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

doi:10.1186/s40478-019-0870-8

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

Acta Neuropathol Commun. 2019 Dec 30;7(1):220. doi: 10.1186/s40478-019-0870-8.

Authors

Aurore Siegfried^{1

2}, Julien Masliah-Planchon^{3

4}, Franck-Emmanuel Roux¹, Delphine Larrieu-Ciron¹, Gaelle Pierron⁵, Yvan Nicaise², Marion Gambart¹, Isabelle Catalaa¹, Sarah Péricart¹, Charlotte Dubucs¹, Badreddine Mohand-Oumoussa⁶, Franck Tirode⁷, Franck Bourdeaut^{3

4}, Emmanuelle Uro-Coste^{8

9}

Affiliations

¹ Departments of Pathology, Neurology, Neurosurgery, Radiology and Pediatric Oncology, Toulouse University Hospital, Toulouse, France.
² INSERM U1037, Cancer Research Center of Toulouse (CRCT), Toulouse, France.
³ Departments of Genetics and of Oncopediatry and Young Adults, Curie Institute, Paris, France.
⁴ INSERM U830, Laboratory of Translational Research in Pediatric Oncology, SIREDO pediatric oncology center, Curie Institute, Paris, France.
⁵ Department of Somatic Genetics, Curie Institute, Paris, France.
⁶ Plateforme Post-génomique P3S, Faculté de Médecine Pierre et Marie Curie, Paris, France.
⁷ INSERM 1052, CNRS 5286, Cancer Research Center of Lyon, Centre Léon Bérard, Claude Bernard Lyon 1 University, Lyon, France.
⁸ Departments of Pathology, Neurology, Neurosurgery, Radiology and Pediatric Oncology, Toulouse University Hospital, Toulouse, France. uro-coste.e@chu-toulouse.fr.
⁹ INSERM U1037, Cancer Research Center of Toulouse (CRCT), Toulouse, France. uro-coste.e@chu-toulouse.fr.

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.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Ataxin-1 / genetics*
Brain Neoplasms / genetics*
Brain Neoplasms / pathology*
Female
Gene Fusion*
Humans
Neoplasm Proteins / genetics*
Nuclear Proteins / genetics*
Young Adult

Substances

ATXN1 protein, human
Ataxin-1
NUTM1 protein, human
Neoplasm Proteins
Nuclear Proteins