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.

IF 2.5 4区医学 Q2 PATHOLOGY

Pathology International Pub Date : 2025-01-01 Epub Date: 2024-12-06 DOI:10.1111/pin.13499

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

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引用次数: 0

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.

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BRAF和NRAS突变的软组织肿瘤与ntrk重排梭形细胞肿瘤具有共同的特征：一例报告扩大了激酶基因改变的梭形细胞肿瘤的谱。

ntrk重排梭形细胞肿瘤是一类以NTRK1/2/3基因融合为特征的肿瘤。最近，其他激酶融合基因的肿瘤被报道表现出类似的形态。在此，我们讨论了一种成人发病的软组织肿瘤，其组织学模式与激酶基因融合相关肿瘤相似，但存在BRAF和NRAS突变。一位40多岁的女性在她的足关节软组织中有一个40毫米的肿瘤，边界不清楚。肿瘤细胞呈短梭形增生，有丰富的毛细血管和胶原纤维束。肿瘤浸润皮下脂肪组织，表现为脂肪纤维瘤样病变。免疫组化结果显示，肿瘤细胞共表达CD34、S-100和BRAF V600E。全外显子组测序显示BRAF p.V600E和NRAS p.Q61K突变。由于BRAF激活发生在BRAF融合基因肿瘤和BRAF突变中，它们在肿瘤发生中可能具有相似的机制。本病例提示激酶相关梭形细胞肿瘤进一步扩大。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pathology International 医学-病理学

CiteScore

4.50

自引率

4.50%

发文量

102

审稿时长

12 months

期刊介绍： Pathology International is the official English journal of the Japanese Society of Pathology, publishing articles of excellence in human and experimental pathology. The Journal focuses on the morphological study of the disease process and/or mechanisms. For human pathology, morphological investigation receives priority but manuscripts describing the result of any ancillary methods (cellular, chemical, immunological and molecular biological) that complement the morphology are accepted. Manuscript on experimental pathology that approach pathologenesis or mechanisms of disease processes are expected to report on the data obtained from models using cellular, biochemical, molecular biological, animal, immunological or other methods in conjunction with morphology. Manuscripts that report data on laboratory medicine (clinical pathology) without significant morphological contribution are not accepted.