Diffuse infiltrating tumour with the molecular profile of an atypical teratoid rhabdoid tumour (AT/RT SHH-1B) in an adult patient

Fleur Cordier; Joost W Schouten; Marjolein Geurts; Johan M Kros; Hendrikus J Dubbink; Vincent Verlinden; Aniello Federico; Marcel Kool; Sybren L N Maas

doi:10.1111/nan.12983

Diffuse infiltrating tumour with the molecular profile of an atypical teratoid rhabdoid tumour (AT/RT SHH-1B) in an adult patient

Neuropathol Appl Neurobiol. 2024 Jun;50(3):e12983. doi: 10.1111/nan.12983.

Authors

Fleur Cordier^{1

2}, Joost W Schouten³, Marjolein Geurts⁴, Johan M Kros¹, Hendrikus J Dubbink¹, Vincent Verlinden⁵, Aniello Federico^{6

7}, Marcel Kool^{6

7

8

9}, Sybren L N Maas^{1

10}

Affiliations

¹ Department of Pathology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands.
² Department of Pathology, University Hospital Ghent, Ghent, Belgium.
³ Department of Neurosurgery, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands.
⁴ Department of Neurology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands.
⁵ Department of Radiology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, The Netherlands.
⁶ Hopp Childrens Cancer Center (KiTZ), Heidelberg, Germany.
⁷ German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany.
⁸ Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
⁹ University Medical Center Utrecht, Utrecht, The Netherlands.
¹⁰ Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

PMID: 38708554
DOI: 10.1111/nan.12983

Abstract

We describe a 46-year-old patient with an IDH-wildtype diffusely infiltrating atypical teratoid/rhabdoid tumour (AT/RT), SHH-1B molecular subtype. The unusual histology and subsequent diagnosis in an adult patient will be discussed.

Keywords: atypical teratoid/rhabdoid tumour; methylation sequencing; molecular techniques; neuro‐oncology.

Publication types

Case Reports

MeSH terms

Brain Neoplasms* / genetics
Brain Neoplasms* / pathology
Hedgehog Proteins / genetics
Humans
Male
Middle Aged
Rhabdoid Tumor* / genetics
Rhabdoid Tumor* / pathology
Teratoma* / genetics
Teratoma* / pathology

Substances

Hedgehog Proteins
SHH protein, human

Supplementary concepts

Typical Teratoid Rhabdoid Tumor