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

{"title":"Soft Tissue Tumor with PAK2::RAF1 Kinase Fusion: An Emerging Sarcoma Entity.","authors":"Cecilia Haglund, Mikael Behrendtz, Asle Hesla, Felix Haglund de Flon","doi":"10.1159/000540581","DOIUrl":null,"url":null,"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.","PeriodicalId":9625,"journal":{"name":"Case Reports in Oncology","volume":"17 1","pages":"960-965"},"PeriodicalIF":0.7000,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521462/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000540581","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"ONCOLOGY","Score":null,"Total":0}

引用次数: 0

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.

Abstract Image

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

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。

求助全文

约1分钟内获得全文去求助

来源期刊