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Please use this identifier to cite or link to this item: http://hdl.handle.net/1807/24655

Title: A Subset of Retinoblastoma Lacking RB1 Gene Mutations have High-level MYCN Gene Amplification
Authors: Yee, Stephanie
Advisor: Gallie, Brenda L.
Department: Molecular and Medical Genetics
Keywords: Retinoblastoma
Genetics
MYCN
aCGH
Issue Date: 29-Jul-2010
Abstract: Retinoblastoma is the prototype genetic cancer caused by mutations disrupting the RB1 tumor suppressor gene. Following loss of RB1, retinoblastoma acquires further genetic changes in a characteristic set of oncogenes and tumor suppressors including gains of the oncogenes KIF14, DEK, E2F3, and MYCN and loss of the tumor suppressor CDH11. The constellation of genetic changes is the postulated genetic pathway leading to retinoblastoma. However, advances in molecular diagnostic testing for RB1 gene mutations allows detection of at least one RB1 mutation in 98% of unilateral retinoblastomas leaving 2% of cases with undetectable RB1 mutations (RB1+/+ retinoblastoma). RB1+/+ retinoblastomas have high-level MYCN gene amplification (>30 copies) and few other genetic changes. In addition, RB1+/+ retinoblastoma present earlier than conventional RB1-/- retinoblastoma and show histologic features similar to MYCN-amplified neuroblastoma. Altogether, this study describes a distinct genetic subset of retinoblastoma characterized by wild-type RB1 gene and high-level MYCN gene amplification.
URI: http://hdl.handle.net/1807/24655
Appears in Collections:Master
Department of Molecular Genetics - Master theses

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