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.

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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
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article

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

Keisuke Goto, Ken D Yamaguchi, Hirohisa Katagiri, Junji Wasa et al.
3 citations
Pathology International
Sarcoma Diagnosis and Treatment
1.26
article

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

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

Abstract

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.

Pathology InternationalVol. 75(1)
Kyushu University (JP), Shizuoka Cancer Center (JP), SRL (Japan) (JP)
Openalex Percentile: Top 18%
Sarcoma Diagnosis and Treatment
1.26
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