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- Title
A novel PARD3B-NUTM1 fusion in an aggressive primary CNS embryonal tumor in a young adult.
- Authors
Ko, Kyungmin; Kitani, Takashi; Harris, Brent T.; Anaizi, Amjad N.; Solomon, David; Perry, Arie; Toretsky, Jeffrey; Ozdemirli, Metin
- Abstract
Keywords: CNS embryonal tumor; NUT carcinoma; NUTM1; Next-generation sequencing EN CNS embryonal tumor NUT carcinoma NUTM1 Next-generation sequencing 1 4 4 07/20/20 20200717 NES 200717 Main text We report a novel I PARD3B-NUTM1 i gene fusion in a primary embryonal tumor of the brain which had a very aggressive course. PARD3B-NUTM1 gene fusion, discovered by NGS of tumor DNA, predicts a fusion protein (l) Microscopic sections showed a relatively well-circumscribed, moderately cellular neoplasm. The tumor cells showed strong nuclear p53 and c-Myc expression in most tumor cells and had a high Ki-67 (MIB-1) proliferative index (approximated at 60%). As our case illustrates, utilization of NGS for routine diagnostic workup of primitive appearing CNS tumors may uncover more I NUTM1 i -rearranged tumors with different fusion partners.
- Subjects
YOUNG adults; SOFT tissue tumors; TUMORS; CENTRAL nervous system tumors
- Publication
Acta Neuropathologica Communications, 2020, Vol 8, Issue 1, p1
- ISSN
2051-5960
- Publication type
Letter
- DOI
10.1186/s40478-020-00991-w