Second Propaedeutic Department of Medicine, Attikon University Hospital, 1 Rimini Street, Chaidari, 12462 Athens, Greece.
Department of Genetics, Agios Savvas Anticancer Hospital, Athens, Greece.
Cancer Genet. 2022 Nov;268-269:93-96. doi: 10.1016/j.cancergen.2022.09.012. Epub 2022 Oct 2.
Myxoid spindle cell sarcoma is a rare sarcoma with a demanding histopathologic diagnosis due to the absence of pathognomic immunohistochemistry markers. Genetics include complex karyotypic alterations without characteristic molecular abnormalities for this entity. NTRK alterations are rare findings with great clinical importance since they can be therapeutically targeted with two NTRK inhibitors. Herein we present a case of an adult unclassified myxoid spindle cell sarcoma with ETV6/NTRK3 fusion gene, which is a molecular finding characteristic for infantile fibrosarcoma.
黏液样 spindle 细胞肉瘤是一种罕见的肉瘤,由于缺乏特征性的免疫组织化学标志物,其组织病理学诊断要求较高。遗传学包括复杂的核型改变,但没有该实体特征性的分子异常。NTRK 改变是罕见的发现,具有重要的临床意义,因为它们可以用两种 NTRK 抑制剂进行治疗。本文报告了一例成人未分类的黏液样 spindle 细胞肉瘤,具有 ETV6/NTRK3 融合基因,这是婴儿纤维肉瘤的特征性分子发现。