Deletion of Rb1 gene in late osteosarcoma from survivor of unilateral retinoblastoma: a case report.
10.3346/jkms.1996.11.1.94
- Author:
Soo Yong LEE
1
;
Dae Geun JEON
;
Jong Seok LEE
;
Chang Seon HWANG
;
Kwang HUH
;
Tai Won LEE
;
Seok Il HONG
Author Information
1. Department of Orthopedic Surgery, Korea Cancer Center Hospital, Seoul, Korea.
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Rb1 gene deletion;
osteosarcoma;
Unilateral retinoblastoma
- MeSH:
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
- From:Journal of Korean Medical Science
1996;11(1):94-98
- CountryRepublic of Korea
- Language:English
-
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.