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La oncología de precisión, definida como la perfilación molecular de los tumores para identificar alteraciones modulables, se ha desarrollado rápidamente para integrarse en la práctica clínica. Las pruebas genómicas involucran diversas partes interesadas que trabajan coordinada y articuladamente para controlar la logística de las muestras de tejido tumoral y desarrollar las pruebas en laboratorios con altos parámetros de calidad, donde el análisis apropiado conduce a resultados reproducibles. Los médicos deben estar familiarizados con las variantes genómicas informadas y con la tecnología utilizada para determinarlas, incluidas las limitaciones de los informes y las metodologías actuales. La interpretación de los hallazgos genómicos se realiza de manera óptima gracias al aporte multidisciplinario, necesario para reducir la incertidumbre de las recomendaciones relacionadas con las variantes documentadas. Los genes 1/2/3 del receptor neurotrópico de la quinasa para la tropomiosina (NTRK) codifican las quinasas del receptor de tropomiosina (TRK) A/B/C, respectivamente. Los reordenamientos cromosómicos que causan fusiones del gen NTRK pueden dar como resultado la activación constitutiva de las proteínas TRK, que actúan como impulsores oncogénicos a través de la activación de diversas vías de crecimiento celular. Las fusiones del gen NTRK ocurren en ~0,3 % de los tumores sólidos, aunque su incidencia varía según el tipo de cáncer. Su prevalencia es >90 % en algunas neoplasias raras como el carcinoma secretor de mama y el carcinoma secretor análogo de la glándula salivar (MASC). Los inhibidores de TRK (larotrectinib, entrectinib y repotrectinib) son activos en los tumores positivos para la fusión de NTRK, y han permitido cambiar el curso natural de múltiples enfermedades. El artítuculo desarrolla una revisión integral sobre la perspectiva de la medicina de precisión y su implementación en pacientes pediátricos y adultos con genes de fusión NTRK en Colombia.

Osimertinib is a third generation EGFR-TKI inhibitor approved in the first-line setting for patients with advanced non-small cell lung cancer (NSCLC). Additionally, it represents the treatment of choice in patients who present with T790M mutations and evidence of relapse of the disease. Effectiveness and safety of this drug have been studied in multiple clinical trials and observational studies, however, information regarding outcomes among Hispanic patients treated with Osimertinib is scarce. The objective of this study was to examine real-world effectiveness and safety of first-line Osimertinib in a cohort of Hispanic patients with NSCLC, emphasizing post-progression outcomes.This is a multicenter, multinational, retrospective cohort study of Hispanic patients treated with Osimertinib as first-line for EGFR-mutated NSCLC. Patients with a confirmed diagnosis of metastatic EGFR-mutated NSCLC who received Osimertinib (80mg/day until evidence of disease progression or presence of intolerable adverse effects) were identified and included. NGS was performed in tumor samples or liquid biopsies among patients who had disease progression. The primary outcome was progression-free survival, and the secondary outcome was post-progression survival.A total of 94 patients from Mexico, Argentina, Costa Rica, Colombia, Panama, Chile and the USA were included, with a median age of 59 years. Identified mutations included EGFR Exon 19 deletions and EGFR pL858R point mutations. Median progression-free survival (PFS) was 14.4 months (95%CI 12.4-18.2 months). Lung/pleura and lymph nodes were the most common sites of progression. Median post-progression survival was 7.73 months (95%CI 4.07 months-Not reached). Factors which negatively affected PFS included presence of liver metastases at diagnosis and a tumor mutational burden5 mut/Mb.Treatment with first line osimertinib represents an effective and safe option for Hispanic patients with metastatic NSCLC. Liver metastases and a higher tumor mutation burden were associated with a lower PFS. Despite effectiveness, different mechanisms of resistance were identified among the patients in this cohort, including mutations which can be targeted by other therapeutic options.

Background: COVID-19 produced by SARS-CoV-2 infection has spread worldwide. There is a growing need for immunological assays to detect viral specific antibodies or viral antigen. Current standard of diagnosis is reverse-transcriptase polymerase chain reaction (RT-PCR) in nasopharyngeal swabs. However serological tests can be used to determine previous exposure to the virus and complement the diagnosis. IgM and IgG SARS-CoV-2 specific antibodies can be detected as early as one week after infection and assays can be useful to test large groups of individuals. This work revised the available information concerning assays that detect antibodies and antigens for SARS-CoV-2. Methods: Three sources of information were used: technical data sheets (TDS) web pages of the company’s products and published articles in Pubmed with reference to the use of diagnostic kits. All the information was revised until April 5th 2020. Results: There were 226 tests coming from 20 countries mainly from China. TDS were found only in 50 (22.1%). Most assays detect specific antibodies (n 180) based on immunochromatography methods (n 110) and use blood-derived samples (n 105). Assays for antibodies detection measured mainly IgM/IgG (n 112) and the most common procedure time was in vitro diagnosis (IVD). A total 165 articles were found on PubMed 15 were included and only 4 used the commercial kits reviewed. Conclusions: Due to the urgency of producing diagnostic tests for SARS-CoV-2 there is a broad offer of kits. Many tests need additional information for their application. The data collected may be useful in the selection of assays but more and higher quality information is needed.

Background: Mutations in STK11 (STK11(Mut)) and, frequently co-occurring, KEAP1 mutations (KEAP1(Mut)) are associated with poor survival in metastatic Non-small Cell Lung Cancer (mNSCLC) patients treated with immunotherapy. However, there are limited data regarding the prognostic or predictive significance of these genomic alterations among Hispanics. Methods: This retrospective study analyzed a cohort of Hispanic patients (N = 103) diagnosed with mNSCLC from the US and seven Latin American countries (LATAM) treated with immune checkpoint inhibitors (ICI) alone or in combination as first-line (Cohort A). All cases were treated in routine care between January 2016 and December 2021. The main objectives were to determine the association of mutations in STK11 or KEAP1 in these patients' tumors with overall (OS) and progression-free survival (PFS), presence of KRAS mutations, tumor mutational burden (TMB), and other relevant clinical variables. To compare outcomes with a STK11(Wt)/KEAP1(Wt) population, historical data from a cohort of Hispanic patients (N = 101) treated with first-line ICI was used, matching both groups by country of origin, gender, and Programed Death-ligand 1 (PD-L1) expression level (Cohort B). Results: Most tumors had mutations only in STK11 or KEAP1 (45.6%) without KRAS co-mutation or any other genomic alteration. Besides, 35%, 8.7%, 6.8%, and 3.9% were KRAS(Mut) + STK11(Mut), KRAS(Mut) + STK11(Mut) + KEAP1(Mut), STK11(Mut) + KEAP1(Mut), and KRAS(Mut) + KEAP1(Mut), respectively. Based on KRAS status, STK11 alterations were associated with significantly lower PD-L1 expression among those with KRAS(Wt) (p = 0.023), whereas KEAP1 mutations were predominantly associated with lower PD-L1 expression among KRAS(Mut) cases (p = 0.047). Tumors with KRAS(Mut) + KEAP1(Mut) had significantly higher median TMB when compared to other tumors (p = 0.040). For Cohort A, median PFS was 4.9 months (95%CI 4.3-5.4), slightly longer in those with KEAP1(mut) 6.1 months versus STK11(Mut) 4.7 months (p = 0.38). In the same cohort, PD-L1 expression and TMB did not influence PFS. OS was significantly longer among patients with tumors with PD-L1 >= 50% (30.9 months), and different from those with PD-L1 1-49% (22.0 months), and PD-L1 < 1% (12.0 months) (p = 0.0001). When we compared the cohorts A and B, OS was significantly shorter for patients carrying STK1 [STK11(Mut) 14.2 months versus STK11(Wt) 27.0 months (p = 0.0001)] or KEAP1 [KEAP1(Mut) 12.0 months versus KEAP1(Wt) 24.4 months (p = 0.005)] mutations. PD-L1 expression significantly affected OS independently of the presence of mutations in STK11, KEAP1, or KRAS. TMB-H favored better OS. Conclusions: This is the first large Hispanic cohort to study the impact of STK11 and KEAP1 mutations in NSCLC patient treated with ICI. Our data suggest that mutations in the above-mentioned genes are associated with PD-L1 expression levels and poor OS.

The rapid spread of SARS-CoV-2 coronavirus infection has led to the development of molecular and serologic tests in a short period of time. While tests such as RT-PCR have applications in the immediate diagnosis revealing the presence of the virus, serological tests can be used to determine previous exposure to the virus and complement acute diagnosis. Antibody production can occur as early as 5 days post-infection. Both IgM and IgG specific anti-SARS-COV-2 antibodies can be a useful tool to test faster and larger groups of individuals. The objective of this study was to carry out a review of the different serological tests offered to detect antigen or antibodies against SARS-CoV-2. This information should be useful for decision takers in different countries to choose a test according to their needs. Based on web pages that listed serological assays, we found 226 coming from 20 countries, the majority are indirect tests for specific antibodies detection (n 180) and use immunochromatography methods (n 110) with samples coming from blood-derived products (n 105). Measuring IgM/IgG at the same time (n 112) and a procedure time of