TY - JOUR
T1 - Soft tissue tumor with BRAF and NRAS mutations sharing features with NTRK-rearranged spindle cell neoplasm
T2 - A case report expanding the spectrum of spindle cell tumor with kinase gene alterations
AU - Kakuda, Yuko
AU - Kato, Ikuma
AU - Kawata, Takuya
AU - Goto, Keisuke
AU - Ito, Kan
AU - Satake, Ryo
AU - Toki, Shunichi
AU - Murata, Hideki
AU - Wasa, Junji
AU - Katagiri, Hirohisa
AU - Takahashi, Mitsuru
AU - Nagashima, Takeshi
AU - Mori, Taro
AU - Oda, Yoshinao
AU - Sugino, Takashi
AU - Yamaguchi, Ken
N1 - Publisher Copyright:
© 2024 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.
PY - 2025/1
Y1 - 2025/1
N2 - 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.
AB - 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.
KW - BRAF activating mutation
KW - NRAS mutation
KW - NTRK-rearranged spindle cell neoplasm
KW - immunohistochemistry
KW - whole exome sequence
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U2 - 10.1111/pin.13499
DO - 10.1111/pin.13499
M3 - Article
C2 - 39641230
AN - SCOPUS:85210943041
SN - 1320-5463
VL - 75
SP - 40
EP - 45
JO - Pathology International
JF - Pathology International
IS - 1
ER -