J Korean Med Sci.  1996 Feb;11(1):94-98. 10.3346/jkms.1996.11.1.94.

Deletion of Rb1 gene in late osteosarcoma from survivor of unilateral retinoblastoma: a case report

• Lee SY
• Jeon DG
• Lee JS
• Hwang CS
• Huh K
• Lee TW
• Hong SI

• KMID: 932138
• DOI: http://doi.org/10.3346/jkms.1996.11.1.94

Abstract

It has been well known that the survivors of retinoblastoma are prone to have osteosarcoma. But the secondary tumor usually occurs in bilateral, hereditary type of retinoblastoma. We report one case of osteosarcoma in a survivor of unilateral, sporadic retinoblastoma. A fourteen year old male presented with a painfully swollen distal forearm of 2 month duration. He had enucleated his left eye 10 years ago due to retinoblastoma with no other adjuvant therapy. We managed him with our conventional protocol and identified deletion of Rb gene from his pathological specimen by using the PCR-RFLP method. This result is unusual for unilateral nonhereditable retinoblastoma and may suggest gene level change even in sporadic cases. And Rb gene study may be helpful for unilateral, sporadic retinoblastoma patient in detecting the possibility of late osteosarcoma.

Keyword

Rb1 gene deletion; osteosarcoma; Unilateral retinoblastoma

MeSH Terms

Adolescent
Base Sequence
Case Report
DNA Primers
*Gene Deletion
*Genes, Retinoblastoma
Human
Magnetic Resonance Imaging
Male
Molecular Sequence Data
Osteosarcoma/complications/*genetics/pathology
Retinoblastoma/complications/*genetics/pathology
Support, Non-U.S. Gov't
Survivors