CASE REPORT article
Front. Med.
Sec. Pathology
LMNA-NTRK1 Rearranged Spindle Cell Neoplasm with multiple relapses: A Case Report and Literature Review
Provisionally accepted
- The First Hospital of China Medical University, Shenyang, China
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Neurotrophic tyrosine receptor kinase (NTRK)-rearranged spindle cell neoplasms (NTRK-RSCNs) constitute a rare, heterogeneous subset of soft tissue tumors defined by oncogenic fusions involving NTRK1, NTRK2, or NTRK3 genes. Despite the remarkable efficacy of TRK inhibitor therapy in fusion-positive tumors, the histomorphologic variability of NTRK-RSCNs poses significant diagnostic challenges, and data on malignant transformation remain limited. Herein, we report a unique case of LMNA::NTRK1-rearranged spindle cell neoplasm in a 23-year-old female, characterized by previously undescribed pigmentation, multiple local recurrences, and fibrosarcoma-like malignant transformation—features not documented in prior literature. Through integrated histopathological, immunohistochemical, and molecular analyses, we characterize the diagnostic nuances, biological behavior, and potential drivers of progression in this entity. Our findings expand the morphological and clinical spectrum of LMNA::NTRK1-rearranged tumors and highlight the need for close follow-up and consideration of adjuvant targeted therapy in high-risk cases.
Keywords: NTRK fusion, Spindle cell neoplasm, LMNA::NTRK1, malignant transformation, Recurrence, Pigmentation
Received: 25 Aug 2025; Accepted: 14 Nov 2025.
Copyright: © 2025 Zhu, Wang, Xi, Lu, Sun and Lin. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Mingfang Sun, sunmingfang00425@163.com
Xuyong Lin, cmupatho@163.com
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