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KMID : 0360319970290020291
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Journal of Korean Cancer Research Association
1997 Volume.29 No. 2 p.291 ~ p.298
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Germline Mutation of Rb1 Gene in Korean Retinoblastoma Patients
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Abstract
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Purpose:
@EN Retinoblastoma is an intraocular tumor occurring almost exclusively in young children. Germline in the Rb1 gene confer hereditary predisposition to retinoblastoma. To identify germline mutations in the Rb1 gene in Korean retinoblastoma
patients, we
analyzed germline mutations of the Rb1 gene in 4 Korean retinoblastoma patients from 3 families.
@ES Materials and Methods;
@EN All patients were bilaterally affected in early childhood. First patient and second patient were same family members(SNU-RB1-1 and 2), and in the third patient(SNU-RB2), tumor cells had metastasized to the central nervous system 2 years after
treatment of retinoblastoma. Fourth patients(SNU-RB3) developed secondary osteosarcoma in the nasal cavity 15 years after treatment of retinoblastoma. We have used PCR-SSCP analysis and DNA sequencing analysis to screen germline mutations.
@ES Results:
@EN We found one missense mutation in the fourth patient(SNU-RB3). This was a point mutation from AAA(lysine) to GAA(glutamine) at codon 616 in exon 19 of the Rb1 gene.
@ES Conclusion:
@EN We confirmed one germline mutation of the Rb1 gene in one Korean patient who had a sporadic bilateral retinoblastoma and osteosarcoma. Identification of the germline mutation in Rb1 gene would help to improve the presymptomatic diagnosis and
clinical management of retinoblastoma patients.
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KEYWORD
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