Haglund Cecilia, Behrendtz Mikael, Hesla Asle, Haglund de Flon Felix
Department of Oncology-Pathology, Karolinska Institutet, Solna, Sweden.
Pathology and Cancer Diagnostics, Karolinska University Hospital, Solna, Sweden.
Case Rep Oncol. 2024 Aug 30;17(1):960-965. doi: 10.1159/000540581. eCollection 2024 Jan-Dec.
Here, we report the first case of a soft tissue tumor with a fusion.
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 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.
This is the first case of a soft tissue tumor harboring a fusion with histological features in keeping with previous cases of and other kinase fusion soft tissue tumors.
在此，我们报告首例具有一种融合现象的软组织肿瘤病例。
患者为一名11岁女性，小腿出现一个5厘米的肌内肿块。显微镜检查显示为有丝分裂活跃的梭形细胞病变，细胞单一且具有中度非典型性，呈无规律生长模式，伴有间质和血管周围的瘢痕疙瘩样胶原，平滑肌肌动蛋白和S100呈局灶性免疫反应；阴性染色包括细胞角蛋白、CD34和钙调蛋白。全基因组和RNA测序检测到3号染色体倒位以及由此产生的一种融合现象，还有CDKN2A纯合缺失。患者接受了新辅助放化疗，但反应甚微，随后肿瘤被手术切除。4个月时无疾病进展迹象。
这是首例具有一种融合现象的软组织肿瘤病例，其组织学特征与先前的[具体病症名称]病例及其他激酶融合软组织肿瘤病例相符。
