Review Article

Epidemiology of Microsatellite Instability High (MSI-H) and Deficient Mismatch Repair (dMMR) in Solid Tumors: A Structured Literature Review

Table 2

References—MSI studies.

AuthorYearTitleJournalTumor type

Abraham2002Microsatellite instability in intraductal papillary neoplasms of the biliary tractNaturePancreatic
Adduri2014P53 nuclear stabilization is associated with FHIT loss and younger age of onset in squamous cell carcinoma of oral tongueBMC Clinical PathologyOral cavity
Akbari2017Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimensFamilial CancerOvarian
Alldinger2007Microsatellite instability in Ewing tumor is not associated with loss of mismatch repair protein expressionJournal of Cancer Research and Clinical OncologyEwing sarcoma
Altavilla2010Microsatellite instability and hMLH1 and hMSH2 expression in renal tumorsOncology ReportsRenal
Amaki-Takao2016Colorectal cancer with BRAF D594G mutation is not associated with microsatellite instability or poor prognosisOncology (Switzerland)Colorectal
An2005Prognostic significance of CpG island methylator phenotype and microsatellite instability in gastric carcinomaClinical Cancer ResearchGastric
An2012Microsatellite instability in sporadic gastric cancer: its prognostic role and guidance for 5-fu based chemotherapy after r0 resectionInternational Journal of CancerGastric
Aparicio2013Small bowel adenocarcinoma phenotyping, a clinicobiological prognostic studyBritish Journal of CancerSmall bowel
Aysal2012Ovarian endometrioid adenocarcinoma: incidence and clinical significance of the morphologic and immunohistochemical markers of mismatch repair protein defects and tumor microsatellite instabilityThe American Journal of Surgical PathologyOvarian
Bacani2005Tumor microsatellite instability in early onset gastric cancerJournal of Molecular DiagnosticsGastric
Bae2015Usefulness of immunohistochemistry for microsatellite instability screening in gastric cancerGut and LiverGastric
Basil2000Clinical significance of microsatellite instability in endometrial carcinomaCancerEndometrial
Bataille2003Alterations in p53 predict response to preoperative high dose chemotherapy in patients with gastric cancerJournal of Clinical Pathology-Molecular PathologyGastric
Billingsley2015Polymerase e (pole) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testingCancerEndometrial
Black2006Clinicopathologic significance of defective DNA mismatch repair in endometrial carcinomaJournal of Clinical OncologyEndometrial
Buller2001p53 mutations and microsatellite instability in ovarian cancer: Yin and YangAmerican Journal of Obstetrics & GynecologyOvarian
Buttin2006Increased risk for abnormalities on perioperative colon screening in patients with microsatellite instability-positive endometrial carcinomaInternational Journal of Gynecological CancerEndometrial
Cai2004Microsatellite instability and alteration of the expression of hMLH1 and hMSH2 in ovarian clear cell carcinomaHuman PathologyOvarian
Catasus2004Molecular genetic alterations in endometrioid carcinomas of the ovary: similar frequency of beta-catenin abnormalities but lower rate of microsatellite instability and PTEN alterations than in uterine endometrioid carcinomasHuman PathologyOvarian
Cesinaro2007Mismatch repair proteins expression and microsatellite instability in skin lesions with sebaceous differentiation: a study in different clinical subgroups with and without extracutaneous cancerThe American Journal of DermatopathologySebaceous
Chiaravalli2001Immunohistochemical pattern of hMSH2/hMLH1 in familial and sporadic colorectal, gastric, endometrial and ovarian carcinomas with instability in microsatellite sequencesVirchows ArchivGastric, endometrial, ovarian, and colorectal
Choe2005High frequency of microsatellite instability in intestinal-type gastric cancer in Korean patientsThe Korean Journal of Internal MedicineGastric
Choi2015Correlation between microsatellite instability-high phenotype and occult lymph node metastasis in gastric carcinomaAPMISGastric
Chong2013The genomic landscape of oesophagogastric junctional adenocarcinomaJournal of PathologyOesophagogastric junctional
Choy2004Microsatellite instability and MLH1 promoter methylation in human retinoblastomaInvestigative Ophthalmology and Visual scienceRetinoblastoma
Cook2013Endometrial cancer and a family history of cancerGynecologic OncologyEndometrial and other unspecified tumors
Cullinane2004Microsatellite instability is a rare finding in tumors of patients with both primary renal and rectal neoplasmsCancer Genetics & CytogeneticsRectal and renal
Dewdney2012Uterine serous carcinoma: increased familial risk for Lynch-associated malignanciesCancer Prevention ResearchEndometrial
Evans2004Microsatellite instability in esophageal adenocarcinomaCancer LettersEsophageal
Fu2012Cpg island methylator phenotype-positive tumors in the absence of mlh1 methylation constitute a distinct subset of duodenal adenocarcinomas and are associated with poor prognosisClinical Cancer ResearchSmall bowel
Garcia2006Mismatch repair protein expression and microsatellite instability: a comparison of clear cell sarcoma of soft parts and metastatic melanomaModern PathologyClear Cell Sarcoma and Melanoma
Gargano2007Aberrant methylation within RUNX3 CpG island associated with the nuclear and mitochondrial microsatellite instability in sporadic gastric cancers. Results of a GOIM (gruppo oncologico dell’italia meridionale) prospective studyAnnals of OncologyGastric
Geiseler2003Mismatch repair gene expression defects contribute to microsatellite instability in ovarian carcinomaCancerOvarian
Glavac2003Low microsatellite instability and high loss of heterozygosity rates indicate dominant role of the suppressor pathway in squamous cell carcinoma of head and neck and loss of heterozygosity of 11q14.3 correlates with tumor gradeCancer Genetics & CytogeneticsHead and neck
Goodfellow2003Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancersProceedings of the National Academy of Sciences of the United States of AmericaEndometrial
Gras2001Microsatellite instability, MLH-1 promoter hypermethylation, and frameshift mutations at coding mononucleotide repeat microsatellites in ovarian tumorsCancerOvarian
Grogg2003Lymphocyte-rich gastric cancer: associations with Epstein-Barr virus, microsatellite instability, histology, and survivalModern PathologyGastric
Gu2009Analysis of microsatellite instability, protein expression and methylation status of hmlh1 and hmsh2 genes in gastric carcinomasHepato-GastroenterologyGastric
Hampel2005Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)The New England Journal of MedicineColorectal
Hasuo2007Assessment of microsatellite instability status for the prediction of metachronous recurrence after initial endoscopic submucosal dissection for early gastric cancerBritish Journal of CancerGastric
Hermsen2009Genome-wide analysis of genetic changes in intestinal-type sinonasal adenocarcinomaHead & neckNasopharynx
Honecker2009Microsatellite instability, mismatch repair deficiency, and BRAF mutation in treatment-resistant germ cell tumorsJournal of Clinical OncologyTestis
Hong2012The differential impact of microsatellite instability as a marker of prognosis and tumour response between colon cancer and rectal cancerEuropean Journal of CancerColorectal
Huang2010Comparative features of colorectal and gastric cancers with microsatellite instability in Chinese patientsJournal of Zhejiang University ScienceGastric and colorectal
Jahng2012Endoscopic and clinicopathologic characteristics of early gastric cancer with high microsatellite instabilityWorld Journal of GastroenterologyGastric
Jensen2008Microsatellite instability and mismatch repair protein defects in ovarian epithelial neoplasms in patients 50 years of age and youngerAmerican Journal of surgical PathologyOvarian
Jung2016aPrognostic impact of microsatellite instability in colorectal cancer presenting with mucinous, signet-ring, and poorly differentiated cellsAnnals of ColoproctologyColorectal
Jung2016bObservational study: familial relevance and oncological significance of revised bethesda guidelines in colorectal patients that have undergone curative resectionMedicine (United States)Colorectal
Kanopiene2014Impact of microsatellite instability on survival of endometrial cancer patientsMedicinaEndometrial
Karpińska-Kaczmarczyk2016Expression of mismatch repair proteins in early and advanced gastric cancer in PolandMedical Science MonitorGastric
Kawaguchi2009Analysis of candidate target genes for mononucleotide repeat mutation in microsatellite instability-high (MSI-H) endometrial cancerInternational Journal of OncologyEndometrial
Kawanaka2016Effects of Helicobacter pylori eradication on the development of metachronous gastric cancer after endoscopic treatment: analysis of molecular alterations by a randomised controlled trialBritish Journal of CancerGastric
Kim1999Accumulated frameshift mutations at coding nucleotide repeats during the progression of gastric carcinoma with microsatellite instabilityLaboratory InvestigationGastric
Kim2013aMicrosatellite instability status in gastric cancer: a reappraisal of its clinical significance and relationship with mucin phenotypesKorean Journal of PathologyGastric
Kim2013bDifferential clinicopathologic features in microsatellite-unstable gastric cancers with and without MLH1 methylationHuman PathologyGastric
Kim2016aClinicopathologic features of gastric cancer with synchronous and metachronous colorectal cancer in Korea: are microsatellite instability and p53 overexpression useful markers for predicting colorectal cancer in gastric cancer patients?Gastric CancerGastric and colorectal
Kim2016bMicrosatellite instability of gastric and colorectal cancers as a predictor of synchronous gastric or colorectal neoplasmsGut and LiverGastric and colorectal
Koopman2009Deficient mismatch repair system in patients with sporadic advanced colorectal cancerBritish Journal of CancerColorectal
Kubo2005Frequent microsatellite instability in primary esophageal carcinoma associated with extraesophageal primary carcinomaInternational Journal of CancerEsophageal
Kumagai2015Mucinous phenotype and cd10 expression of primary adenocarcinoma of the small intestineWorld Journal of GastroenterologySmall bowel
Leenen2012Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤70 yearsGynecologic OncologyEndometrial
Leite2011MSI phenotype and MMR alterations in familial and sporadic gastric cancerInternational Journal of CancerGastric
Liu2004Microsatellite instability and expression of hMLH1 and hMSH2 proteins in ovarian endometrioid cancerModern PathologyOvarian
Lu2007Prospective determination of prevalence of Lynch syndrome in young women with endometrial cancerJournal of Clinical OncologyEndometrial
Martinez2005Low-level microsatellite instability phenotype in sporadic glioblastoma multiformeJournal of Cancer Research and Clinical OncologyBrain
Mathiak2017Clinicopathologic characteristics of microsatellite instable gastric carcinomas revisited: urgent need for standardizationApplied Immunohistochemistry and Molecular MorphologyGastric
Matsumoto2007Microsatellite instability and clinicopathological features in esophageal squamous cell cancerOncology ReportsEsophageal
McCleary2016Prognostic utility of molecular factors by age at diagnosis of colorectal cancerClinical Cancer ResearchColorectal
McConechy2015Detection of DNA mismatch repair (mmr) deficiencies by immunohistochemistry can effectively diagnose the microsatellite instability (msi) phenotype in endometrial carcinomasGynecologic OncologyEndometrial
McCourt2007Body mass index: relationship to clinical, pathologic and features of microsatellite instability in endometrial cancerGynecologic OncologyEndometrial
Moy2015Microsatellite instability in gallbladder carcinomaVirchows ArchivGallbladder
Nagahashi2008Genetic changes of p53, Kras, and microsatellite instability in gallbladder carcinoma in high-incidence areas of Japan and HungaryWorld Journal of GastroenterologyGallbladder
Okuda2005The profile of hMLH1 methylation and microsatellite instability in colorectal and non-small cell lung cancerInternational Journal of Molecular MedicineColorectal, NSCLC
Rajan2014DNA mismatch repair defects and microsatellite instability status in periocular sebaceous carcinomaAmerican Journal of OphthalmologySebaceous
Roa2005Microsatellite instability in preneoplastic and neoplastic lesions of the gallbladderJournal of GastroenterologyGallbladder
Rodriguez-Hernandez2013Integrated analysis of mismatch repair system in malignant astrocytomasPLoS One (electronic resource)Brain
Rubio2016Analysis of Lynch syndrome mismatch repair genes in women with endometrial cancerOncologyEndometrial
Rubio-Del-Campo2008Implications of mismatch repair genes hmlh1 and hmsh2 in patients with sporadic renal cell carcinomaBJU internationalRenal
Ruemmele2009Histopathologic features and microsatellite instability of cancers of the papilla of vater and their precursor lesionsThe American Journal of Survival PathologyPancreatic
Saetta2004Mononucleotide markers of microsatellite instability in carcinomas of the urinary bladderEuropean Journal of Surgical OncologyBladder
Schneider2000Microsatellite instability, prognosis and metastasis in gastric cancers from a low-risk populationInternational Journal of CancerGastric
Seo2009Clinicopathologic characteristics and outcomes of gastric cancers with the MSI-H phenotypeJournal of Surgical OncologyGastric
Seo2015Clinicopathologic and molecular features associated with patient age in gastric cancerWorld Journal of GastroenterologyGastric
Shibata2006RAB32 hypermethylation and microsatellite instability in gastric and endometrial adenocarcinomasInternational Journal of CancerGastric and endometrial
Shilpa2014Microsatellite instability, promoter methylation and protein expression of the DNA mismatch repair genes in epithelial ovarian cancerGenomicsOvarian
Shirai2006Interleukin-8 gene polymorphism associated with susceptibility to non-cardia gastric carcinoma with microsatellite instabilityJournal of Gastroenterology and Hepatology (Australia)Gastric
Singer2004Different types of microsatellite instability in ovarian carcinomaInternational Journal of CancerOvarian
Skenderi2017Warthin-like papillary renal cell carcinoma: Clinicopathologic, morphologic, immunohistochemical and molecular genetic analysis of 11 casesAnnals of Diagnostic PathologyRenal
Soliman2005Women with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome?Journal of Clinical Oncology: Official Journal of the American Society of Clinical OncologyEndometrial and ovarian
Sood2001Application of the National Cancer Institute international criteria for determination of microsatellite instability in ovarian cancerCancer ResearchOvarian
Stello2016Improved risk assessment by integrating molecular and clinicopathological factors in early-stage endometrial cancer-combined analysis of the PORTEC cohortsClinical Cancer ResearchEndometrial
Stoehr2012Mismatch repair proteins hMLH1 and hMSH2 are differently expressed in the three main subtypes of sporadic renal cell carcinomaPathobiologyRenal
Suemori2015Intratumoral cd8+ lymphocyte infiltration as a prognostic factor and its relationship with cyclooxygenase 2 expression and microsatellite instability in endometrial cancerInternational Journal of Gynecological CancerEndometrial
Sugai2017Genetic differences stratified by PCR-based microsatellite analysis in gastric intramucosal neoplasiaGastric CancerGastric
Tanaka2006Effect of eradication of Helicobacter pylori on genetic instabilities in gastric intestinal metaplasiaAlimentary Pharmacology and Therapeutics Symposium SeriesGastric
Tay2003A combined comparative genomic hybridization and expression microarray analysis of gastric cancer reveals novel molecular subtypesCancer ResearchGastric
Vladimirova2008Low level of microsatellite instability in paediatric malignant astrocytomasNeuropathology and Applied NeurobiologyBrain
Wen2012DNA mismatch repair deficiency in breast carcinoma a pilot study of triple-negative and non-triple-negative tumorsThe American Journal of Survival PathologyBreast
Wong2003The role of microsatellite instability in cervical intraepithelial neoplasia and squamous cell carcinoma of the cervixGynecologic OncologyCervical
Yan2016Prediction of biological behavior and prognosis of colorectal cancer patients by tumor msi/mmr in the Chinese populationOncoTargets and TherapyColorectal
Yoon2008Clinical significance of microsatellite instability in sporadic epithelial ovarian tumorsYonsei Medical JournalOvarian
Zighelboim2007Microsatellite instability and epigenetic inactivation of MLH1 and outcome of patients with endometrial carcinomas of the endometrioid typeJournal of Clinical OncologyEndometrial