Soft Tissue Tumor with PAK2::RAF1 Kinase Fusion: An Emerging Sarcoma Entity.

IF 0.7 Q4 ONCOLOGY

Case Reports in Oncology Pub Date : 2024-08-30 eCollection Date: 2024-01-01 DOI:10.1159/000540581

Cecilia Haglund, Mikael Behrendtz, Asle Hesla, Felix Haglund de Flon

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Abstract

Introduction: Here, we report the first case of a soft tissue tumor with a PAK2::RAF1 fusion.

Case presentation: The patient was an 11-year-old female presenting with a 5 cm intramuscular mass in the lower leg. Microscopic examination revealed a mitotically active spindle cell lesion with monomorphic and moderately atypical cells growing in a patternless pattern with the presence of stromal and perivascular keloidal collagen with focal immunoreactivity for smooth muscle actin and S100; negative stains included cytokeratins, CD34, and caldesmon. Whole genome and RNA sequencing detected a chromosome 3 inversion and a resultant PAK2::RAF1 fusion as well as a CDKN2A homozygous deletion. The patient was treated with neoadjuvant chemoradiotherapy with only minimal response and the tumor was excised surgically. There was no evidence of disease progression at 4 months.

Conclusion: This is the first case of a soft tissue tumor harboring a PAK2::RAF1 fusion with histological features in keeping with previous cases of RAF1 and other kinase fusion soft tissue tumors.

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PAK2::RAF1激酶融合的软组织肿瘤：一种新出现的肉瘤实体。

简介：我们在此报告了首例PAK2::RAF1融合的软组织肿瘤：在此，我们报告了首例PAK2::RAF1融合的软组织肿瘤病例：患者是一名 11 岁女性，小腿肌肉内有一个 5 厘米的肿块。显微镜检查发现，有丝分裂活跃的纺锤形细胞病变，单形细胞和中度非典型细胞以无模式生长，基质和血管周围存在瘢痕胶原，平滑肌肌动蛋白和S100呈局灶性免疫反应；细胞角蛋白、CD34和钙化酶呈阴性染色。全基因组和 RNA 测序检测到 3 号染色体倒位和由此产生的 PAK2::RAF1 融合以及 CDKN2A 同源缺失。患者接受了新辅助化疗和放疗，但反应微弱，于是手术切除了肿瘤。4个月后无疾病进展迹象：这是首例携带PAK2::RAF1融合的软组织肿瘤，其组织学特征与之前的RAF1和其他激酶融合软组织肿瘤病例一致。

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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