NTRK结构重排的纺锤形细胞肿瘤（NTRK-RSCN）是一类使用分子手段定义的罕见肿瘤中的新兴群体。据我们所知，在英文全文文章中，目前尚无关于该肿瘤在中国人群中的大规模报道。在此，我们提供了13例具有独特特征的NTRK-RSCN病例。其中十三例病人中有十个（77%）为儿童，没有性别上的差异。肿瘤的位置包括6个干部，4个肢端，2个直肠和1个小肠。组织学形态包括4个类脂纤维瘤样神经瘤（LPF-NT）状，8个恶性周围神经鞘肿瘤（MPNST）/纤维肉瘤样和1个极为罕见的黏液纤维肉瘤状。免疫组织化学检测显示，所有病例均CD34、泛TRK和TRK-A阳性，SOX-10阴性，H3K27me3正常。11例中有11例（85%）鉴定出S-100蛋白表达。基因方面，通过荧光原位杂交考虑NTRK1重排呈阳性（7/13，54%），或者可疑阳性（6/13，46%）。下一代测序和Sanger测序确定了与多种伴随基因发生NTRK1融合的情况，包括五个LMNA，三个TPM3，一个SQSTM1，三个新的CPSF6，IGR（下游PMVK）和GAS2L1基因。有趣的是，最后一个肿瘤同时还携带了第二个未被报道的EWSR1-PBX1融合。四名病人出现局部复发，其中两名病人出现转移。在我们的研究中，NTRK-RSCN具有独特的融合，展现出不寻常或复杂的临床病理特征。组织学线索和免疫组织化学有助于筛选出一小部分潜在候选人。虽然FISH是鉴定NTRK重排的强有力技术，但对于高度可疑，FISH信号模式不明显的经典阳性的情况，特别是如果考虑到靶向治疗，则建议使用基于RNA-/DNA的NGS。版权所有©2022 Australasia皇家病理学院。由Elsevier B.V.出版，保留所有权利。

NTRK-rearranged spindle cell neoplasms (NTRK-RSCNs) represent an emerging group of rare tumours defined using molecular means. To the best of our knowledge, there have been no large series of reports about this tumour in the Chinese population in English full-text articles. Herein, we present 13 NTRK-RSCNs with peculiar characteristics. Ten of the 13 (77%) patients were children without sex differences. The tumour locations included six trunks, four extremities, two recta, and one small bowel. The histological morphology included four lipofibromatosis-like neural tumour (LPF-NT)-like, eight malignant peripheral nerve sheath tumours (MPNST)/fibrosarcoma-like, and one extremely rare myxofibrosarcoma-like pattern. Immunohistochemically, all cases were CD34, pan-TRK and TRK-A positive, SOX-10 negative, and H3K27me3 intact. S-100 protein expression was identified in 11 of 13 (85%) cases. Genetically, NTRK1 rearrangements were considered positive (7/13, 54%) or suspicious for positivity (6/13, 46%) by fluorescence in situ hybridisation. Next-generation sequencing and Sanger sequencing confirmed NTRK1 fusions with a variety of partner genes, including five LMNA, three TPM3, one SQSTM1, three novel CPSF6, IGR (downstream PMVK), and GAS2L1 genes. Interestingly, the last tumour concurrently harboured a second EWSR1-PBX1 fusion, which has never been reported. Four patients developed local recurrence and two of them suffered metastasis. In our study, NTRK-RSCNs had peculiar fusions that displayed unusual or complicated clinicopathological features. Histological clues and IHC helped streamline a small subset of potential candidates. Although FISH is a powerful technology for identifying NTRK rearrangements, RNA-/DNA-based NGS is recommended for highly suspected cases in which FISH signal patterns are not discernible as classic positive patterns, particularly if targeted therapy is considered.Copyright © 2022 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.