무료번역질문;
Inherited forms of retinoblastoma are autosomal dominant
with high penetrance. The disease may consist of a solitary
mass or multiple tumors in one or both eyes. All bilateral cases
and some unilateral cases are caused by germinal mutations;
however, most unilateral cases are caused by a somatic retinal
mutation. In both situations, the mutation occurs in the
retinoblastoma gene (Rb) at chromosome 13q14. This is a
tumor suppressor gene. One mutated copy may be inherited
in an autosomal dominant fashion (germline mutation). If a
second mutation spontaneously occurs in any cell, tumorigenesis
is likely. Individuals with a germinal mutation are at risk
for the development of tumors other than retinoblastoma
(pineal tumors, osteosarcoma, and other soft tissue sarcomas).
All children with unilateral or bilateral retinoblastoma must
be presumed to have the germline form, and followed expectantly
for other tumors in the remaining eye and at extraocular
sites. Approximately 15% of patients with unilateral disease
have germline mutations.
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