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Article: Analysis of gestational trophoblastic disease by genotyping and chromosome in situ hybridization

TitleAnalysis of gestational trophoblastic disease by genotyping and chromosome in situ hybridization
Authors
KeywordsChromosome in situ hybridization
Genotyping
Hydatidiform mole
Issue Date2004
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/modpathol/
Citation
Modern Pathology, 2004, v. 17 n. 1, p. 40-48 How to Cite?
AbstractHydatidiform mole is classified into partial and complete subtypes according to histopathological and genetic criteria. Distinction between the two by histology alone may be difficult. Genetically, a complete mole is diploid without maternal contribution, whereas a partial mole is triploid with a maternal chromosome complement. To assess the accuracy of histological diagnosis by correlating with the genetic composition, we performed fluorescent microsatellite genotyping to detect the presence or absence of maternal genome in a hydatidiform mole and carried out chromosome in situ hybridization to analyze the ploidy. For genotyping analysis, paraffin sections of 36 complete and nine partial moles, diagnosed according to histological criteria, were microdissected and DNA was separately extracted from the decidua and molar villi. Six pairs of primers that flank polymorphic microsatellite repeat sequences on five different chromosomes were used. In all, 34 cases, including 31 complete moles and three partial moles diagnosed histologically, showed no maternal contribution by genotyping; thus these could be genetically considered as complete mole. The other 11 cases (five complete moles and six partial moles previously diagnosed by histology) showed the presence of maternal contribution and were genetically diagnosed as partial moles. The genotyping results correlated with histological evaluation in 88% (37/45) of hydatidiform mole and correlated with chromosome in situ hybridization findings in all the cases, that is, triploid hydatidiform moles had maternal-derived alleles, while diploid hydatidiform moles were purely androgenetic. Compared with genetic diagnosis, histological evaluation was more reliable for the diagnosis of a complete mole (91%, 31/34) than that of a partial mole (55%, 6/11) (P = 0.0033). Seven complete moles and three partial moles diagnosed genetically developed gestational trophoblastic neoplasia. To conclude, genotyping and chromosome in situ hybridization can provide reliable adjunct to histology for the classification of a hydatidiform mole, especially in cases with difficult histological evaluation and early gestational age. As a partial mole still carries a risk of developing gestational trophoblastic neoplasia, follow-up is considered necessary for both complete and partial moles. © 2004 USCAP, Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/67753
ISSN
2015 Impact Factor: 5.485
2015 SCImago Journal Rankings: 2.803
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLai, CYLen_HK
dc.contributor.authorChan, KYKen_HK
dc.contributor.authorKhoo, USen_HK
dc.contributor.authorNgan, HYSen_HK
dc.contributor.authorXue, WCen_HK
dc.contributor.authorChiu, PMen_HK
dc.contributor.authorTsao, SWen_HK
dc.contributor.authorCheung, ANYen_HK
dc.date.accessioned2010-09-06T05:57:57Z-
dc.date.available2010-09-06T05:57:57Z-
dc.date.issued2004en_HK
dc.identifier.citationModern Pathology, 2004, v. 17 n. 1, p. 40-48en_HK
dc.identifier.issn0893-3952en_HK
dc.identifier.urihttp://hdl.handle.net/10722/67753-
dc.description.abstractHydatidiform mole is classified into partial and complete subtypes according to histopathological and genetic criteria. Distinction between the two by histology alone may be difficult. Genetically, a complete mole is diploid without maternal contribution, whereas a partial mole is triploid with a maternal chromosome complement. To assess the accuracy of histological diagnosis by correlating with the genetic composition, we performed fluorescent microsatellite genotyping to detect the presence or absence of maternal genome in a hydatidiform mole and carried out chromosome in situ hybridization to analyze the ploidy. For genotyping analysis, paraffin sections of 36 complete and nine partial moles, diagnosed according to histological criteria, were microdissected and DNA was separately extracted from the decidua and molar villi. Six pairs of primers that flank polymorphic microsatellite repeat sequences on five different chromosomes were used. In all, 34 cases, including 31 complete moles and three partial moles diagnosed histologically, showed no maternal contribution by genotyping; thus these could be genetically considered as complete mole. The other 11 cases (five complete moles and six partial moles previously diagnosed by histology) showed the presence of maternal contribution and were genetically diagnosed as partial moles. The genotyping results correlated with histological evaluation in 88% (37/45) of hydatidiform mole and correlated with chromosome in situ hybridization findings in all the cases, that is, triploid hydatidiform moles had maternal-derived alleles, while diploid hydatidiform moles were purely androgenetic. Compared with genetic diagnosis, histological evaluation was more reliable for the diagnosis of a complete mole (91%, 31/34) than that of a partial mole (55%, 6/11) (P = 0.0033). Seven complete moles and three partial moles diagnosed genetically developed gestational trophoblastic neoplasia. To conclude, genotyping and chromosome in situ hybridization can provide reliable adjunct to histology for the classification of a hydatidiform mole, especially in cases with difficult histological evaluation and early gestational age. As a partial mole still carries a risk of developing gestational trophoblastic neoplasia, follow-up is considered necessary for both complete and partial moles. © 2004 USCAP, Inc. All rights reserved.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/modpathol/en_HK
dc.relation.ispartofModern Pathologyen_HK
dc.subjectChromosome in situ hybridizationen_HK
dc.subjectGenotypingen_HK
dc.subjectHydatidiform moleen_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshAdulten_HK
dc.subject.meshChromosome Paintingen_HK
dc.subject.meshDiagnosis, Differentialen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGene Expression Regulation, Neoplasticen_HK
dc.subject.meshGenotypeen_HK
dc.subject.meshHumansen_HK
dc.subject.meshHydatidiform Mole - diagnosis - genetics - pathologyen_HK
dc.subject.meshMicrodissectionen_HK
dc.subject.meshMicrosatellite Repeatsen_HK
dc.subject.meshMiddle Ageden_HK
dc.subject.meshPloidiesen_HK
dc.subject.meshPolymerase Chain Reactionen_HK
dc.subject.meshPregnancyen_HK
dc.subject.meshReproducibility of Resultsen_HK
dc.subject.meshUterine Neoplasms - diagnosis - genetics - pathologyen_HK
dc.titleAnalysis of gestational trophoblastic disease by genotyping and chromosome in situ hybridizationen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0893-3952&volume=17&issue=1&spage=40&epage=48&date=2004&atitle=Analysis+of+gestational+trophoblastic+disease+by+genotyping+and+chromosome+in+situ+hybridizationen_HK
dc.identifier.emailChan, KYK: kelvinc@pathology.hku.hken_HK
dc.identifier.emailKhoo, US: uskhoo@hku.hken_HK
dc.identifier.emailNgan, HYS: hysngan@hkucc.hku.hken_HK
dc.identifier.emailTsao, SW: gswtsao@hku.hken_HK
dc.identifier.emailCheung, ANY: anycheun@hkucc.hku.hken_HK
dc.identifier.authorityChan, KYK=rp00453en_HK
dc.identifier.authorityKhoo, US=rp00362en_HK
dc.identifier.authorityNgan, HYS=rp00346en_HK
dc.identifier.authorityTsao, SW=rp00399en_HK
dc.identifier.authorityCheung, ANY=rp00542en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1038/modpathol.3800010en_HK
dc.identifier.pmid14631372-
dc.identifier.scopuseid_2-s2.0-1642301713en_HK
dc.identifier.hkuros85905en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-1642301713&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume17en_HK
dc.identifier.issue1en_HK
dc.identifier.spage40en_HK
dc.identifier.epage48en_HK
dc.identifier.isiWOS:000188922300008-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridLai, CYL=9276337700en_HK
dc.identifier.scopusauthoridChan, KYK=7406034195en_HK
dc.identifier.scopusauthoridKhoo, US=7004195799en_HK
dc.identifier.scopusauthoridNgan, HYS=34571944100en_HK
dc.identifier.scopusauthoridXue, WC=7103165268en_HK
dc.identifier.scopusauthoridChiu, PM=7103182596en_HK
dc.identifier.scopusauthoridTsao, SW=7102813116en_HK
dc.identifier.scopusauthoridCheung, ANY=54927484100en_HK

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