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Virchows Archiv
Published in: Virchows Archiv 5/2015

Open Access 01-05-2015 | Original Article

Mitochondrial microsatellite instability in patients with metastatic colorectal cancer

Authors: S. Venderbosch, S. van Vliet, M. H. C. Craenmehr, F. Simmer, A. F. J. de Haan, C. J. A. Punt, M. Koopman, I. D. Nagtegaal

Published in: Virchows Archiv | Issue 5/2015

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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.
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Metadata
Title
Mitochondrial microsatellite instability in patients with metastatic colorectal cancer
Authors
S. Venderbosch
S. van Vliet
M. H. C. Craenmehr
F. Simmer
A. F. J. de Haan
C. J. A. Punt
M. Koopman
I. D. Nagtegaal
Publication date
01-05-2015
Publisher
Springer Berlin Heidelberg
Published in
Virchows Archiv / Issue 5/2015
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-015-1733-8

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