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Soft tissue tumor with BRAF and NRAS mutations sharing features with NTRK-rearranged spindle cell neoplasm: A case report expanding the spectrum of spindle cell tumor with kinase gene alterations

  • Yuko Kakuda
  • , Ikuma Kato
  • , Takuya Kawata
  • , Keisuke Goto
  • , Kan Ito
  • , Ryo Satake
  • , Shunichi Toki
  • , Hideki Murata
  • , Junji Wasa
  • , Hirohisa Katagiri
  • , Mitsuru Takahashi
  • , Takeshi Nagashima
  • , Taro Mori
  • , Yoshinao Oda
  • , Takashi Sugino
  • , Ken Yamaguchi

研究成果: ジャーナルへの寄稿学術誌査読

3   !!Link opens in a new tab 被引用数 (Scopus)

抄録

NTRK-rearranged spindle cell neoplasm is a group of tumors characterized by NTRK1/2/3 gene fusion. Recently, tumors with other kinase fusion genes were reported to exhibit similar morphologies. Herein, we discuss an adult-onset soft tissue tumor with similar histologic patterns as kinase gene fusion-related tumors but with BRAF and NRAS mutations. A female in her 40s had a 40 mm tumor with an unclear border in the soft tissue of her foot joint. Short spindle-shaped tumor cell proliferation with abundant capillaries and collagen fiber bundles were observed. The tumor infiltrated the subcutaneous adipose tissue, exhibiting a lipofibromatosis-like pattern. Immunohistochemically, the tumor cells coexpressed CD34, S-100, and BRAF V600E. Whole-exome sequencing revealed BRAF p.V600E and NRAS p.Q61K mutations. Since BRAF activation occurs in BRAF fusion gene tumors and BRAF mutations, they could share a similar mechanism in tumorigenesis. This case suggests the further expansion of kinase-related spindle cell tumors.

本文言語英語
ページ(範囲)40-45
ページ数6
ジャーナルPathology International
75
1
DOI
出版ステータス出版済み - 1月 2025

!!!All Science Journal Classification (ASJC) codes

  • 病理学および法医学

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