J Korean Cancer Assoc.  1997 Apr;29(2):291-298.

Germline Mutation of Rb1 Gene in Korean Retinoblastoma Patients

• Ku JL
• Yu YS
• Park JG

Abstract

PURPOSE: Retinoblastoma is an intraocular tumor occurring almost exclusively in young children. Germline mutations 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.
MATERIALS AND METHODS
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 patient (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.
RESULTS
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.
CONCLUSION
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.

Keyword

Retinoblastoma; Rb1 gene; PCR-SSCP; DNA sequencing; mutation

MeSH Terms

Central Nervous System
Child
Codon
Diagnosis
Exons
Germ-Line Mutation*
Humans
Mutation, Missense
Nasal Cavity
Osteosarcoma
Point Mutation
Retinoblastoma*
Sequence Analysis, DNA
Codon