Spatial molecular profiling of a central nervous system low-grade diffusely infiltrative tumour with INI1 deficiency featuring a high-grade atypical teratoid/rhabdoid tumour component

Matthias Dottermusch; Yannis Schumann; Uwe Kordes; Martin Hasselblatt; Julia E Neumann

doi:10.1111/nan.12777

Spatial molecular profiling of a central nervous system low-grade diffusely infiltrative tumour with INI1 deficiency featuring a high-grade atypical teratoid/rhabdoid tumour component

Neuropathol Appl Neurobiol. 2022 Apr;48(3):e12777. doi: 10.1111/nan.12777. Epub 2021 Dec 2.

Authors

Matthias Dottermusch^{1

2}, Yannis Schumann³, Uwe Kordes⁴, Martin Hasselblatt⁵, Julia E Neumann^{1

2}

Affiliations

¹ Center for Molecular Neurobiology (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
² Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
³ Department of Mechanical Engineering, High Performance Computing, Helmut Schmidt University Hamburg, Hamburg, Germany.
⁴ Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁵ Institute of Neuropathology, University Hospital Münster, Münster, Germany.

PMID: 34820878
DOI: 10.1111/nan.12777

Abstract

We performed spatial epigenetic and transcriptomic analyses of a highly unusual low-grade diffusely infiltrative tumour with INI1 deficiency (CNS LGDIT-INI1), which harboured a high-grade component corresponding to an atypical teratoid/rhabdoid tumour (AT/RT). Methylation profiles of both low-grade and high-grade components yielded high similarity with AT/RTs of the MYC subgroup, whereas RNA expression analyses revealed increased translational activity and MYC pathway activation in the high-grade component. Close follow-up of patients harbouring CNS LGDIT-INI1 is warranted.

Keywords: DNA methylation; NanoString GeoMx DSP; atypical teratoid/rhabdoid tumour; low-grade diffusely infiltrative tumour with INI1 deficiency; spatial molecular analysis.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Central Nervous System / pathology
Central Nervous System Neoplasms* / genetics
Central Nervous System Neoplasms* / pathology
Humans
Rhabdoid Tumor* / metabolism
SMARCB1 Protein / genetics
Teratoma* / genetics
Teratoma* / metabolism

Substances

SMARCB1 Protein