Cecilia Haglund, Mikael Behrendtz, Asle Hesla, Felix Haglund de Flon
{"title":"PAK2::RAF1激酶融合的软组织肿瘤：一种新出现的肉瘤实体。","authors":"Cecilia Haglund, Mikael Behrendtz, Asle Hesla, Felix Haglund de Flon","doi":"10.1159/000540581","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Here, we report the first case of a soft tissue tumor with a <i>PAK2::RAF1</i> fusion.</p><p><strong>Case presentation: </strong>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 <i>PAK2::RAF1</i> 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.</p><p><strong>Conclusion: </strong>This is the first case of a soft tissue tumor harboring a <i>PAK2::RAF1</i> fusion with histological features in keeping with previous cases of <i>RAF1</i> and other kinase fusion soft tissue tumors.</p>","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":"{\"title\":\"Soft Tissue Tumor with <i>PAK2::RAF1</i> 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\":\"<p><strong>Introduction: </strong>Here, we report the first case of a soft tissue tumor with a <i>PAK2::RAF1</i> fusion.</p><p><strong>Case presentation: </strong>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 <i>PAK2::RAF1</i> 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.</p><p><strong>Conclusion: </strong>This is the first case of a soft tissue tumor harboring a <i>PAK2::RAF1</i> fusion with histological features in keeping with previous cases of <i>RAF1</i> and other kinase fusion soft tissue tumors.</p>\",\"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}","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}
Soft Tissue Tumor with PAK2::RAF1 Kinase Fusion: An Emerging Sarcoma Entity.
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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