Loss of 10p material in a child with human papillomavirus-positive disseminated bilateral retinoblastoma.
Retinoblastoma (RB) is a malignant childhood tumor that results from loss or inactivation of both alleles of the RB1 gene. Human papillomavirus (HPV) DNA sequences have been found in RB tissue, suggesting a role of the viral infection with RB. We here describe a child with disseminated bilateral RB without familial history, who displayed a loss of material from 10p. Fluorescence in situ hybridization studies showed a somatic loss of both alleles of the RB1 gene. Moreover, sequences for HPV-6a were detected on DNA extracted from eye tumor tissue and from nonstimulated peripheral blood leukocyte cultures. The eye tumor tissue was also positive for HPV L1 viral proteins. Repeated loss of the short arm of chromosome 10 in HPV-transfected keratinocytes has been reported. Loss of heterozygosity in 10p14 approximately p15 is also frequent in cervical cancers. Therefore, it seems probable that the abnormalities on 10p detected in the present case are related to the HPV infection. Thus, HPV could be a cofactor in the progression of RB by promoting nonrandom additional mutations.
Espinoza
Juan Pablo Meza
JP
Doctorado en Genetica Humana, Universidad de Guadalajara, Sierra Mojada 800, Colonia Independencia, Guadalajara, Jalisco, Mexico.
Cardenas
Veronica Judith Picos
VJ
Luna
Carlos Aguilar
CA
Fuentes
Hector Montoya
HM
Camacho
Gonzalo Vazquez
GV
Carrera
Francisco Mendoza
FM
Garcia
Juan Ramon Gonzalez
JR
D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D004279:DNA, Viral / Q000032:analysis; D005134:Eye Neoplasms / Q000235:genetics* / Q000821:virology; D005260:Female; D006801:Humans; D007223:Infant; D009378:Neoplasms, Multiple Primary; D027383:Papillomaviridae / Q000302:isolation & purification*; D016133:Polymerase Chain Reaction; D012175:Retinoblastoma / Q000235:genetics* / Q000821:virology
D004279:DNA, Viral