神经母细胞瘤RAS病毒癌基因同源物
融合基因
病理
癌变
癌症研究
生物
癌症
突变
医学
基因
克拉斯
遗传学
生物化学
作者
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
摘要
Abstract NTRK ‐rearranged spindle cell neoplasm is a group of tumors characterized by NTRK 1/2/3 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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