PDF(Pubmed)
Abstract：
NTRK-rearranged spindle cell neoplasms (NTRK-RSCNs) are a new category of soft tissue tumors with NTRK gene fusions. The present study aimed to investigate the radiological features of NTRK-RSCNs and their association with histopathological findings. The present study included six patients with NTRK-RSCNs, whose fusion genes were confirmed using next-generation sequencing. All patients underwent surgery, and their diagnosis and clinical outcomes were investigated. In addition, the magnetic resonance imaging (MRI) features of all tumors and histopathological findings of the resected specimens were assessed. The present study included three women and three men, with a mean age of 22 years (range, 2-43 years). The NTRK gene fusions included four NTRK1 and two NTRK3 fusions. Three patients were preoperatively diagnosed with solitary fibrous tumors. One patient with NTRK3 fusion experienced local recurrence and distant metastases, whereas the other five patients had no local recurrence or metastasis. MRI revealed that all tumors were highly vascular with intra- and peritumoral flow voids of differing degrees. Furthermore, a partially ill-defined border, suggesting infiltration of tumors into the surrounding tissues, particularly fat tissue, was observed in five patients, which was confirmed by histopathological findings. In conclusion, NTRK-RSCNs are highly vascular tumors that can infiltrate the surrounding tissues. These findings suggested that NTRK-RSCNs should be considered in the differential diagnosis of highly vascular-rich mesenchymal tumors, including solitary fibrous tumors and alveolar soft part sarcomas. Furthermore, wide resection may be preferred to completely resect this type of tumor, considering its invasive nature.
摘要：
NTRK重排梭形细胞肿瘤(NTRK-RSCNs)是一类新的具有NTRK基因融合的软组织肿瘤。本研究旨在研究NTRK-RSCN的放射学特征及其与组织病理学发现的关联。本研究包括6例NTRK-RSCNs患者，使用下一代测序确认了其融合基因。所有患者都接受了手术，并对其诊断和临床结局进行了调查.此外,评估了所有肿瘤的磁共振成像(MRI)特征和切除标本的组织病理学发现.本研究包括三名女性和三名男性，平均年龄22岁(范围，2-43岁）。NTRK基因融合包括四个NTRK1和两个NTRK3融合。3例患者术前诊断为孤立性纤维瘤。一名NTRK3融合患者出现局部复发和远处转移，而其他5例患者无局部复发或转移。MRI显示所有肿瘤都是高度血管化的，肿瘤内和肿瘤周围的血流空隙程度不同。此外，一个部分不明确的边界，提示肿瘤浸润到周围组织，特别是脂肪组织，在五名患者中观察到，组织病理学发现证实了这一点。总之,NTRK-RSCN是可以浸润周围组织的高度血管性肿瘤。这些发现提示NTRK-RSCNs在高度血管丰富的间充质肿瘤的鉴别诊断中应该考虑。包括孤立性纤维瘤和肺泡软组织肉瘤。此外，广泛切除可能是完全切除这种类型的肿瘤的首选，考虑到它的侵入性。
