Comparative analysis of loss of heterozygosity and microsatellite instability in adult and pediatric melanoma.

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dc.catalogadorpau
dc.contributor.authorUribe González, Pablo Francisco
dc.contributor.authorWistuba, Ignacio I.
dc.contributor.authorSolar, Antonieta
dc.contributor.authorBalestrini, Claudia
dc.contributor.authorPerez-Cotapos, Maria Luisa
dc.contributor.authorGonzalez, Sergio
dc.date.accessioned2023-05-18T19:49:50Z
dc.date.available2023-05-18T19:49:50Z
dc.date.issued2005
dc.description.abstractAlthough 0.3% of melanomas occur in children, the incidence has risen in past decades. In adult melanoma, some chromosomal regions in 1p, 6q, 9p, 10q, and 11q are frequently deleted. Microsatellite instability (MSI), which reflects impaired DNA repair, has been found at low levels in adult melanoma and melanocytic nevi. To investigate the molecular changes in pediatric melanoma, a screening for loss of heterozygosity and microsatellite instability was performed and compared with changes found in adult melanoma. Formalin-fixed, paraffin-embedded tissues from 10 adult melanomas, 9 melanocytic nevi, and 8 pediatric melanomas were microdissected and the DNA was extracted. Loss of heterozygosity and microsatellite instability were evaluated using 13 microsatellite repeat polymorphisms located in 1p36, 1q32, 2p12, 2p22-25, 2q33-37, 9p21, 10q23.3, 11q23, 13q14, 17p13, and 17q21. The overall frequency of loss of heterozygosity was 0.09 for nevi, 0.30 for adult melanoma, and 0.43 for pediatric melanoma (nevi vs. adult melanoma, P = 0.0082; nevi vs. pediatric melanoma, P = 0.0092). Pediatric melanoma has more loss of heterozygosity (44%) in 11q23 than adult melanoma (7%, P = 0.046). The microsatellite instability overall frequency was greater in pediatric melanoma (0.24) than nevi (0.05, P = 0.0031) and adult melanoma (0.09, P = 0.0195). Our findings suggest that pediatric melanoma has a different abnormal pattern than adult melanoma. Pediatric melanoma has more microsatellite instability than adult melanoma. 11q23 could contain genes related to the early age onset of melanoma. The high frequency of microsatellite instability is coincidental with the finding of higher levels of microsatellite instability in pediatric brain tumors and could play a role in the pathogenesis of pediatric melanoma.
dc.format.extent7 páginas
dc.fuente.origenORCID
dc.identifier.doi10.1097/01.dad.0000171599.40562.7c
dc.identifier.issn0193-1091
dc.identifier.urihttp://doi.org/10.1097/01.dad.0000171599.40562.7c
dc.identifier.urihttp://europepmc.org/abstract/med/16121045
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/67136
dc.information.autorucEscuela de Medicina ; Uribe González, Pablo Francisco ; 0000-0002-3573-2338 ; 9032
dc.issue.numero4
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final285
dc.pagina.inicio279
dc.revistaThe American Journal of Dermatopathology
dc.rightsacceso restringido
dc.subjectChildhood melanoma
dc.subjectCutaneous melanoma
dc.subjectLoss of heterozygosity
dc.subjectMicrosatellite instability
dc.subjectPediatric melanoma
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleComparative analysis of loss of heterozygosity and microsatellite instability in adult and pediatric melanoma.
dc.typeartículo
dc.volumen27
sipa.codpersvinculados9032
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