Zhang Meng, Yu Yongbo, Guan Xiaoxing, Yao Xingfeng, Jia Chao, Hong Enyu, Guo Yongli, He Lejian
Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health (NCCH), Beijing, China.
Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health (NCCH), Beijing, China.
Pathol Res Pract. 2022 Feb;230:153754. doi: 10.1016/j.prp.2021.153754. Epub 2021 Dec 30.
Sclerosing epithelioid fibrosarcoma (SEF), typically arising in middle-aged and older adults, is a rare malignant fibroblastic neoplasm characterized by epithelioid fibroblasts embedded in sclerotic hyalinized stroma. This tumor frequently harbors translocation between EWSR1 and CREB3 subfamily members. Here, we describe four cases of SEF with unique genetic characteristics in children. All tumors were located in the deep soft tissue of the trunk and celom. Histopathologically, the tumors were featured by prominent hyalinized sclerotic collagenous stroma within which relatively bland and monomorphic epithelioid cells were arranged in cords, nests, or sheets. Low-grade fibromyxoid sarcoma-like zones varied among cases. MUC4 was strong and diffuse. CD99 was positive. Transmission electron microscopy demonstrated spindle or polyhedral neoplastic cells with a collagen fiber-rich stroma. Interphase fluorescence in situ hybridization (FISH) revealed local amplification of the EWSR1 locus. Whole-genome sequencing indicated translocation between EWSR1 and CREB3L1 together with low-level amplification of the fusion parts. RT-PCR and Sanger sequencing confirmed the fusion transcript. Single nucleotide polymorphism and FISH analyses demonstrated co-deletion of 11p and 22q. The consistent genetic features indicated the presence of a unique molecular variant of SEF. DATA AVAILABILITY STATEMENT: The data used to support the findings of this study are available from the corresponding author upon request.
硬化性上皮样纤维肉瘤（SEF）通常发生于中老年人，是一种罕见的恶性成纤维细胞肿瘤，其特征为上皮样成纤维细胞嵌入硬化的玻璃样变间质中。该肿瘤常伴有EWSR1与CREB3亚家族成员之间的易位。在此，我们描述了4例儿童SEF，具有独特的遗传学特征。所有肿瘤均位于躯干和体腔的深部软组织。组织病理学上，肿瘤的特征为显著的玻璃样变硬化胶原性间质，其中相对温和且形态单一的上皮样细胞呈条索状、巢状或片状排列。不同病例中低级别纤维黏液样肉瘤样区域有所不同。MUC4呈强弥漫性表达。CD99呈阳性。透射电子显微镜显示梭形或多面体形肿瘤细胞及富含胶原纤维的间质。间期荧光原位杂交（FISH）显示EWSR1基因座局部扩增。全基因组测序表明EWSR1与CREB3L1之间存在易位以及融合部分的低水平扩增。逆转录聚合酶链反应（RT-PCR）和桑格测序证实了融合转录本。单核苷酸多态性和FISH分析显示11p和22q共缺失。一致的遗传学特征表明存在一种独特的SEF分子变异型。数据可用性声明：支持本研究结果的数据可向相应作者索取。
