Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations.

Hemangioblastoma (HB) is a Central Nervous System (CNS) tumor with a generally favorable behavior and prognosis, classified as WHO grade 1. Sporadic HB is not related to any inherited disease, and it usually appears in a single location. Sporadic or VHL-related HBs show variable patterns of growth velocity. Cases of growing HB can cause mild symptoms such as headache, but some cases develop serious complications such as accumulation of cerebrospinal fluid in the brain with secondary neurological damage sometimes being irreversible when early treatment is not started. Our case showed some clinical characteristics more frequently observed in VHL-related HB rather than sporadic HB, and the presence of alterations in MDM2 and EGFR that could be related to the oncogenesis of these tumors. Even when the treatment of choice for HB is surgery, the presence of these genetic alterations could open a new window for research aimed at assessing the possibility of new therapies with TKIs-EGFR and anti-MDM2 inhibitors in those HB cases with multifocal recurrences or cases with an adverse clinical behavior.

The Impact of Liquid Biopsies Positive for EGFR Mutations on Overall Survival in Non-Small Cell Lung Cancer Patients.

In recent years, non-small cell lung cancer treatment has been revolutionized. EGFR tyrosine kinase inhibitors and our improved understanding of its alterations have driven new diagnostic strategies. Liquid biopsies have emerged as a useful tool in these contexts, showing potential utility in early diagnosis combined with low-dose CT scans, as well as potential in monitoring treatment response and predicting the development of patients. We studied the circulating tumor DNA (ctDNA) of 38 EGFR-mutated non-small cell lung cancer patients at diagnosis in different moments of their disease by liquid biopsy techniques. Our results show that mean overall survival was significantly lower when a liquid biopsy was positive for the detection of EGFR mutations compared with wild-type patients in their liquid biopsy in both univariate (29 ± 4 vs. 104 ± 19 months; p = 0.004) and multivariate analysis (p = 0.008). Taking this into consideration, liquid biopsies could be key to improving the control of this disease.

Epidemiological Study of Prostate Cancer in the Province of Salamanca (2006-2015).

OBJECTIVES: Knowing the incidence of prostate cancer in Salamanca and its evolution, as well as the age at diagnosis and its evolution. In addition, analyzing the mortality from prostate cancer in the province of Salamanca. METHODS: Descriptive and analytical, longitudinal and retrospective observational study. From the collection of data from the Pathological Anatomy service and the Clinical Documentation service of the Hospital Complex of Salamanca a database was developed for the calculation of incidence rates. The information collected on mortality was obtained through the National Institute of Statistics. For regression analysis, segmented "jointpoint" models were developed. RESULTS: 2676 males diagnosed with prostate cancer were recorded in the province of Salamanca (period 2006-2015). The risk of prostate cancer up to age 74 in 2006 was 6.23%, almost double in 2010. The evolution of mortality rates adjusted to the European population in the province of Salamanca during the period 2006-2015 showed a slight decrease. CONCLUSIONS: In general, Prostate cancer incidence rates increased progressively over the years studied, similar to Spain's overall rates. These rates increased as age progressed. In general, our incidence rates were lower than those reported by the provinces of northern Spain (except Vizcaya) and higher than those recorded by the provinces of southern Spain. In Europe, our rate was surpassed by countries in northern and western Europe and lower than countries in southern and eastern Europe, and part of central Europe. Countries like U.S.A had rates higher than ours, while Canada accounted for a similar rate. On the other hand, mortality rates remained stable during the middle of the study period, suffering from then on a non-statistically significant anual decrease.

Epidemiological Study of Prostate Cancer in the Province of Salamanca (2006-2015)

Objectives: Knowing the incidence of prostate cancer in Salamanca and its evolution, as well as the age at diagnosis and its evolution. In addition, analyzing the mortality from prostate cancer in the province of Salamanca. Methods: Descriptive and analytical, longitudinal and retrospective observational study. From the collection of data from the Pathological Anatomy service and the Clinical Documentation service of the Hospital Complex of Salamanca a database was developed for the calculation of incidence rates. The information collected on mortality was obtained through the National Institute of Statistics. For regression analysis, segmented “jointpoint” models were developed. Results: 2676 males diagnosed with prostate cancer were recorded in the province of Salamanca (period 2006-2015). The risk of prostate cancer up to age 74 in 2006 was 6.23%, almost double in 2010. The evolution of mortality rates adjusted to the European population in the province of Salamanca during the period 2006-2015 showed a slight decrease. Conclusions: In general, Prostate cancer incidence rates increased progressively over the years studied, similar to Spain’s overall rates. These rates increased as age progressed. In general, our incidence rates were lower than those reported by the provinces of northern Spain (except Vizcaya) and higher than those recorded by the provinces of southern Spain. In Europe, our rate was surpassed by countries in northern and western Europe and lower than countries in southern and eastern Europe, and part of central Europe. Countries like U.S.A had rates higher than ours, while Canada accounted for a similar rate. On the other hand, mortality rates remained stable during the middle of the study period, suffering from then on a non-statistically significant anual decrease (AU)

Immunohistochemical Assessment of the P53 Protein as a Predictor of Non-Small Cell Lung Cancer Response to Immunotherapy.

BACKGROUND: Determining predictive biomarkers for immune checkpoint inhibitors (ICIs) is a current challenge in oncology. Previous studies on non-small cell lung cancer (NSCLC) have shown how TP53 gene mutations are correlated with different responses to ICIs. Strong and diffuse immuno-expression of p53 by immunohistochemistry (IHC) is interpreted as a likely indicator of a TP53 gene mutation. We aimed to assess the p53 protein expression via IHC in NSCLC as a predictive biomarker of the response to ICIs. METHODS: This was a retrospective hospital-based study of patients with NSCLC treated with Nivolumab in the University Hospital of Salamanca. All diagnostic biopsies were studied via IHC (measuring p53 protein expression, peroxidase anti-peroxidase immunohistochemistry technique using Leica BOND Polymer development kits). Survival analysis was performed by subgroups of expression of p53 and other factors using the Kaplan-Meier estimator and Cox proportional-hazards model. RESULTS: Seventy-three patients were included (59 men and 14 women). The median age was 68 (44-84) years. Thirty-six biopsies were adenocarcinoma, 34 were squamous, and three were undifferentiated. In 41 biopsies (56.2%), the cellular expression of p53 was <5% (Group A), and in 32 biopsies (43.8%), the expression was ≥5% (Group B). In the general analysis, no differences were observed in overall survival (OS) (A: 12 months vs B: 20 months; p = 0.070) or progression-free survival (PFS) (A: 4 m vs B: 7 m; p = 0.064). Significant differences were observed in adenocarcinomas for both OS (A: 8 m vs B: median not reached; p = 0.002) and PFS (A: 3 m vs 8 m; p = 0.013). No differences in PFS and OS were observed in squamous cell carcinoma. Significant differences were observed in OS in the PD-L1 negative group (0% expression) (A: 13 m vs B: 39 m; p = 0.024), but not in PFS (A: 3 m vs B: 7 m; p = 0.70). No differences were observed in the PD-L1 positive group. CONCLUSIONS: A trend toward a greater response to ICIs was observed in the PFS and OS of patients with high expression of p53 by IHC (TP53 mutation), especially in the PD-L1 negative adenocarcinoma subgroup. These results will make it possible to make future modifications to the clinical guidelines of NSCLC according to the expression of p53.

Influence of DNA Mismatch Repair (MMR) System in Survival and Response to Immune Checkpoint Inhibitors (ICIs) in Non-Small Cell Lung Cancer (NSCLC): Retrospective Analysis.

Mutations in the mismatch repair (MMR) system predict the response to immune checkpoint inhibitors (ICIs) like colon or gastric cancer. However, the MMR system's involvement in non-small cell lung cancer (NSCLC) remains unknown. Addressing this issue will improve clinical guidelines in the case of mutations in the main genes of the MMR system (MLH1, MSH2, MSH6, and PMS2). This work retrospectively assessed the role that these gene mutations play in the response to and survival of ICIs in NSCLC. Patients with NSCLC treated with nivolumab as the second-line treatment in the University Hospital of Salamanca were enrolled in this study. Survival and response analyses were performed according to groups of MMR system gene expression (MMR expression present or deficiency) and other subgroups, such as toxicity. There was a statistically significant relationship between the best response obtained and the expression of the MMR system (p = 0.045). The presence of toxicity grade ≥ 3 was associated with the deficiency expression of MMR (dMMR/MSI-H) group (p = 0.022; odds ratio = 10.167, 95% confidence interval (CI) 1.669-61.919). A trend towards greater survival and response to ICIs was observed in NSCLC and dMMR. Assessing the genes in the MMR system involved in NSCLC is key to obtaining personalized immunotherapy treatments.

Tumor glioneuronal formador de rosetas. Ejemplo poco frecuente de neoplasia del IV ventrículo / Rosette-forming glioneuronal tumor. A rare neoplasm of the fourth ventricle

Presentamos un caso de tumor glioneuronal formador de rosetas del iv ventrículo observado en un adolescente de 14 años, sin antecedentes clínicos de interés. El paciente presentó un cuadro de hidrocefalia obstructiva y se le detectó radiológicamente una lesión ocupante de espacio que afectaba al vermis cerebeloso y que obstruía el iv ventrículo. Los hallazgos histopatológicos mostraron un tumor de apariencia benigna, constituido por estructuras rosetoides centradas por un material fibrilar acidófilo. Dicho tumor fue positivo tanto para marcadores neuronales (sinaptofisina y enolasa) como gliales (PGFA). Tras la descripción, se comentan brevemente las principales características de esta rara entidad (AU)

We present a case of a rosette-forming glioneuronal tumour of the fourth ventricle in a 14-year-old with no relevant previous clinical history. The patient presented with hypertensive hydrocephalus and radiology revealed a space-occupying lesion affecting the cerebellar vermis and obstructing the fourth ventricle. The tumour was removed and was seen to have a benign appearance and to be formed of rosette-like structures composed of acidophilic fibrillary material. It was positive for neuronal markers (synaptophysin and enolase) and glial markers (GRAP). The main features of this rare entity are discussed (AU)

Metástasis coroidea de un leiomiosarcoma. Descripción clínico-patológica de un Caso / Choroidal metastasis from leiomyosarcoma. Case report

Presentamos en nuestro trabajo una metástasis intraocular de leiomiosarcoma, lesión poco frecuente y escasamente descrita en la literatura médica. El ejemplo que nosotros describimos fue observado en una mujer de 70 años de edad previamente diagnosticada y tratada por un leiomiosarcoma de la región humeral, que acudió a nuestro hospital por presentar una masa coroidea que provocó desprendimiento de retina. El estudio histológico del ojo extirpado reveló una neoplasia coroidea maligna, cuyo aspecto microscópico y perfil inmunohistoquímico (positividad para actina y desmina) fueron análogos a los observados en el tumor primario. Comentamos con brevedad este infrecuente hallazgo (AU)

In this work we present a case of an ocular metastasis of leiomyosarcoma, a rare lesion and infrequent on medical literature. This lesion that we describe was observed in a 70-year-old woman diagnosed and treated for an humerus leiomyosarcoma, who was admitted in our hospital because of a choroidal mass that caused a retinal detachment. Histological study of the enucleated eye revealed a choroidal malignant neoplasm whose microscopic appearance and immunohistochemical staining (positivity for Actin and Desmin) were analogous to the patient's primary tumor. We briefly comment this infrequent entity (AU)