability (mtMSI), a change in length in mtDNA microsatellite sequences between normal and tumor tissue, has been described as a frequent occurrence in colorectal cancer (CRC). We evaluated the prevalence and prognostic value of mtMSI and its relation to nuclear microsatellite instability (MSI) in patients with metastatic CRC (mCRC). At six loci (D310, D514, D16184, ND1, ND5, and COX1), the mitochondrial DNA sequence was analyzed in normal and tumor tissue, and the mtMSI status was determined. We evaluated the prevalence and outcome in terms of overall survival (OS) in 83 CRC patients with a MSI tumor (including 39 patients with Lynch syndrome) and in 99 mCRC patients with a microsatellite stable (MSS) tumor. A meta-analysis was performed to compare our findings with existing data. mtMSI at the D-loop region was found in 54.4 % (99 out of 182) of all patients. Prevalence of mtMSI was most pronounced at the D310 locus (50.5 %). Prevalence of mtMSI at the D-loop region was not different among patients with MSI compared to MSS tumors. There was no effect of mtMSI on prognosis in patients with MSI or MSS tumors. Prevalence of mtMSI was high in mCRC patients with both MSI and MSS tumors, but there was no correlation with prognosis. mtMSI was particularly present at the D310 locus.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Electropherograms obtained by direct sequencing of the mitochondrial D310 region of matched normal (a) and tumor (b) tissue. The (C)n status of the major population differ in the samples. a C6TC8 and b C6TC7. This is an example of mtMSI
Fig. 2
Fig. 2
Prevalence of mtMSI at the D310 locus (50.5 %) (a), at the D514 locus (4.9 %) (b), and at the D18164 locus (1.6 %) (c) of all patients
Fig. 3
Fig. 3
Prevalence of mtMSI at the D310 locus at the D-loop in stage I--IV colorectal cancer patients among different studies
Fig. 4
Fig. 4
Forest plot of the association of prevalence of mtMSI at the D310 locus in stage I–IV CRC patients with MSI compared to MSS tumors
See this image and copyright information in PMC

References

    1. Akouchekian M, Houshmand M, Akbari MH, Kamalidehghan B, Dehghan M. Analysis of mitochondrial ND1 gene in human colorectal cancer. J Res Med Sci : Off J Isfahan Univ Med Sci. 2011;16:50–55. - PMC - PubMed
    1. Akouchekian M, Houshmand M, Hemati S, Ansaripour M, Shafa M. High rate of mutation in mitochondrial DNA displacement loop region in human colorectal cancer. Dis Colon Rectum. 2009;52:526–530. doi: 10.1007/DCR.0b013e31819acb99. - DOI - PubMed
    1. Attardi G. Animal mitochondrial DNA: an extreme example of genetic economy. Int Rev Cytol. 1985;93:93–145. doi: 10.1016/S0074-7696(08)61373-X. - DOI - PubMed
    1. Bianchi NO. Mitochondrial genome instability in cancer. Cytogenet Genome Res. 2010;128:66–76. doi: 10.1159/000300567. - DOI - PubMed
    1. Carew JS, Huang P. Mitochondrial defects in cancer. Mol Cancer. 2002;1:9. doi: 10.1186/1476-4598-1-9. - DOI - PMC - PubMed

Publication types

Substances

LinkOut - more resources