AI Article Synopsis
- A 26-year-old man was diagnosed with a locally advanced leiomyosarcoma in his left soleus muscle and underwent treatment involving radiation and surgical resection.
- One year post-surgery, he experienced multiple lung metastases, leading to ongoing aggressive chemotherapy that failed to halt tumor progression.
- Genetic testing revealed a new out-of-strand rearrangement of the NOS1AP::NTRK1 gene and an oncogenic LMNA::NTRK1 fusion, suggesting potential therapeutic targets for his ongoing disease.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11358736 | PMC |
| http://dx.doi.org/10.2169/internalmedicine.2879-23 | DOI Listing |
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