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.
Similar content being viewed by others
References
WHO Classification of Tumours Editorial Board.WHO classification of tumours soft tissue and bone tumours, 5th edition. Lyon: IARC Press; 2020.
Antonescu CR. Emerging soft tissue tumors with kinase fusions: an overview of the recent literature with an emphasis on diagnostic criteria. Genes Chromosom Cancer. 2020;59(8):437–44.
Suurmeijer AJH, Dickson BC, Swanson D, Zhang L, Sung YS, Cotzia P, et al. A novel group of spindle cell tumors defined by S100 and CD34 co-expression shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes. Genes Chromosom Cancer. 2018;57(12):611–21.
Dermawan JK, Ko JS, Billings SD. Update on cutaneous soft tissue tumors. Surg Pathol Clin. 2021;14(2):195–207. https://doi.org/10.1016/j.path.2021.03.002.
Punjabi LS, Sittampalam K. Expanding the spectrum of adult NTRK3-rearranged spindle cell neoplasms. Am J Clin Pathol. 2021 Oct 18:aqab167. doi: https://doi.org/10.1093/ajcp/aqab167.
Xu J, Weisman P. Dedifferentiated secretory breast carcinoma with fibrosarcomatous features harboring an ETV6-NTRK3 fusion in both components. Genes Chromosomes Cancer. 2021;60(6):447–51. https://doi.org/10.1002/gcc.22929.
Suurmeijer AJ, Dickson BC, Swanson D, Zhang L, Sung YS, Huang HY, Fletcher CD, Antonescu CR. The histologic spectrum of soft tissue spindle cell tumors with NTRK3 gene rearrangements. Genes Chromosomes Cancer. 2019 Nov;58(11):739–746. doi: https://doi.org/10.1002/gcc.22767.
Yamazaki F, Nakatani F, Asano N, Wakai S, Sekimizu N, Mitani S, Kubo T, Kawai A, Ichikawa H, Yoshida A. Novel NTRK3 fusions in fibrosarcomas of adults. Am J Surg Pathol. 2019;43:523–30.
Demetri GD, Antonescu CR, Bjerkehagen B, et al. Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network. Ann Oncol. 2020 Nov;31(11):1506–1517. doi: https://doi.org/10.1016/j.annonc.2020.08.2232.
Wang H, Nie P, Dong C, Li J, Huang Y, Hao D, Xu W. CT and MRI findings of soft tissue adult fibrosarcoma in extremities. Biomed Res Int. 2018;6(2018):6075705. https://doi.org/10.1155/2018/6075705.
Sargar KM, Sheybani EF, Shenoy A, Aranake-Chrisinger J, Khanna G. Pediatric fibroblastic and myofibroblastic tumors: a pictorial review. Radiographics. 2016 Jul-Aug;36(4):1195–214. https://doi.org/10.1148/rg.2016150191.
Vaishnavi A, Le AT, Doebele RC. TRKing down an old oncogene in a new era of targeted therapy. Cancer Discov. 2015;5:25–34.
Hechtman JF, Benayed R, Hyman DM, Drilon A, Zehir A, Frosina D, Arcila ME, Dogan S, Klimstra DS, Ladanyi M, Jungbluth AA. Pan-Trk immunohistochemistry is an efficient and reliable screen for the detection of NTRK fusions. Am J Surg Pathol. 2017;41:1547–51.
Davis JL, Lockwood CM, Stohr B, Boecking C, Al-Ibraheemi A, Dubois SG, et al. Expanding the spectrum of pediatric NTRK-rearranged mesenchymal tumors. Am J Surg Pathol. 2019;43(4):435–45.
Morag Y, Lucas DR. Ultrasound of myxofibrosarcoma. Skeletal Radiol. 2021 Jul 22. doi: https://doi.org/10.1007/s00256-021-03869-7.
Lefkowitz RA, Landa J, Hwang S, Zabor EC, Moskowitz CS, Agaram NP, Panicek DM. Myxofibrosarcoma: prevalence and diagnostic value of the “tail sign” on magnetic resonance imaging. Skeletal Radiol. 2013 Jun;42(6):809–18. https://doi.org/10.1007/s00256-012-1563-6.
Yoo HJ, Hong SH, Kang Y, Choi JY, Moon KC, Kim HS, Han I, Yi M, Kang HS. MR imaging of myxofibrosarcoma and undifferentiated sarcoma with emphasis on tail sign; diagnostic and prognostic value. Eur Radiol. 2014;24(8):1749–57. https://doi.org/10.1007/s00330-014-3181-2.
Wu SY, Zhao J, Chen HY, Hu MM, Zheng YY, Min JK, Yu RS. MR imaging features and a redefinition of the classification system for nodular fasciitis. Medicine (Baltimore). 2020;99(45): e22906. https://doi.org/10.1097/MD.0000000000022906.
Chen S, Huang W, Luo P, Cai W, Yang L, Sun Z, Zheng B, Yan W, Wang C. Undifferentiated pleomorphic sarcoma: long-term follow-up from a large institution. Cancer Manag Res. 2019;27(11):10001–9. https://doi.org/10.2147/CMAR.S226896.
Papathanassiou ZG, Alberghini M, Picci P, Staals E, Gambarotti M, Garaci FG, Vanel D. Solitary fibrous tumors of the soft tissues: imaging features with histopathologic correlations. Clin Sarcoma Res. 2013;3(1):1. https://doi.org/10.1186/2045-3329-3-1.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Ethical approval
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. HIPAA requirements were followed. Informed consent was obtained from the subject described in this report.
Conflict of interest
The authors declare no competing interests.
Additional information
Publisher's note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Overfield, C.J., Edgar, M.A., Wessell, D.E. et al. NTRK-rearranged spindle cell neoplasm of the lower extremity: radiologic-pathologic correlation. Skeletal Radiol 51, 1707–1713 (2022). https://doi.org/10.1007/s00256-022-03995-w
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00256-022-03995-w