Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT-MYC

Martin Hasselblatt; Christian Thomas; Aniello Federico; Susanne Bens; Mats Hellström; Olivera Casar-Borota; Uwe Kordes; Julia E Neumann; Matthias Dottermusch; Fausto J Rodriguez; Andrea C Lo; Sylvia Cheng; Glenda Hendson; Juliette Hukin; Christian Hartmann; Arend Koch; David Capper; Reiner Siebert; Werner Paulus; Karolina Nemes; Pascal D Johann; Michael C Frühwald; Marcel Kool

doi:10.1111/nan.12797

Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT-MYC

Neuropathol Appl Neurobiol. 2022 Jun;48(4):e12797. doi: 10.1111/nan.12797. Epub 2022 Feb 18.

Authors

Martin Hasselblatt¹, Christian Thomas¹, Aniello Federico^{2

3}, Susanne Bens⁴, Mats Hellström⁵, Olivera Casar-Borota^{5

6}, Uwe Kordes⁷, Julia E Neumann^{8

9}, Matthias Dottermusch^{8

9}, Fausto J Rodriguez¹⁰, Andrea C Lo¹¹, Sylvia Cheng¹², Glenda Hendson¹³, Juliette Hukin¹², Christian Hartmann¹⁴, Arend Koch¹⁵, David Capper^{15

16}, Reiner Siebert⁴, Werner Paulus¹, Karolina Nemes¹⁷, Pascal D Johann^{2

3

17}, Michael C Frühwald¹⁷, Marcel Kool^{2

3

18}

Affiliations

¹ Institute of Neuropathology, University Hospital Münster, Münster, Germany.
² Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
³ Division of Paediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany.
⁴ Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
⁵ Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
⁶ Department of Clinical Pathology, Uppsala University Hospital, Uppsala, Sweden.
⁷ Department of Pediatric Hematology and Oncology, University Medical Center, Hamburg, Germany.
⁸ Institute of Neuropathology, University Medical Center, Hamburg, Germany.
⁹ Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
¹⁰ Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
¹¹ Radiation Oncology, British Columbia Cancer and University of British Columbia, Vancouver, Canada.
¹² Division of Hematology, Oncology and BMT, Department of Pediatrics, University of British Columbia, Vancouver, Canada.
¹³ Department of Pathology, BC Women and Children's Hospital, Vancouver, Canada.
¹⁴ Department of Neuropathology, Institute of Pathology, Hannover Medical School, Hannover, Germany.
¹⁵ Department of Neuropathology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
¹⁶ German Cancer Consortium (DKTK), Partner Site Berlin, German Cancer Research Center (DKFZ), Heidelberg, Germany.
¹⁷ Pediatric and Adolescent Medicine, Swabian Childrens' Cancer Center, University Childrens' Hospital Medical Center Augsburg and EU-RHAB Registry, Augsburg, Germany.
¹⁸ Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.

PMID: 35152461
DOI: 10.1111/nan.12797

Abstract

Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant, is a histopathological distinct low-grade lesion encountered in older children and young adults that shows epigenetic similarity with ATRT-MYC and has the potential for malignant progression.

Keywords: DNA methylation profiling; atypical teratoid/rhabdoid tumour; central nervous system low-grade diffusely infiltrative tumour with INI1 deficiency; neuropathology.

Publication types

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

MeSH terms

Child
Epigenesis, Genetic
Humans
Rhabdoid Tumor* / pathology
SMARCB1 Protein / genetics
Teratoma*
Young Adult

Substances

SMARCB1 Protein
SMARCB1 protein, human