Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma.

ABSTRACT: A small, but unique subgroup of retinoblastoma has been identified with no detectable mutation in the retinoblastoma gene (RB1) and with high levels of MYCN gene amplification. This manuscript investigated alternate pathways of inactivating pRb, the encoded protein in these tumors. We analyzed the mutation status of the RB1 gene and MYCN copy number in a series of 245 unilateral retinoblastomas, and the phosphorylation status of pRb in a subset of five tumors using immunohistochemistry. There were 203 tumors with two mutations in RB1 (RB1^-/- , 83%), 29 with one (RB1^+/- , 12%) and 13 with no detectable mutations (RB1^+/+ , 5%). Eighteen tumors carried MYCN amplification between 29 and 110 copies: 12 had two (RB1^-/- ) or one RB1 (RB1^+/- )

SUBMITTER: Ewens KG 

PROVIDER: S-EPMC5345671 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature