Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?

ABSTRACT:

Background

Autism spectrum disorders (ASDs) are neurodevelopmental disorders with impaired social interactions and communication and restrictive, repetitive patterns of behaviors, interests, and activities. A recent epidemiological study suggests that children with ASD might have an increased cancer risk.

Case presentation

The 14.5-year-old boy, previously diagnosed with ASD, was referred with persistent bone pain. Diagnostic work-up confirmed diagnosis of acute lymphoblastic leukemia (ALL); cytogenetic analysis revealed low hypodiploid karyotype with a mutation (c.733G>A, p.Gly245Ser, rs28934575) in TP53 in the leukemic blasts. By Sanger sequencing, the presence of this mutation in the germline was subsequently confirmed and, thus, diagnosis of Li-Fraumeni syndrome (LFS) wa

SUBMITTER: Kuhlen M 

PROVIDER: S-EPMC5629188 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature