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Benefit of treatment with metastectomy in a patient with uterine leiomyosarcoma with NTRK fusion mutation 3: case report
Apresentação do caso
39 years old woman, no comorbidities, presents metrorrhagia in 2012. She underwent hysteroscopy, biopsy and oncological surgery, revealing a grade 3 Leiomyosarcoma of clinical stage IB (T1bN0M0), undergoing radiotherapy. In 2015, she progressed with a single lesion in the lung, and right lobectomy and chemotherapy with Docetaxel and Gemcitabine were performed. Over the next two years, she interspersed periods of progression and inactive disease in the same topography as the lung. Chemotherapy was then restarted, without response, then changed to Doxorubicin with Dacarbazine, with good response. In 2017, she presented progression in lung and pericardium, undergoing metastectomies and treatment with Doxopeg. However, the disease progressed, and Ifosfamide was used until 2018, when the next metastectomy surgery showed no neoplasm. However, she progressed, starting new ineffective treatments. At that time, multiple metastectomies were performed without systemic treatment due to exhaustion of clinical therapy options. In October 2019, a fusion mutation of Neurotropic Tyrosine Receptor Kinase 3 (NTRK3) was detected in the neoplasm, with indication for target therapy with Larotrectinib. However, the medication was denied by the health insurance, so it was judicialized, starting in early 2020. She presented excellent clinical response, however, after 2 months, progressed with digestive bleeding, stopping the therapy. She died in the same year due to pulmonary embolism.
NTRK 1/2/3 is a family of protooncogenes that can be targeted for gene fusion that results in uninterrupted cell signaling, oncogenic transformation and tumor progression. Such mutations cause a wide variety of tumors in different tissues. Thus, the targeted therapy, as with Larotretinib, would be the most effective treatment for such neoplasms, since there is a tendency to exhaustion of cytotoxic options, requiring countless metastectomies as an alternative for better quality of life.
The report reveals 8 years of evolution of a patient with uterine Leiomyoscoma with relapsed NTRK3 fusion, and the clinical benefit of this patient with surgical metastectomies and target therapy is evident. Due to lack of access, it was only possible to discover the mutation in the NTRK fusion 7 years after initiation, starting therapy with Larotrectinib after 8 years. This case shows the importance of early knowledge of somatic tumor mutations, directing a treatment with greater response and less toxicity.
NTRK fusion mutation; Targeted therapy; Metastectomies.
Sarcomas / tumores ósseos*
KARINA LILIAN GOMES MOREIRA, RAMON DE SOUZA MENDES, MARIA FERNANDA DA SILVA RODRIGUES, MARIA CÉLIA HOLANDA DE SOUZA, MARIA THERESA MOURA ARAÚJO, LYGIA MARIA COSTA SOARES