Ouyang Qi, Guo Xiaohong, Mao Rongjun, Cao Zhixing
Department of Pathology, Zhuhai People's Hospital (Zhuhai Clinical Medical College of Jinan University), Zhuhai, Guangdong, China.
Department of Pathology, Foshan Hospital of Traditional Chinese Medicine, Foshan, Guangdong, China.
Front Oncol. 2025 May 29;15:1516491. doi: 10.3389/fonc.2025.1516491. eCollection 2025.
rearrangements are rarely documented in superficial soft tissue neoplasms exhibiting an infantile fibrosarcoma-like spindle cell tumor (IFS) pattern or stromal, resembling Neurotrophic Tyrosine Kinase Receptor()rearranged spindle cell tumors. Here, we present two cases of pediatric cutaneous soft tissue tumors with an IFS pattern, in which fusions involving related partner genes were identified. The tumors in both cases demonstrated similar morphology and consisted of ovoid and spindle cells with infiltrative boundaries. The spindle cells exhibited either a fascicular growth pattern or a haphazard pattern and stromal hyalinization. Both cases involved inflammatory cell infiltration, brisk mitosis, and CD34, S100, and ALK-D5F3 immunoreactivity. Next-generation sequencing identified fusion with different partner genes ( and ). The fluorescence hybridization break-apart assay confirmed ALK rearrangements in both cases. In case 1, no indications of disease progression or metastasis was observed within the limited follow-up (36 months). However, the patient in case 2 experienced a rapid recurrence and metastasis.
在表现为婴儿纤维肉瘤样梭形细胞瘤(IFS)模式或类似于神经营养性酪氨酸激酶受体()重排梭形细胞瘤的基质的浅表软组织肿瘤中,重排情况鲜有记录。在此,我们报告两例具有IFS模式的儿童皮肤软组织肿瘤病例,其中鉴定出涉及相关伙伴基因的融合。两例肿瘤均表现出相似的形态,由具有浸润性边界的卵圆形和梭形细胞组成。梭形细胞呈现束状生长模式或杂乱模式以及基质玻璃样变。两例均有炎性细胞浸润、活跃的有丝分裂以及CD34、S100和ALK-D5F3免疫反应性。二代测序鉴定出与不同伙伴基因( 和 )的融合。荧光原位杂交断裂分析证实两例均存在ALK重排。在病例1中,在有限的随访期(36个月)内未观察到疾病进展或转移的迹象。然而,病例2的患者迅速复发并发生转移。