Background: MUTYH has been implicated in hereditary colonic polyposis and colorectal carcinoma. However, there are conflicting data refgarding its relationship to hereditary breast cancer. Therefore, we aimed to assess if MUTYH mutations contribute to breast cancer susceptibility. Methods: We retrospectively reviewed 3598 patients evaluated from June 2018 to June 2023 at the Hereditary Cancer Unit of La Paz University Hospital, focusing on those with detected MUTYH variants. Results: Variants of MUTYH were detected in 56 patients (1.6%, 95%CI: 1.2–2.0). Of the 766 patients with breast cancer, 14 patients were carriers of MUTYH mutations (1.8%, 95%CI: 0.5–3.0). The prevalence of MUTYH mutation was significantly higher in the subpopulation with colonic polyposis (11.3% vs. 1.1%, p < 0.00001, OR = 11.2, 95%CI: 6.2–22.3). However, there was no significant difference in the prevalence within the subpopulation with breast cancer (1.8% vs. 1.5%, p = 0.49, OR = 1.2, 95%CI: 0.7–2.3). Conclusion: In our population, we could not establish a relationship between MUTYH and breast cancer. These findings highlight the necessity for a careful interpretation when assessing the role of MUTYH mutations in breast cancer risk.
Background: The rising incidence of colorectal cancer (CRC) among young patients is alarming. We aim to characterize the clinico-pathological features and outcomes of patients with early-onset CRC (EOCRC), as well as the impacts of COVID-19 pandemic. Methods: We included all patients with pathologically confirmed diagnoses of CRC at Hospital Universitario La Paz from October 2016 to December 2021. The EOCRC cut-off age was 50 years old. Results: A total of 1475 patients diagnosed with CRC were included, eighty (5.4%) of whom had EOCRC. Significant differences were found between EOCRC and later-onset patients regarding T, N stage and metastatic presentation at diagnosis; perineural invasion; tumor budding; high-grade tumors; and signet ring cell histology, with all issues having higher prevalence in the early-onset group. More EOCRC patients had the RAS/ BRAF wild type. Chemotherapy was administered more frequently to patients with EOCRC. In the metastatic setting, the EOCRC group presented a significantly longer median OS. Regarding the COVID-19 pandemic, more patients with COVID-19 were diagnosed with metastatic disease (61%) in the year after the lockdown (14 March 2020) than in the pre-pandemic EOCRC group (29%). Conclusions: EOCRC is diagnosed at a more advanced stage and with worse survival features in localized patients. More patients with EOCRC were diagnosed with metastatic disease in the year after the COVID-19 pandemic lockdown. The long-term consequences of COVID-19 are yet to be determined.
Background: The prognosis of patients with stage II and stage III colon cancer is heterogeneous. Clinical and pathological characteristics, such as tumor budding, may help to further refine the recurrence risk. Methods: We included all the patients with localized colon cancer at Hospital Universitario La Paz from October 2016 to October 2021. We built a prognostic score for recurrence in the training cohort based on multivariate cox regression analysis and categorized the patients into two risk groups. Results: A total of 440 patients were included in the training cohort. After a median follow-up of 45 months, 81 (18%) patients had a first tumor recurrence. T4, N2, and high tumor budding remained with a p value <0.05 at the last step of the multivariate cox regression model for time to recurrence (TTR). We assigned 2 points to T4 and 1 point to N2 and high tumor budding. Forty-five percent of the patients were assigned to the low-risk group (score = 0). Compared to the high-risk group (score 1–4), patients in the low-risk group had a significantly longer TTR (hazard ratio for disease recurrence of 0.14 (95%CI: 0.00 to 0.90; p < 0.045)). The results were confirmed in the validation cohort. Conclusions: In our study, we built a simple score to predict tumor recurrence based on T4, N2, and high tumor budding. Patients in the low-risk group, that comprised 44% of the cohort, had an excellent prognosis.
Background: Patients with lung cancer experience higher rates of hospitalization due to their elevated mortality and associated comorbidities. Hospital admissions among oncology patients often indicate organ vulnerability and are linked to poor prognosis. This study aimed to assess the characteristics and potential prognostic factors of hospitalized lung cancer patients. Methods: We retrospectively analyzed 646 patients admitted from June 2021 to May 2022 to the Medical Oncology Service at La Paz University Hospital (Madrid, Spain). Results: During this period, 158 patients admitted had lung cancer (24.5%). The median overall survival since admission (mOSSA) was 3.3 months (95%CI: 1.86–7.74). In the univariate analysis, poorer mOSSA was associated with admission for tumor-related causes (1.33 vs. 7.30 months, p < 0.001), ECOG ≥ 2 (2.43 vs. 8.50 months, p < 0.001), NLR ≥ 6 (1.87 vs. 7.40 months), PNI ≤ 40 (1.67 vs. 4.97 months), and LDH ≥ 210 (2.27 vs. 7.87 months, p = 0.044). In the multivariate analysis, independent prognostic factors included admission for tumor-related causes (p = 0.032, aHR 1.81, 95%CI: 1.05–3.11) and ECOG ≥ 2 (p = 0.041, aHR 1.80, 95%CI: 1.03–3.16). Conclusions: Hospital admission for lung cancer is a poor prognostic event, particularly when associated with tumor-related causes or a decline in performance status.
Introducción: La formación de la población general en maniobras de reanimación cardiopulmonar (RCP) contribuye a disminuir su morbimortalidad. Este estudio evalúa el impacto de talleres de primeros auxilios en la formación de la población universitaria, así como el perfil demográfico y epidemiológico de sus participantes. Métodos: Estudio descriptivo en el que se estudian los resultados de un cuestionario administrado a 103 participantes tras los talleres de RCP. Resultados: Los participantes evaluaron el curso con 4,7/5 y sus conocimientos sobre RCP con 3,6/5. El 94,2% de los participantes creen que esta formación es necesaria. No se obtuvieron diferencias estadísticamente significativas entre el subgrupo con conocimientos previos de RCP y el subgrupo sin dichos conocimientos. Conclusión: El curso logró que sus participantes tuvieran un conocimiento teórico de la maniobra de RCP independientemente de su formación previa. Los datos epidemiológicos de riesgo cardiovascular obtenidos fueron similares a los de estudios previos. Introduction: The training of the general population in cardiopulmonary resuscitation (CPR) manoeuvres during cardiorespiratory arrest helps to reduce its morbidity and mortality. This study evaluates the impact of first aid workshops on the training of university population, as well as the demographic and epidemiological profile of its participants. Methods: A descriptive study that included the results of a questionnaire administered to 103 participants after the CPR workshops. Results: Participants gave the course a score of 4.7/5, and 3.6/5 for their knowledge of CPR. Almost all (94.2%) of the participants believed that this training is necessary. No statistically significant differences were found between the subgroup with previous knowledge of CPR and the subgroup without any knowledge. Conclusion: The course achieved that its participants had a theoretical knowledge of the CPR manoeuvre, regardless of their previous training. The epidemiological data on cardiovascular risk obtained were similar to those of previous studies.
Breast cancer (BC) is a global health problem. BC is a biologically heterogeneous disease in which novel immunotherapeutic strategies are needed, particularly in the metastatic setting. The NKG2D/NKG2D ligand (NKG2DL) axis is a key component of innate antitumor immunity and represents a potential therapeutic target, but its relevance in BC has not been fully characterized. We performed an in silico analysis of NKG2DL expression in BC cell lines, healthy breast tissue, and tumor samples using publicly available transcriptomic databases (DSMZCellDive, ShinyTHOR, GTEx, TCGA, Human Protein Atlas), complemented by survival analyses from TCGA and KMPlot and a narrative review of the literature. NKG2DL transcripts were consistently expressed in BC cell lines and tumor tissues, with higher expression observed in ductal histology, higher tumor stage, and basal molecular subtype. Survival analyses showed heterogeneous and generally weak associations between individual NKG2DLs and clinical outcomes. In silico proteomics data are scarce, but the narrative review showed that NKG2DLs are expressed by immunohistochemistry in tumor tissues but absent in surrounding healthy tissues. The literature review also revealed concomitant dysfunction of NKG2D+ effector cells due to multiple resistance mechanisms (including ligand shedding). We also review potential therapeutic approaches.