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Article: Microsatellite instability and mutation of DNA mismatch repair genes in gliomas

TitleMicrosatellite instability and mutation of DNA mismatch repair genes in gliomas
Authors
Issue Date1998
PublisherAmerican Society for Investigative Pathology. The Journal's web site is located at http://www.amjpathol.org
Citation
American Journal Of Pathology, 1998, v. 153 n. 4, p. 1181-1188 How to Cite?
AbstractMicrosatellite instability (MSI) has been identified in various human cancers, particularly those associated with the hereditary nonpolyposis colorectal cancer syndrome. Although gliomas have been reported in a few hereditary nonpolyposis colorectal cancer syndrome kindred, data on the incidence of MSI in gliomas are conflicting, and the nature of the mismatch repair (MMR) defect is not known. We established the incidence of MSI and the underlying MMR gene mutation in 22 patients ages 45 years or less with sporadic high-grade gliomas (17 glioblastomas, 3 anaplastic astrocytomas, and 2 mixed gliomas, grade III). Using five microsatellite loci, four patients (18%) had high level MSI, with at least 40% unstable loci. Germline MMR gene mutation was detected in all four patients, with inactivation of the second allele of the corresponding MMR gene or loss of protein expression in the tumor tissue. Frameshift mutation in the mononucleotide tract of insulin- like growth factor type II receptor was found in one high-level MSI glioma, but none was found in the transforming growth factor β type II receptor and the Bax genes. There was no family history of cancer in three of the patients, and although one patient did have a family history of colorectal carcinoma, the case did not satisfy the Amsterdam criteria for hereditary nonpolyposis colorectal cancer syndrome. Three patients developed metachronous colorectal adenocarcinomas, fitting the criteria of Turcot's syndrome. Thus, MSI and germline MMR gene mutation is present in a subset of young glioma patients, and these patients and their family members are at risk of developing other hereditary nonpolyposis colorectal cancer syndrome- related tumors, in particular colorectal carcinomas. These results have important implications in the genetic testing and management of young patients with glioma and their families.
Persistent Identifierhttp://hdl.handle.net/10722/49007
ISSN
2015 Impact Factor: 4.206
2015 SCImago Journal Rankings: 2.653
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLeung, SYen_HK
dc.contributor.authorChan, TLen_HK
dc.contributor.authorChung, LPen_HK
dc.contributor.authorChan, ASYen_HK
dc.contributor.authorFan, YWen_HK
dc.contributor.authorHung, KNen_HK
dc.contributor.authorKwong, WKen_HK
dc.contributor.authorHo, JWCen_HK
dc.contributor.authorYuen, STen_HK
dc.date.accessioned2008-06-12T06:32:04Z-
dc.date.available2008-06-12T06:32:04Z-
dc.date.issued1998en_HK
dc.identifier.citationAmerican Journal Of Pathology, 1998, v. 153 n. 4, p. 1181-1188en_HK
dc.identifier.issn0002-9440en_HK
dc.identifier.urihttp://hdl.handle.net/10722/49007-
dc.description.abstractMicrosatellite instability (MSI) has been identified in various human cancers, particularly those associated with the hereditary nonpolyposis colorectal cancer syndrome. Although gliomas have been reported in a few hereditary nonpolyposis colorectal cancer syndrome kindred, data on the incidence of MSI in gliomas are conflicting, and the nature of the mismatch repair (MMR) defect is not known. We established the incidence of MSI and the underlying MMR gene mutation in 22 patients ages 45 years or less with sporadic high-grade gliomas (17 glioblastomas, 3 anaplastic astrocytomas, and 2 mixed gliomas, grade III). Using five microsatellite loci, four patients (18%) had high level MSI, with at least 40% unstable loci. Germline MMR gene mutation was detected in all four patients, with inactivation of the second allele of the corresponding MMR gene or loss of protein expression in the tumor tissue. Frameshift mutation in the mononucleotide tract of insulin- like growth factor type II receptor was found in one high-level MSI glioma, but none was found in the transforming growth factor β type II receptor and the Bax genes. There was no family history of cancer in three of the patients, and although one patient did have a family history of colorectal carcinoma, the case did not satisfy the Amsterdam criteria for hereditary nonpolyposis colorectal cancer syndrome. Three patients developed metachronous colorectal adenocarcinomas, fitting the criteria of Turcot's syndrome. Thus, MSI and germline MMR gene mutation is present in a subset of young glioma patients, and these patients and their family members are at risk of developing other hereditary nonpolyposis colorectal cancer syndrome- related tumors, in particular colorectal carcinomas. These results have important implications in the genetic testing and management of young patients with glioma and their families.en_HK
dc.format.extent418 bytes-
dc.format.mimetypetext/html-
dc.languageengen_HK
dc.publisherAmerican Society for Investigative Pathology. The Journal's web site is located at http://www.amjpathol.orgen_HK
dc.relation.ispartofAmerican Journal of Pathologyen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshBrain Neoplasms - genetics - metabolism - pathologyen_HK
dc.subject.meshDNA Repair - geneticsen_HK
dc.subject.meshGerm-Line Mutationen_HK
dc.subject.meshDNA-Binding Proteinsen_HK
dc.subject.meshMicrosatellite Repeats - geneticsen_HK
dc.titleMicrosatellite instability and mutation of DNA mismatch repair genes in gliomasen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9440&volume=153&issue=4&spage=1181&epage=1188&date=1998&atitle=Microsatellite+instability+and+mutation+of+DNA+mismatch+repair+genes+in+gliomasen_HK
dc.identifier.emailLeung, SY: suetyi@hku.hken_HK
dc.identifier.emailChan, TL: tlchan@hku.hken_HK
dc.identifier.emailChung, LP: lpchung@hkucc.hku.hken_HK
dc.identifier.authorityLeung, SY=rp00359en_HK
dc.identifier.authorityChan, TL=rp00418en_HK
dc.identifier.authorityChung, LP=rp00249en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid9777949en_HK
dc.identifier.pmcidPMC1853047-
dc.identifier.scopuseid_2-s2.0-0000240768en_HK
dc.identifier.hkuros40704-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0000240768&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume153en_HK
dc.identifier.issue4en_HK
dc.identifier.spage1181en_HK
dc.identifier.epage1188en_HK
dc.identifier.isiWOS:000076364900019-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLeung, SY=7202044886en_HK
dc.identifier.scopusauthoridChan, TL=7402687537en_HK
dc.identifier.scopusauthoridChung, LP=24315879100en_HK
dc.identifier.scopusauthoridChan, ASY=7403168075en_HK
dc.identifier.scopusauthoridFan, YW=7403492523en_HK
dc.identifier.scopusauthoridHung, KN=7202728375en_HK
dc.identifier.scopusauthoridKwong, WK=7005955797en_HK
dc.identifier.scopusauthoridHo, JWC=25925854200en_HK
dc.identifier.scopusauthoridYuen, ST=8323342200en_HK

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