Soft tissue tumor with <i>BRAF</i> and <i>NRAS</i> mutations sharing features with <i>NTRK</i>‐rearranged spindle cell neoplasm: A case report expanding the spectrum of spindle cell tumor with kinase gene alterations
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.
Authors
- Keisuke Goto (ORCID: https://orcid.org/0000-0002-4165-1809)
- Ken D Yamaguchi (ORCID: https://orcid.org/0000-0002-7669-1405)
- Hirohisa Katagiri
- Junji Wasa
- Yuko Kakuda
- Shunichi Toki
- Kan Ito
- Takashi Sugino (ORCID: https://orcid.org/0000-0002-0205-0525)
- Takeshi Nagashima (ORCID: https://orcid.org/0000-0002-7261-9908)
- Takuya Kawata (ORCID: https://orcid.org/0000-0003-0237-237X)
- Ikuma Kato (ORCID: https://orcid.org/0000-0002-7731-9509)
- Ryo Satake
- Taro Mori
- Yoshinao Oda
- Mitsuru Takahashi
- Hideki Murata
Institutions
- Kyushu University (JP)
- Shizuoka Cancer Center (JP)
- SRL (Japan) (JP)
Publication Details
- Journal
- Pathology International
- Published
- 2024-12-06
- DOI
- https://doi.org/10.1111/pin.13499
- Citations
- 3
- Primary Topic
- Sarcoma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 1.26