LMNA::NTRK1 Fusion-positive Leiomyosarcoma: Discrepancy between DNA-based Comprehensive Genomic Profiling and RNA Sequencing

Intern Med. 2024 Aug 1;63(15):2215-2219. doi: 10.2169/internalmedicine.2879-23. Epub 2023 Dec 18.

Abstract

A 26-year-old man presented with a tumor in the left soleus muscle. The tumor was diagnosed as a locally advanced leiomyosarcoma. The patient was treated with irradiation followed by wide resection. One year after surgery, the patient presented with multiple lung metastases. Despite aggressive sequential chemotherapy, systemic metastatic tumors continued to develop. To explore therapeutic options for the patient, we performed DNA-based CGP with FoundationOne® CDx (F1). F1 identified an out-of-strand rearrangement of the NOS1AP::NTRK1 gene, which has not been previously reported. In contrast, RNA sequencing revealed an in-frame LMNA::NTRK1 gene, which is an oncogenic fusion gene.

Keywords: NTRK fusion gene; RNA sequencing; leiomyosarcoma.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Humans
  • Lamin Type A* / genetics
  • Leiomyosarcoma* / diagnosis
  • Leiomyosarcoma* / genetics
  • Leiomyosarcoma* / pathology
  • Lung Neoplasms / diagnosis
  • Lung Neoplasms / genetics
  • Lung Neoplasms / pathology
  • Male
  • Muscle Neoplasms / genetics
  • Muscle Neoplasms / pathology
  • Muscle Neoplasms / secondary
  • Oncogene Proteins, Fusion / genetics
  • Receptor, trkA / genetics
  • Sequence Analysis, RNA

Substances

  • LMNA protein, human
  • Lamin Type A
  • Receptor, trkA
  • NTRK1 protein, human
  • Oncogene Proteins, Fusion