Work

LMNA-NTRK1-rearranged spindle cell neoplasm with multiple relapses: a case report and literature review

Year: 2025

Type: article

Abstract: 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 woman, characterized by previously undescribed pigmentation, multiple local recurrences, and fibrosarcoma-like malignant transformation-features that have not been 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.

Source: Frontiers in Medicine

DOI: 10.3389/fmed.2025.1691619

Authors: Yinan Zhu, Ziyue Wang, Haiyan Xi, Wanchen Lu, Mingfang Sun, Xuyong Lin

Institutions: First Hospital of China Medical University, China Medical University

Language: English

Topic: Sarcoma Diagnosis and Treatment

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801