Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.

ABSTRACT:

Background

Deletion of 1p is associated with poor prognosis in neuroblastoma, however selected 1p-intact patients still experience poor outcomes. Since mutations of 1p genes may mimic the deleterious effects of chromosomal loss, we studied the incidence, spectrum and effects of mutational variants in 1p-intact neuroblastoma.

Methods

We characterized the 1p status of 325 neuroblastoma patients, and correlated the mutational status of 1p tumor suppressors and neuroblastoma candidate genes with survival outcomes among 100 1p-intact cases, then performed functional validation of selected novel variants of 1p36 genes identified from our patient cohort.

Results

Among patients with adverse disease characteristics, those who additionally had 1p deletion had significantly wors

SUBMITTER: Kuick CH 

PROVIDER: S-EPMC9245282 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature