Which is more common? Sporadic or Familial Retinoblastoma! - USMLE Forums
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Old 01-17-2013
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Question Which is more common? Sporadic or Familial Retinoblastoma!

Dr. Sattar in lectures says its familial because one gene is already mutated
Dr. Robbins in questions says its sporadic.

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Old 01-17-2013
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According to Goljan, 40% is inherited and the rest is sporadic (about 60%). I'm not sure why there is inconsistency btw those two sources you mentioned. In order for someone to inherit retinoblastoma they would have to inherit a mutant Rb gene (normally there is two genes, so in these patients one copy is mutated and the one is fully functional). Most patients with one copy mutation will not display any symptoms unless the second copy gets mutated by environmental factors (radiation, viruses etc) which will now put them at a high risk for: ROB--> Retinoblastoma, Osteogenic sarcoma, Breast cancer.
In the sporadic case, something happens during their life time that deactivates both copies.
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Old 01-18-2013
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Quote:
Originally Posted by SarahM View Post
According to Goljan, 40% is inherited and the rest is sporadic (about 60%). I'm not sure why there is inconsistency btw those two sources you mentioned. In order for someone to inherit retinoblastoma they would have to inherit a mutant Rb gene (normally there is two genes, so in these patients one copy is mutated and the one is fully functional). Most patients with one copy mutation will not display any symptoms unless the second copy gets mutated by environmental factors (radiation, viruses etc) which will now put them at a high risk for: ROB--> Retinoblastoma, Osteogenic sarcoma, Breast cancer.
In the sporadic case, something happens during their life time that deactivates both copies.
thanks for reply. i love your mnemonic ROB ! thanks for share !
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