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NTRK-rearranged spindle cell neoplasm of the lower extremity: radiologic-pathologic correlation
Cameron J Overfield1, Mark A Edgar2, Daniel E Wessell1
1Department of Radiology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.
Abstract:
Neurotrophic tyrosine receptor kinase (NTRK)-rearranged spindle cell neoplasm is a recently characterized soft tissue tumor and has been classified as provisional by the World Health Organization. Detection of the genetic rearrangement is important because these tumors are amenable to targeted tyrosine kinase inhibitor therapy, which can play a key role in patients with unresectable or advanced disease. Although the spectrum of histopathology associated with this entity is broad, one notable feature is the infiltrative growth pattern, which is most reminiscent of lipofibromatosis-like neural tumor. Description of their diverse histologic attributes has aided recognition, but so far little attention has been paid to correlating the gross appearance and imaging features of these lesions. In this report, we describe the clinical, imaging, histopathological, and genetic features of a soft tissue NTRK-rearranged spindle cell neoplasm. Inclusion of this more recently identified entity into the imaging differential of tumors with intratumoral relatively hypovascular nodules and infiltrative margins is important because testing for NTRK rearrangement is not routinely performed.
Insights
Neurotrophic tyrosine receptor kinase (NTRK)-rearranged spindle cell neoplasms are rare soft tissue tumors. Recognizing their imaging features is crucial for timely diagnosis and targeted therapy in advanced cases.
Area of Science:
- Oncology
- Pathology
- Radiology
Background:
- Neurotrophic tyrosine receptor kinase (NTRK)-rearranged spindle cell neoplasm is a provisional soft tissue tumor.
- Early detection is vital as these tumors respond to targeted tyrosine kinase inhibitor therapy, especially in advanced or unresectable disease.
Purpose of the Study:
- To describe the clinical, imaging, histopathological, and genetic features of NTRK-rearranged spindle cell neoplasms.
- To highlight the importance of including this entity in the differential diagnosis for soft tissue tumors with specific imaging characteristics.
Main Methods:
- Case report detailing clinical presentation.
- Comprehensive analysis of imaging findings (radiology).
- Histopathological examination and genetic testing for NTRK rearrangement.
Main Results:
- The study describes a soft tissue NTRK-rearranged spindle cell neoplasm.
- Notable features include an infiltrative growth pattern and intratumoral hypovascular nodules.
- The gross appearance and imaging characteristics are correlated with histopathology and genetics.
Conclusions:
- Accurate diagnosis of NTRK-rearranged spindle cell neoplasms is essential for effective treatment.
- Radiologists and pathologists should consider this entity in their differential diagnoses.
- Routine NTRK rearrangement testing is important for identifying patients eligible for targeted therapies.
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