Mitochondrial DNA mutation at the D310 (displacement loop) mononucleotide sequence in the pathogenesis of gallbladder carcinoma

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dc.catalogadordfo
dc.contributor.authorTang, Moying
dc.contributor.authorBaez, S
dc.contributor.authorPruyas Arieda, Martha
dc.contributor.authorDiaz, A
dc.contributor.authorCalvo, A
dc.contributor.authorRiquelme Sánchez, Erick Marcelo
dc.contributor.authorWistuba, Oyarzún Ignacio
dc.date.accessioned2024-07-18T15:27:04Z
dc.date.available2024-07-18T15:27:04Z
dc.date.issued2004
dc.description.abstractPurpose: Mutations in the mitochondrial DNA (mtDNA) have been observed frequently in human neoplasia, in both coding and noncoding regions. A mononucleotide repeat (poly-C) between 303 and 315 nucleotides (D310) within the regulatory displacement loop has been identified recently as a frequent hot spot of deletion/insertion mutations in tumors. We investigated the frequency and pattern of D310 abnormalities in the pathogenesis of gallbladder carcinoma (GBC). Experimental Design: DNA extracted from neoplastic and nonneoplastic archival gallbladder tissue including 123 tumors, 53 dysplastic areas, and 90 histologically normal epithelia adjacent to GBC, chronic cholecystitis, and 15 normal gallbladders were examined by PCR-based assay for D310 mutations, followed by sequencing in a subset of cases. Results: D310 mutation was a relatively frequent (47 of 123; 38%) abnormality in GBC. A very high frequency of mutations were detected in dysplastic (8 of 14; 57%) and normal-appearing gallbladder epithelia (10 of 22; 46%) accompanying GBC, showing a clonal relationship compared with the corresponding tumors. D310 mutations were also detected in dysplastic (8 of 39; 21%) and normal (17 of 68; 25%) epithelia obtained from chronic cholecystitis. A single case of 15 normal gallbladders showed a D310 abnormality. Overall, deletions (67 of 91; 74%) at D310 were more frequent than insertions. Conclusions: D310 mutation at the mtDNA displacement loop is a relatively frequent and early event in the sequential pathogenesis of GBC, being detected in normalappearing epithelium from chronic cholecystitis. Our findReceived 4/28/03; revised 11/3/03; accepted 11/4/03. Grant support: Grant FONDECYT (Fondo Nacional de Desarrollo Cientifico y Tecnologico) #1020960. The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked advertisement in accordance with 18 U.S.C. Section 1734 solely to indicate this fact. Requests for reprints: Ignacio I. Wistuba, Department of Pathology, M.D. Anderson Cancer Center, 1515 Holcombe Boulevard, Unit 85, Houston, TX 77030-4009. Phone: (713) 563-1659; Fax: (713) 7923184; E-mail: iiwistuba@mdanderson.org. ings suggest that mtDNA mutations should be additionally investigated in GBC pathogenesis, and D310 mononucleotide abnormalities could be included in a panel of molecular biomarkers for GBC early detection strategy.
dc.fuente.origenWOS
dc.identifier.doi10.1158/1078-0432.CCR-0701-3
dc.identifier.issn1078-0432
dc.identifier.pubmedidMEDLINE:14871983
dc.identifier.urihttps://doi.org/10.1158/1078-0432.CCR-0701-3
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/87113
dc.identifier.wosidWOS:000188982700029
dc.information.autorucEscuela de Medicina; Pruyas Arieda Martha; S/I; 99629
dc.information.autorucEscuela de Medicina; Riquelme Sanchez Erick Marcelo; 0000-0002-2696-7995; 1001194
dc.issue.numero3
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final1046
dc.pagina.inicio1041
dc.revistaClinical cancer research
dc.rightsacceso restringido
dc.subjectMicrosatelite inestability
dc.subjectAllelotyping analisis
dc.subjectRapid evolution
dc.subjectMtdna mutations
dc.subjectBreast-cancer
dc.subjectNuclear-dna
dc.subjectTumors
dc.subjectGenome
dc.subjectIdentification
dc.subjectProgression
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleMitochondrial DNA mutation at the D310 (displacement loop) mononucleotide sequence in the pathogenesis of gallbladder carcinoma
dc.typeartículo
dc.volumen10
sipa.codpersvinculados99629
sipa.codpersvinculados1001194
sipa.codpersvinculados100278
sipa.trazabilidadWOS;05-06-2021
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