Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1 -rearranged neoplasia | Acta Neuropathologica Communications | Full Text

Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1 -rearranged neoplasia | Acta Neuropathologica Communications | Full Text

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 

Acta Neuropathologica Communications volume 7, Article number: 220 (2019) Cite this article

We report a novel ATXN1-NUTM1 gene fusion in a primitive brain tumor (Fig 1a). A 21-year-old woman was seen in an emergency department for symptoms of increased intracranial pressure, visual disturbance and right hemiparesis. She reported unusual headaches for the past 3 weeks. MRI showed a frontal tumor with intratumoral hemorrhage (Fig. 1b). The entire tumor was surgically removed. The patient did not receive any additional treatment. 16 months after surgery, the patient was symptom-free and MRI showed no recurrence of the tumor.