Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia

Aurore Siegfried, Julien Masliah-Planchon, Franck-Emmanuel Roux, Delphine Larrieu-Ciron, Gaelle Pierron, Yvan Nicaise, Marion Gambart, Isabelle Catalaa, Sarah Péricart, Charlotte Dubucs, Badreddine Mohand-Oumoussa, Franck Tirode, Franck Bourdeaut, Emmanuelle Uro-Coste, Aurore Siegfried, Julien Masliah-Planchon, Franck-Emmanuel Roux, Delphine Larrieu-Ciron, Gaelle Pierron, Yvan Nicaise, Marion Gambart, Isabelle Catalaa, Sarah Péricart, Charlotte Dubucs, Badreddine Mohand-Oumoussa, Franck Tirode, Franck Bourdeaut, Emmanuelle Uro-Coste

No abstract available

Keywords: ATXN1; Central nervous system; DNA methylation-based classification; NUTM1; NUTM1-rearranged neoplasia; Oncogenic gene fusions, CIC-ATXN1-ATXN1L axis; RNA sequencing.

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
ATXN1-NUTM1 gene fusion, confirmed by RT-PCR and Sanger sequencing (a). MRI identified a frontal mass. Enhancement after contrast injection (T1) (b). Representative histopathology. On the left, loose area with neuron-like tumor cells (*detail). On the right, increase in cell density (c). Fascicular architecture with three mitoses (arrows) (d). Chondroid-like, myxoid and hyalinized areas were observed (e). Undifferentiated cells with large nucleoli in a chondromyxoid background (f). Strong GFAP staining was observed. Tumor showed vascular proliferation (g). Neurofilament staining circumscribed the tumor mass with no significant staining within the tumor (h). p53 accumulated in tumor nuclei (i). Anti-NUT antibody staining showing homogeneous intranuclear expression (j)

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