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
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...
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Veröffentlicht in: | Neuropathology and applied neurobiology 2022-04, Vol.48 (3), p.e12777-n/a |
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description | 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. |
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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. 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subjects | atypical teratoid/rhabdoid tumour Central nervous system DNA methylation Epigenetics low‐grade diffusely infiltrative tumour with INI1 deficiency Methylation NanoString GeoMx DSP spatial molecular analysis Transcriptomics Tumors |
title | 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 |
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