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Soft‐tissue sarcoma with MN1‐BEND2 fusion: A case report and comparison with astroblastoma by Akihiko Yoshida; Kaishi Satomi; Eisuke Kobayashi; Eijitsu Ryo; Yuko Matsushita; Yoshitaka Narita; Koichi Ichimura; Akira Kawai; Taisuke Mori is a Medicine article available to read on EtoBox.

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## Abstract MN1‐BEND2 is considered as a defining gene fusion of astroblastoma. Herein, we report the first case of soft‐tissue sarcoma with this fusion. The tumor developed in the abdominal wall of an 87‐year‐old woman, and consisted of a striking storiform growth of low‐grade spindle cells admixed with a dense proliferation of oval cells with a higher nuclear atypia and mitotic activity. The sarcoma was immunohistochemically positive for actin but negative for S100 protein, glial fibrillary acidic protein, and Olig2. Targeted RNA sequencing identified an in‐frame MN1 (exon 1)‐BEND2 (exon 11) fusion transcript, which was validated by reverse transcription polymerase chain reaction, Sanger sequencing, and MN1 break‐apart fluorescence in situ hybridization. DNA methylation profiling revealed that the tumor did not match any sarcoma classes based on the DKFZ classifier. Using T‐distributed stochastic neighbor embedding analysis, the sarcoma was plotted close to the provisional class “Sarcoma (malignant peripheral nerve sheath tumor‐like),” despite no phenotypic resemblance. Copy number analysis using methylation data demonstrated losses at 2q, 8p, 9p, 11p, 14q, 19q, and 22q. When com

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Author

Akihiko Yoshida; Kaishi Satomi; Eisuke Kobayashi; Eijitsu Ryo; Yuko Matsushita; Yoshitaka Narita; Koichi Ichimura; Akira Kawai; Taisuke Mori

Publisher

Wiley

Published

2022

Language

EN

Field

Medicine (Life Sciences)