Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR

Suraweera, Nirosha; Duval, Alex; Répérant, Maryline; Vaury, Chantal; Furlan, Daniela; Leroy, Karen; Seruca, Raquel; Iacopetta, Barry; Hamelin, Richard

doi:10.1053/gast.2002.37070

Cited by 534 publications

(458 citation statements)

References 21 publications

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“…A quasimonomorphic panel consisting of BAT25, BAT26, NR21, NR22, NR24, and other microsatellite repeats has also been described (Table 1). 17,[65][66][67][68] If 30% or more of the repeats are unstable, a tumor is classified as MSI-high (MSI-H). If fewer than 30% of repeats are unstable, a tumor is classified as MSIlow (MSI-L), and if no repeats are unstable, a tumor is classified as microsatellite stable.…”

Section: Guidelines For Detection Of Mutations In the Mmr Genes: Methodsmentioning

confidence: 99%

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Hegde

Ferber

Mao

et al. 2014

Genetics in Medicine

144

100

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Section: Guidelines For Detection Of Mutations In the Mmr Genes: Methodsmentioning

confidence: 99%

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Hegde

Ferber

Mao

et al. 2014

Genetics in Medicine

144

100

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“…20 Briefly, the tests were performed on tumor and normal DNA extracted from paraffin-embedded tissue blocks using a DNease Tissue Kit (Qiagen, Valencia, CA, USA); manual microdissection was performed, when required, to exclude overabundance of non-lesional tissue. Paired DNA samples from neoplastic and non-neoplastic samples were genotyped and analyzed by capillary electrophoresis using an ABI 310 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA).…”

Section: Microsatellite Instability Analysis Polymerase Chain Reactionmentioning

confidence: 99%

Clinicopathologic and molecular features of sporadic early-onset colorectal adenocarcinoma: an adenocarcinoma with frequent signet ring cell differentiation, rectal and sigmoid involvement, and adverse morphologic features

et al. 2012

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Recent literature suggests an increasing incidence of colorectal carcinoma in young patients. We performed a histologic, molecular, and immunophenotypic analysis of patients with sporadic early-onset (r40 years of age) colorectal carcinoma seen at our institution from the years 2000-2010 and compared these tumors to a cohort of consecutively resected colorectal carcinomas seen in patients 440 years of age. A total of 1160 primary colorectal adenocarcinomas were surgically resected for the years 2000 through 2010. Of these, 75 (6%) were diagnoses in patients r40 years of age of which 13 (17%) demonstrated abnormalities in DNA mismatch repair, 4 (5%) were in patients with known germline genetic disorders (two patients with familial adenomatous polyposis, one patient with juvenile polyposis, and one patient with Li-Fraumeni syndrome), and three patients (4%) had long-standing chronic inflammatory bowel disease. The sporadic early-onset colorectal carcinoma group comprised a total of 55 patients (55/1160, 5%) and were compared with a control group comprising 73 consecutively resected colorectal carcinomas with proficient DNA mismatch repair in patients 440 years of age. For the early-onset colorectal carcinoma group, most cases (33/55, 60%) were diagnosed between the age of 35 and 40 years of age. Compared with the control group, the early-onset colorectal carcinoma group was significantly different with respect to tumor location (Po0.007) with 80% (44/55 cases) identified in either the sigmoid colon (24/55, 44%) or rectum (20/55, 36%). Morphologically, early-onset colorectal carcinomas more frequently displayed adverse histologic features compared with the control colorectal carcinoma group such as signet ring cell differentiation (7/55, 13% vs 1/73, 1%, P ¼ 0.021), perineural invasion (16/55, 29% vs 8/73, 11%, P ¼ 0.009) and venous invasion (12/55, 22% vs 4/73, 6%, P ¼ 0.006). A precursor adenomatous lesion was less frequently identified in the early-onset colorectal carcinoma group compared with the control group (19/55, 35% vs 39/73, 53%, P ¼ 0.034). Of the early-onset colorectal carcinomas, only 2/45 cases (4%) demonstrated KRAS mutations compared with 11/73 (15%) of the control group colorectal adenocarcinomas harboring KRAS mutations, although this difference did not reach statistical significance (P ¼ 0.13). BRAF V600E mutations were not identified in the early-onset colorectal carcinoma group. No difference was identified between the two

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“…Because this method led to misclassification of a number of MSI colorectal cancers, the National Cancer Institute recently recommended the use of a fluorescent pentaplex PCR of mononucleotide repeats that has been shown to improve the gold standard of MSI detection in colorectal cancer (Umar et al, 2004). These markers have been shown to establish tumour MSI status with clear interpretation of data and 100% specificity and sensitivity with no need for matched normal tissue (Suraweera et al, 2002;Buhard et al, 2004). Few studies addressed the MSI status of UUC; they were performed using the original or a modified Bethesda panel and reported dramatic variations in the incidence rate (4-31%) Hartmann et al, 2002Hartmann et al, , 2003Catto et al, 2003;Roupret et al, 2004;Ericson et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

“…17 and 30); in the remaining tumour (No. 33), the possibility of a rare polymorphism could not be unambiguously established in absence of corresponding germline DNA (Suraweera et al, 2002). A total of 25 tumours (four MSI, two with variants at 1 locus and 19 MSS) have been further analysed using the original Bethesda panel leading to identical results.…”

Section: Introductionmentioning

confidence: 99%

“…Several reasons may account for the discrepancies: (i) the interpretation of dinucleotide repeat profiles is difficult and generally leads to overclassification of tumours into MSI-H (Dietmaier et al, 1997); (ii) dinucleotide markers are less sensitive than mononucleotide markers, notably in case of MSH6 defect (Verma et al, 1999); (iii) the criteria used to define MSI were also less stringent than those defined for MSI colorectal cancer (Boland et al, 1998). Because the sizes of allelic shifts in MSI UUC tumours were small (varying from 2 to 8 bp), we recommend the concomitant analysis of the normal counterpart DNA for MSI screening of these tumours, as in the case of endometrial tumours (Suraweera et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

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Microsatellite instability and mutation analysis of candidate genes in urothelial cell carcinomas of upper urinary tract

Mongiat-Artus

Miquel²,

et al. 2005

Oncogene

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A subset of upper urinary tract urothelial cell carcinomas (UUC), arising sporadically or as a manifestation of hereditary non-polyposis colorectal cancer, displays microsatellite instability (MSI). MSI tumours are characterized by defective mismatch repair and accumulation of frameshift mutations in numerous genes harbouring repeats in their coding sequences. We have evaluated the incidence of MSI in UUC and the intratumoral distribution of mutations in 13 candidate target genes. A total of 58 unselected UUC were screened for MSI using the panel of five mononucleotide markers recently recommended by the National Cancer Institute for a precise MSI assessment. Four tumours displayed MSI (7%), among which at least three had alterations in the genes MSH3, BAX, MRE11, RAD50. Mutations in genes involved in key cellular pathways (ATR, DNA-PKcs, MBD4, TCF-4, MSH6, and BLM) were further detected. BAX and MRE11 mutations tend to present homogeneously within the three MSI UUC. Immunohistochemistry (MLH1, MSH2, MSH6) showed that loss of mismatch repair protein expression occurred in all MSI UUC defining the gene defect and that MRE11 and RAD50 mutations were associated with their concomitant loss expression. In conclusion, MSI UUC represent a small proportion of UUC in which BAX and MRE11 mutations are frequent and may play a role early in UUC tumorigenesis.

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Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR

Cited by 534 publications

References 21 publications

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Clinicopathologic and molecular features of sporadic early-onset colorectal adenocarcinoma: an adenocarcinoma with frequent signet ring cell differentiation, rectal and sigmoid involvement, and adverse morphologic features

Microsatellite instability and mutation analysis of candidate genes in urothelial cell carcinomas of upper urinary tract

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