Gastrointestinal Stromal Tumors (GIST) are the most frequent mesenchymal neoplasia of the digestive tract. Genomic alterations in KIT, PDFGRA, SDH, and BRAF genes are essential in GIST oncogenesis. Therefore, the mutations in these genes have demonstrated clinical implications. Tumors with deletions in KIT-exon 11 or duplications in exon 9 are associated with a worse prognosis. In contrast, KIT-exon 11 substitutions and duplications are associated with a better clinical outcome. Moreover, mutations in Kit exon 9 and 11 are actionable, due to their response to imatinib, while mutations in PDGFRA respond to sunitinib and/or avapritinib. Although, molecular testing on tissue samples is effective; it is invasive, requires adequate amounts of tissue, and a long experimental process is needed for results. In contrast, liquid biopsy has been proposed as a simple and non-invasive method to test biomarkers in cancer. The most common molecule analyzed by liquid biopsy is circulating tumor DNA (ctDNA). GISTs ctDNA testing has been demonstrated to be effective in identifying known and novel KIT mutations that were not detected using traditional tissue DNA testing and have been useful in determining progression risk and response to TKI therapy. This allows the clinician to have an accurate picture of the genetic changes of the tumor over time. In this work, we aimed to discuss the implications of mutational testing in clinical outcomes, the methods to test ctDNA and the future challenges in the establishment of alternatives of personalized medicine.

Background: The diagnosis of colorectal cancer (CRC) at early ages has become a challenging trend for oncology due to high rates of mortality worldwide. The correlation of clinical features with young-age prognosis in CRC remains unclear. Therefore, we aimed to describe the clinicopathological features and their impact on the overall survival of young Mexican adults diagnosed with CRC treated in the National Cancer Institute. Methods: This was a retrospective, observational study. The included patients were treated at the National Cancer Institute between 2004 and 2020. The statistical analyses comprised the X² and t tests, Kaplan–Meier, log rank, and Cox regression. Statistical significances were assessed when p was bilaterally < 0.05. Results: A total of 3652 patients diagnosed with CRC attended the National Cancer Institute. Cases of early onset of CRC increased over the 16 years under study, with significant differences between the median age, from 57 in 2004 to 55 years old in 2020 (F = 5.49; gl: 12 p = 0.019). For this analysis, the population was divided in three groups: young (≤30 years), adults (31–70), and elderly (>70). The young population was mostly composed of men (62%; (n = 63), (p = 0.020), with high rates of metastatic disease (44%) (p = 0.001) and right-side tumors (57%), (p = 0.046), and with 44% with a moderate grade (p = 0.750). According to the overall survival (OS) analysis, the median OS was 29 months for young, versus 170 months for adult and 56 months for elderly patients (p <0.001, HR 1.53, 95% CI 1.11–2.10). A sub-analysis was performed considering only patients with metastatic disease. The median OS was 12 months for young, versus 17 and 9 months for adults and elderly (p = 0.08, HR 1.27, 95% CI 1.02–1.46). Conclusions: CRC diagnosis in the young population is increasing due unhealthy lifestyle habits and lack of screening. This population have clinical features of bad prognosis, such as left side, poor grade differentiation, and metastatic disease, precluding prognosis and OS.

Background/Objectives: The prognosis of colorectal cancer (CRC) is mainly based on the clinical stage; however, CRC is considered a complex disease due to its molecular heterogeneity. The development of novel biomarkers to improve patients’ diagnosis and prognosis remains fundamental. Methods: A cohort of forty-nine CRC patients from the National Cancer Institute of Mexico was included to collect clinical and miRNA expression data. The expression of a group of miRNAs was compared between CRC and non-tumoral adjacent tissues. Prognosis assessment considering each miRNA expression was tested using Kaplan–Meier survival curves and Cox regressions. Statistical significance was defined as p ≤ 0.05. Trial registration: Retrospective study No.2021/046. Results: miR-3065-5p and miR-26a-5p expression differed between non-tumoral adjacent and tumoral tissues (p = 0.02). In terms of overall survival (OS), patients with low expression of miR-3065-5p had a median OS of 70 months, while patients with high levels did not reach the median OS (p = 0.041). Male patients with low expression of this miRNA had an OS of 70 months, whereas patients with high levels did not reach the median OS (p = 0.050). Under uni-multivariate analysis, clinical stage (HR: 1.30, CI 1.23–2.30; p: 0.001) and low levels of miR-3065-5p (HR: 1.30, CI 1.23–2.30; p: 0.001) were determined as predictor factors of OS. To this end, we designed the “Prognosis miRNAs assessment in cancer” (PROMIR-C) algorithm, which integrated clinical features with miR-3065-5p expression levels. Conclusions: These findings support the clinical utility of miR-26a-5p and miR-3065-5p in the diagnosis and prognosis of CRC. PROMIR-C is a fundamental tool for clinicians in treatment decision-making, prognosis assessment, and outcome of CRC.

Colorectal cancer is a type of disease that arises from alterations in the genome, making it challenging to diagnose at an early stage. The difficulty in early detection can com­plicate treatment and lower survival rates. These genomic alterations result in mutations in critical genes, including adenomatous polyposis coli (APC). Some of these mutations, including APC 1306, have been identified as potential biomarkers for early cancer diagnosis. Genosensors offer a promising alternative to these detection methods; however, it is essential to optimize their characteristics, including sensitivity, stability, and reaction conditions, prior to use. In this study, an electrochemical genosensor was deve­loped to detect a specific mutation using voltammetric techniques. The limit of detec­tion was 8.56 pM for cyclic voltammetry and 29.76 pM for differential pulse voltam­metry. The optimal incubation and hybridi­zation temperature were determined to be 55 °C. The geno­sensor remained stable for 14 days, after which its performance gradually declined. The tested electrochemical detection methods demonstrate excellent performance for this type of genosensor, particularly in the presence of doxorubicin. This approach can also be utilized to identify various genetic alterations associated with other chronic degenerative diseases.