T[20] repeat in the 3′-untranslated region of the MT1X gene: a marker with high sensitivity and specificity to detect microsatellite instability in colorectal cancer

Morandi, Luca; Biase, Dario de; Visani, Michela; Monzoni, Adriana; Tosi, Anna Lisa; Brulatti, M.; Turchetti, Daniela; Baccarini, Paola; Tallini, Giovanni; Pession, Annalisa

doi:10.1007/s00384-011-1365-7

Cited by 20 publications

(14 citation statements)

References 22 publications

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“…A more detailed description is available elsewhere (16). The very high accuracy of the marker panel has also been confirmed by additional independent studies (17)(18)(19).…”

Section: Collection and Processing Of Tumor Samplesmentioning

confidence: 70%

Body Mass Index and Microsatellite Instability in Colorectal Cancer: A Population-based Study

Hoffmeister

Bläker

Kloor

et al. 2013

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Previous studies reported a positive association of body mass index (BMI) with microsatellitestable (MSS) but not with microsatellite-instable (MSI-high) colorectal cancer. However, information from population-based studies conducted in representative age groups is so far limited.Methods: We conducted a population-based case-control study (DACHS) in Southern Germany, including 1,215 patients with incident colorectal cancer and 1,891 matched controls with no upper age limit. Information on risk factors of colorectal cancer was obtained in standardized interviews. Microsatellite instability was analyzed using a mononucleotide marker panel.Results: Median age among cases was 69 years, and 115 cases were classified MSI-high (9.5%). In multivariate analyses, BMI was positively associated with both risk of MSI-high colorectal cancer [per 5 kg/m

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“…A more detailed description is available elsewhere (16). The very high accuracy of the marker panel has also been confirmed by additional independent studies (17)(18)(19).…”

Section: Collection and Processing Of Tumor Samplesmentioning

confidence: 70%

Body Mass Index and Microsatellite Instability in Colorectal Cancer: A Population-based Study

Hoffmeister

Bläker

Kloor

et al. 2013

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…Arriaga et al (30) found that the expression of 5 isoforms of MTs, consisting of MT1G, MT1E, MT1F, MT1H and MT1M, were lost during the transition between normal colorectal mucosa and CRC, and the expression of MTs was associated with a shorter survival time in CRC patients (30). In addition, the MT1X gene showed a high sensitivity for the identification of patients with LS or CRC with sporadic defective in MMR (31). This suggests that hsa-miR-520e and hsa-miR-137 may have crucial roles in LS by regulating TGs.…”

Section: Discussionmentioning

confidence: 99%

Hsa-miR-137, hsa-miR-520e and hsa-miR-590-3p perform crucial roles in Lynch syndrome

Zhou

et al. 2016

Oncology Letters

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Abstract. The aim of the present study was to identify the differentially expressed microRNAs (DEMs) between Lynch syndrome (LS) and the normal colonic (N-C) control samples, predict the target genes (TGs) and analyze the potential functions of the DEMs and TGs. The miRNA expression dataset GSE30454, which included data of 13 LS and 20 N-C tissue samples, was downloaded from the Gene Expression Omnibus. The classical t-test in Linear Models for Microarray Data package was used for DEM identification. TG prediction was performed using 5 databases. The regulatory network of the DEMs and their TGs was constructed using Cytoscape. Functional and pathway enrichment analysis was performed. The transcription factors (TFs), tumor-associated genes (TAG) and tumor suppressor genes (TSGs) were then identified. Three key DEMs hsa-miR-137, hsa-miR-520e, and hsa-miR-590-3p were identified. Hsa-miR-520e and hsa-miR-137 had 4 common TGs, including SNF related kinase, metal-regulatory transcription factor 1 (MTF1), round spermatid basic protein 1 and YTH N6-methyladenosine RNA binding protein 3; hsa-miR-590-3p and hsa-miR-137 had 14 common TGs, including NCK adaptor protein 1 (NCK1), EPH receptor A7, and stress-associated endoplasmic reticulum protein 1; hsa-miR-590-3p and hsa-miR-520e had 12 common TGs, including Krüppel-like factor (KLF) 13, twinfilin actin binding protein 1, and nuclear factor I B. Through the functional and pathway enrichments analysis, MTF1 was involved in regulation of gene expression and metabolic processes, and sequence-specific DNA binding TF activity. KLF13 was involved in regulation of gene expression and regulation of cellular metabolic processes. NCK1 was enriched in the axon guidance pathway. In addition, the functional and pathway enrichment analysis showed certain TGs, such as hypoxia-inducible factor 1α, AKT serine/threonine kinase 2, and rapamycin-insensitive companion of mammalian target of rapamycin, participated in the mTOR signaling pathway. The 3 key DEMs hsa-miR-137, hsa-miR-520e, and hsa-miR-590-3p may have important roles in the process of LS.

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“…To investigate tumors microsatellite instability, genotypes were ascertained using 13 polymorphic markers (BAT26, D17S250, TGFBR2, D2S123, D5S346, MybT22, BAT25, D18S58, MT1XT20, BAT40, NR21, NR24, CAT25) in tumor and unaffected tissue 12 . Moreover, three tetranucleotide markers (CSF1PO, D7S820, D18S51) were selected for their high level of polymorphism and low degree of microsatellite instability to confirm that tumor and matching unaffected samples derived from the same individual.…”

Section: Microsatellite Instability Analysismentioning

confidence: 99%

“…Microsatellite instability analysis was performed as previously described. 12 The tumors were classified as low-microsatellite unstable when o40% and at least one marker was unstable. Tumors with 440% instability were classified as high-microsatellite unstable.…”

Section: Microsatellite Instability Analysismentioning

confidence: 99%

Mitochondrial DNA genotyping efficiently reveals clonality of synchronous endometrial and ovarian cancers

et al. 2014

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Simultaneous independent primary tumors of the female genital tract occur in 1-2% of gynecological cancer patients, 50-70% of which are synchronous tumors of the endometrium and ovary. Recognition of synchrony upon multiple tumors is crucial for correct prognosis, therapeutic choice, and patient management. Current guidelines for determining synchrony, based on surgical and histopathological findings, are often ambiguous and may require further molecular analyses. However, because of the uniqueness of each tumor and of its intrinsic heterogeneity, these analyses may sometimes be inconclusive. A role for mitochondrial DNA genotyping was previously demonstrated in the diagnosis of synchronous endometrial and ovarian carcinoma. We have analyzed 11 sample pairs of simultaneously revealed endometrial and ovarian cancers and have thereby applied conventional histopathological criteria, current molecular analyses (microsatellite instability, b-catenin immunohistochemical staining/CTNNB1 mutation screening), and mitochondrial DNA sequencing to distinguish separate independent tumors from metastases, comparing the performance and the informative potential of such methods. We have demonstrated that in ambiguous interpretations where histopathological criteria and canonical molecular methods fail to be conclusive, mitochondrial DNA analysis may act as a needle of balance and allow to formulate a diagnosis in 45.5% of our cases. Additional advantages of mitochondrial DNA genotyping, besides the high level of information we demonstrated here, are the easy implementation and the need for small amounts of starting material. Our results show that mitochondrial DNA genotyping may provide a substantial contribution to indisputably recognize the metastatic nature of simultaneously detected endometrial and ovarian cancers and may change the final staging and clinical management of these patients. Modern Pathology (2014) 27, 1412-1420; doi:10.1038/modpathol.2014.39; published online 14 March 2014 Keywords: gynecological cancer; mitochondrial DNA mutations; synchronous tumors About 1-2% of women with gynecological cancers are found to have simultaneous independent primary malignancies. Synchronous tumors in the ovary and endometrium are the commonest combination (50-70%) among all synchronous female genital tract malignancies. Only a subset of these can be accurately categorized by standard histological examination. Criteria for synchrony diagnosis were first documented in 1985 1 and subsequently detailed in 1998. 2 Unfortunately, a relevant fraction of cases remains which may not be classified with confidence, either because of widespread involvement, in which case the distinction is of academic rather than practical or prognostic significance, or, more importantly, because of overlapping or

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T[20] repeat in the 3′-untranslated region of the MT1X gene: a marker with high sensitivity and specificity to detect microsatellite instability in colorectal cancer

Abstract: Our results suggest that MT1XT20 represents a sensitive and specific marker for MSI testing and could be included in a complete set of MSI markers for the confident identification of familial or sporadic dMMR patients in CRCs.

Cited by 20 publications

References 22 publications

Body Mass Index and Microsatellite Instability in Colorectal Cancer: A Population-based Study

Body Mass Index and Microsatellite Instability in Colorectal Cancer: A Population-based Study

Hsa-miR-137, hsa-miR-520e and hsa-miR-590-3p perform crucial roles in Lynch syndrome

Mitochondrial DNA genotyping efficiently reveals clonality of synchronous endometrial and ovarian cancers

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