Primary diffuse leptomeningeal atypical teratoid/rhabdoid tumours (ATRT) of childhood: a molecularly characterised case report and literature review.

ABSTRACT:

Background

Atypical teratoid/rhabdoid tumours (ATRTs) are malignant central nervous system tumours, typically presenting in the posterior fossa of very young children. Prognosis remains poor despite current therapy, while tumorigenesis implicates both genomic and epigenetic dysregulation. Primary diffuse leptomeningeal (PDL) ATRT, characterised by the absence of an intraparenchymal mass lesion, is seldom reported but appears associated with a dismal outcome.

Case presentation

We describe a 7-year-old male presenting with a PDL MYC-subgroup ATRT. The patient received multimodal upfront therapy, including high-dose craniospinal radiotherapy, embedded within a chemotherapy backbone. An unexpected clinical and radiological improvement was also observed upon cessation of all ther

SUBMITTER: Stivaros SM 

PROVIDER: S-EPMC11754338 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature