Adenocarcinoma (ADC) of the lung is the most frequent pathology corresponding to non-small cell lung cancer (NSCLC). The advent of target therapy and the discovery of drugs that block signaling pathways related to cellular events involved in the progression of the disease have led to a better prognosis in cases of ADC. Some of the targeted therapy focuses on the blockade of epidermal growth factor receptor (EGFR), targeting mutations in exon 19 and 21, with favorable clinical outcomes. However, there is limited evidence with respect to unusual mutations as in exon 18 (g719x) and 20 (s768). In this report, we present a case of a 65-year-old female with two unusual mutations in the EGFR gene, in exon 18 (g719x) and 20 (s768i), without central nervous system (CNS) involvement; these mutations are typically resistant to standard therapy. We decided to administer osimertinib because of its favorable toxicity profile and with a view to preventing future CNS relapse.
Glioblastoma multiforme (GBM) is the most frequent neoplasm of the central nervous system (CNS) with a low incidence in people. The heterogeneous characteristics of this malignant tumor make the overall survival one of the shortest. Metastatic lesions due to glioblastoma are mainly reported in liver, lungs and leptomeningeal spaces, existing in worldwide literature with very few reported cases. The osseous tissue continues to be an exceptional place to present metastases. This is the reason why we report one case of a young adult with extensive lytic compromise confirmed by histopathological features.
Metastatic renal cell carcinoma (mRCC) involving the central nervous system is currently an excluded subgroup of patients in the systemic treatment; for this reason, there is no solid data to support the efficacy of therapies in this subgroup. That is why it is important to describe real-life experiences in order to know if there is a special change in clinical behavior or treatment response in these kinds of patients. Patients and methodsA retrospective review was performed to characterize mRCC patients diagnosed with brain metastases (BrM) during treatment at the National Institute of Cancerology of Bogota, Colombia. Descriptive statistics and time-to-event methods are used to evaluate the cohort. For the descriptive measures of quantitative variables, the mean with standard deviation was taken, and the minimum and maximum values were reported. In the case of qualitative variables, absolute and relative frequencies were used. The software used was R -Project v4.1.2 (R Foundation for Statistical Computing, Vienna, Austria). ResultsA total of 16 patients were included with mRCC between January 2017 to August 2022 with a median 35.1month follow-up, 4/16 (25%) were diagnosed with BrM at the time of screening and 12/16 (75%) during treatment. The International Metastatic RCC Database Consortium risk (IMDC) was favorable for 12.5%, intermediate for 43.7%, and poor for 25%, and not classified for 18.8%, BrM involvement was multifocal in 50% of the population and localized, brain-directed therapy was done in 43.7% of patients, predominantly palliative radiotherapy. Median overall survival (OS) for all the patients regardless of the time of metastatic presentation of the disease in the central nervous system was 53.5 months (0-70.3), and OS for cases with central nervous system involvement was 10.9 months. IMDC risk did not correlate with survival (log-rank, p=0.67). The OS for the subgroup of patients who debut with metastatic disease in the central nervous system is different from the group that developed metastasis in the progression of their disease (OS of 42 vs 3.6 months, respectively). ConclusionsThis is the largest descriptive study in Latin America and the second in the world from one institution that admits patients with metastasic renal cell carcinoma and central nervous system metastasis. In these kinds of patients with metastatic disease or progression to the central nervous system, there is a hypothesis that shows more aggressive clinical behavior. There is limited data on locoregional intervention to metastatic disease in the nervous system drastically, but trends show this could impact overall survival outcomes.
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