Trabalhos Científicos

Detection of actionable mutations in liquid biopsies is a promising tool for management of non-small cell lung cancer (NSCLC) patients. Currently, single-gene assays are available for mutation detection in plasma from NSCLC. A multigenic panel for liquid biopsy would be a tool for the precision medicine of NSCLC. We aimed to evaluate actionable alterations using a multi-gene panel in circulating tumor DNA (ctDNA) of NSCLC patients. We analyzed plasma samples from NSCLC patients: treatment naïve (n=24) and prior-treated (n=8). MagMax Cell-free DNA Isolation Kit (ThermoFisher) was used for ctDNA isolation. Driver variants for 11 genes (Oncomine Lung cfDNA Assay) were assessed by Next-Generation Sequecing. Sequencing data were pre-processed in Ion S5 Torrent Server and aligned to the hg19 human reference genome. Variant calls were performed by IonReporter 5.10 software. The cfDNA concentrations ranged from 0.50 to 15.1ng/µL, the limit of detection raised from 0.14%, and the average of Molecular Read Coverage (MRC) was 80,967.43 (33,456 – 187,502). The most mutated gene was TP53 (46%), followed by KRAS (30%) and EGFR (16%). We observed 13 distinct TP53 variants in 14 out of 30 samples (46%), 12 of them co-occurred with another genes, as KRAS, EGFR, BRAF, MAP2K1 and ALK. Variants in MAP2K1, PIK3CA, and ALK genes were detected only in treatment naïve samples (12%, 4% and 4%, respectively). Variants in TP53, KRAS and EGFR genes were found mostly in samples from prior-treated patients (62%, 37%, 37% respectively). No variants were detected in NRAS, ROS1 and MET. In conclusion, ctDNA multigenic panel was feasible and sensitive for detection of actionable mutations in plasma and can reduce turnaround time and might be a valuable tool for precision medicine of NSCLC.

Background First-line immunotherapy (anti-PD1/PD-L1-based therapy) resulted in significantly improved survival outcomes compared to chemotherapy alone (CT) for patients with advanced non-small-cell lung cancer (NSCLC). With several new data emerging in the histological subgroup of squamous cell lung carcinoma (sqNSCLC), we performed a systematic review and meta-analysis to evaluate first-line anti-PD1/PD-L1-based therapies for advanced sqNSCLC. Methods We searched PubMed, Scopus, and Cochrane Library databases for phase III RCTs comparing anti-PD1/PD-L1-based therapies with CT. Outcomes of interest were PFS, OS, objective response rate (ORR), and grade ≥ 3 treatment-related adverse events (TRAE). Subgroup analysis included intervention regimen, smoking status, PD-L1 expression, and 5-year follow-up. Heterogeneity was examined with I2 statistics, and we used a fixed effects model. Results Twenty-four RCTs were included, with 7,964 patients. Overall, 58.5% received a combination of IO + chemotherapy. In a pooled analysis with a minimum 1-year follow-up, IO-based therapies increased PFS by 44% (HR 0.56 95%CI 0.53-0.60) and OS by 27% (HR 0.73 95%CI 0.69-0.78) compared to CT. In a subgroup analysis, patients with PD-L1 expression ≥1% (HR 0.43 95%CI 0.38-0.5) had a lower risk of disease progression compared with those with PD-L1<1% (HR 0.64 95%CI 0.56-0.73). ORR was 58.5% in patients who received IO and 38.4% in patients on CT only (RR 1.52 95%CI 1.43-1.62). The PFS benefit of IO-based therapies versus CT remained constant across subgroups. We did not find significant differences in subgroup analysis according to double-IO vs. single-IO plus CT, smoking status, and Asian population. Regarding the safety profile, grade ≥ 3 TRAEs was similar between groups (RR 1.01 95%CI 0.96-1.05). Conclusions This systematic review and meta-analysis support anti-PD1-based IO anti-tumor activity and reassure its safety in patients with advanced sqNSCLC. Patients with PD-L1 expression >1% derive the most benefit. Studies are still needed to investigate subgroups such as brain metastasis patients.

Objective: This study aimed to evaluate the outcomes from 2019 to 2023 of a mobile cancer screening program conducted in Southeast Minas Gerais and surrounding areas in Brazil. The program targeted breast, cervical, and prostate cancers, aiming to address the gap in access to regular screening in underserved communities. Methods: The mobile unit, equipped with mammography, Pap smear, and PSA test facilities, visited 100 cities to provide on-site screenings. Results: A total of 29,035 mammograms, 29,582 Pap smears, and 13,700 PSA tests were performed. Abnormalities were identified in 435 mammograms (1.53%), 426 Pap smears (1.48%), and 1,684 PSA tests (12.28%). An increase in the detection rates of abnormalities was observed in 2023, particularly in Pap smears and PSA tests. This trend may be attributed to the disruptions in healthcare access due to the COVID-19 pandemic, which led to fewer screenings in 2020 and potentially more advanced disease states in the following years. Conclusion: The findings indicate the critical role of continuous and accessible cancer screening services, particularly in underserved populations. The increase in detected abnormalities of cervical, breast, and prostate cancer, all susceptible to diagnosis in the precursor or initial phase, underscores the need for regular screenings to prevent late-stage cancer diagnoses.

Galanin Receptor 2 (GALR2) is one of three known receptors for the neuropeptide galanin, and conflicting evidence indicates that GALR2 may be either a tumor suppressor or an oncogene in OSCC. This study evaluated the influence of GALR2 expression by neoplastic cells on tumor progression, innate immunity and response to a non-curative dose of cisplatin. We used a murine orthotopic xenograft model of OSCC. Experimental tumors were induced in 20 athymic nude Balb/c mice by injecting 5x105 SCC9 cells directly into their floor of the mouth. We used SCC9 cells stably-transfected with CMV-driven expression of human GALR2 coding region (pcDNA3.1 plasmid vector, GR2 group, n=10 mice). As negative controls we used SCC9 cells stably-transfected with the empty vector (pcDNA group, n=10 mice). Two weeks after injection, half of the mice were treated with a single non-curative dose of cisplatin (5 mg/Kg, i.p.) forming the groups GR2+CP (n=5 mice) and pcDNA+CP (n=5 mice). The other half of the mice received i.p. injections of the vehicle. A week after treatment, animals were euthanized and tumors were collected, processed and analyzed descriptively, by immunofluorescence (IF), RT-qPCR and flow cytometry. Volume and weight of experimental tumors were similar in GR2 and pcDNA groups, but the overall leukocyte infiltration (CD45+ cells) was increased in GR2 tumors. Cisplatin treatment reduced tumor volume and weight similarly in GR2+CP and pcDNA+CP groups. GR2 tumors were poorly differentiated in comparison with pcDNA tumors. Treatment with cisplatin increased infiltration of inflammatory cells in both groups and caused pulmonary metastasis in pcDNA tumors, which is associated with increased expression of vimentin. Flow cytometry analysis indicated that macrophage (F4/80+ cells) infiltration was similar in pcDNA and GR2 tumors, but cisplatin treatment increased macrophages only in pcDNA tumors (pcDNA+CP). Cisplatin treatment increased infiltration of total myeloid cells (CD45+CD11b+), PMNs (CD45+Ly6G+) and activated PMNs (CD45+Ly6G+CD80+) in both GR2 and pcDNA tumors. These results indicate that overexpression of GALR2 induces poorly differentiated tumors with increased infiltration of inflammatory cells. The increased pulmonary metastasis in pcDNA tumors indicates that for SCC9 cells GALR2 expression functions as a tumor suppressor. Moreover, GALR2 expression did not affect the response to cisplatin. Financial Support: FAPESP (2022/06041-0; 2020/00394-2).

The literature on clinical and biological GIST characteristics in YA patients (18 – 40 years at diagnosis) is scarce. This retrospective cohort study aims to describe the clinical, pathological, and molecular characteristics of GIST in YA patients, comparing findings with a group of older adults (OA) with GIST. All GIST patients diagnosed between January 2010 and December 2023 who received first treatment at A.C.Camargo Cancer Center were included. Patients whose diagnosis was not confirmed by one of our sarcoma specialized pathologists were excluded. GIST risk was determined by the modified NIH criteria. Overall survival (OS) was estimated using Kaplan-Meier method. Comparison between YA and OA (> 40 years at diagnosis) groups were performed by Chi-square, Fisher’s exact, Mann-Whitney U test. From 402 GIST patients treated in our center, 249 were included in this study: 18 YA (7.2%) and 231 OA (92.7%). In the YA cohort, 12 (66.7%) were female, median age 34 years. Main primary tumor locations for YA patients were stomach (44.4%) and small intestine (24.5%), and median tumor size was 5.4 cm (2 – 17.1 cm). Most of the YA patients presented disease symptoms at diagnosis (72.2%). Four (22%) YA with localized disease presented high-risk GIST, and 6 (33%) YA patients had metastatic disease at diagnosis, most of them (3 patients) presenting metastasis to the liver. One YA patient had a known genetic predisposition which was a germline SDHA mutation, and another one harbored a germline MUTYH pathogenic mutation. GIST genetic profile test was performed for 50 patients (20%): 11 YA patients (61%) and 40 OA (17%). In the YA group, a KIT exon 11 mutation was found in 7 patients, a PDGFRA D842V mutation in 3 patients, and a SDHA mutation in 1 patient. The characteristics of the entire cohort are presented in table 1. No significant differences were found between the two subgroups regarding gender, location, size, morphology, risk classification, and mutation status. YA patients presented significantly more metastatic disease at diagnosis compared to OA (33.3% versus 11.7%, respectively; p = 0.02). With a median follow-up of 48 months (95% CI 37 – 59 months), median OS for all patients was not reached (95% CI 135 – 151 months). No death in the YA group was reported. Five-year OS rate was 92.2% and 100% in the OA and YA groups, respectively.

Melanoma is a severe skin cancer known for its rapid progression and potential for metastasis. Originating from pigment-producing melanocytes, it can lead to high morbidity and mortality if not detected early. This study retrospectively analyzed the electronic medical records of 271 melanoma patients diagnosed at Hospital do Cancer de Muriaé da Fundação Cristiano Varella, in Minas Gerais, between 2010 and 2020. Descriptive statistics summarized patient characteristics, while the chi-square test evaluated variable associations and Kaplan-Meier method estimated survival. Statistical significance was defined as p-values < 0.05. The analysis, approved by the local IRB (CAAE #55961622.6.0000.5105), included 136 men (50.2%) and 135 women, with a median age of 63 years (range 20 to 95), and mean follow-up of 36 months. Women were diagnosed at a younger age, with 32.6% under 50 years compared to 16.2% of men (p=0.002). Tobacco and alcohol use were more prevalent among men (36.8% and 38.9%, respectively) than women (12.5% and 10.3%, respectively) (p<0.001). No significant difference in family history of cancer was noted between genders (p=0.253). Melanoma lesions were most commonly located on the limbs (39.1%), followed by the trunk (29.5%) and face (19.2%), with no significant gender differences (p=0.411). Most patients underwent surgery only (61.3%), while 15.5% also received chemotherapy or immunotherapy, with no gender differences in treatment type (p=0.238). Regarding disease stage, we noted that localized disease (stages 0 to II) was more frequent in women (61.7%) than men (50.8%), while advanced disease (stages III and IV) was more common in men (49.1% vs. 38.3%, respectively) (p=0.044). Patients with localized disease had better overall survival (OS) compared to those with advanced disease (p<0.001). Additionally, women had a longer OS than men, with a 5-year survival rate of 75% for women compared to 50% for men (p<0.001). Our study highlights significant gender differences in melanoma outcomes, revealing that women are diagnosed at a younger age and have a better overall survival compared to men. Men exhibit higher rates of advanced disease and greater prevalence of tobacco and alcohol use, factors that contribute to their poorer prognosis. The findings emphasize the critical need for targeted early detection strategies and tailored screening programs to improve outcomes, particularly for men who are at higher risk for advanced melanoma.

Introduction: Cancer of unknown primary origin (CUP) accounts for 3-5% of cancer diagnoses worldwide, with around 21,000 new cases expected in Brazil between 2023 and 2025. Identifying the primary site of CUP is essential for targeted treatments, improving survival. We developed an in silico gene expression classifier to identify the primary site in metastatic cancers. Using a reference database of 6,789 cancer samples of known primary sites, a machine learning model with 48 predictive genes achieved 92% accuracy in the training set and 89% in the testing set, showing promise for CUP diagnosis. Objective: To assess the algorithm's performance in identifying the primary site in real patients metastatic cancer samples. Method: mRNA was extracted from 99 Formalin-Fixed Paraffin-Embedded (FFPE) metastatic cancer biopsies across 17 superclasses, converted to cDNA, and analyzed via qPCR for 48 pre-selected predictive genes. The gene expression data were normalized using the Delta Ct method and input into the algorithm to predict the primary site. Predictions were compared to actual superclasses to evaluate accuracy. Results: The algorithm produced a probability distribution for each tumor sample across the 17 superclasses, with the highest probability indicating the predicted class. It correctly identified the primary site in 23% of samples (23/99) for individual classification, with strong performance in liver and breast superclasses, achieving 100% (2/2) and 67% (14/21) accuracy, respectively. In a group classification assessment, where the true superclass was among the top three predicted, the correct classification rate improved to 44.4% (44/99). Notable improvements were seen in melanoma, intestine, and uterus superclasses, with 83% (5/6), 73% (11/15), and 67% (6/9) accuracy, respectively. Conclusion: This study shows the algorithm's potential to identify the primary site of metastatic cancers. To enhance performance, further modeling and data enrichment for underrepresented superclasses are needed, making the model more accurate and generalizable. With optimization, this algorithm could become a valuable tool for diagnosing CUP, leading to more targeted treatments.

Introduction: Hereditary cancer syndromes (HCSs) represent approximately 10% of all cancer cases, despite being frequently underdiagnosed. Advances in the next-generation sequencing and the recent discovery of the new genes associated with cancer became genetic testing a crucial step in routine diagnosis for HCSs. Objective: To evaluate the occurrence of germline mutations in genes related to HCSs in risk patients. Method: The cohort included 200 individuals with family history suggestive of predisposition to hereditary cancer, that sought genetic counseling service in Campos dos Goytacazes-RJ from July 2020 to July 2024. The genetic tests performed comprised multigene panels that the pathogenicity of the variants detected by next-generation sequencing was established according to the American College of Medical Genetics criteria. Results: The hereditary origin of malignant neoplasia was confirmed in 24% of the tested patients. Breast cancer was the most frequent type, with pathogenic mutations detected mainly in the BRCA1 gene, followed by a missense mutation in the TP53 gene [c.1010G>A: p.(Arg337His)], associated to Li-Fraumeni syndrome. The second most frequent type of hereditary cancer was colorectal, with mutations related to Familial Adenomatous Polyposis (APC and MUTYH genes), Lynch and Muir-Torre syndromes (MLH1 and MSH2 genes). It is imperative to highlight that pathogenic variants related to HCSs were detected in 8% of individuals without previously malignant neoplasia, including an Ashkenazi Jewish male descendant with pathogenic mutation in the BRCA1 gene [c.68_69del.(Glu23Valfs*17)], which allowed the establishment of personalized preventive programs and familial cascade testing. Moreover, variants of uncertain clinical significance (VUS) were reported in 50,5% of the tested individuals, comprehending 68 different genes. Conclusion: The results indicated that genetic testing for HCSs allowed patients with an increased risk of familial cancer to receive appropriate therapeutic management that may reduce risk for themselves and their family members. Additionally, expanded multigene testing enables the identification of pathogenic variants in rare and non-classical genes, besides the most frequent HCSs-related genes.

Background: Bladder carcinoma, the second most common genitourinary malignancy, frequently presents as non-muscle invasive bladder cancer (NMIBC), a potentially curable stage. The primary therapeutic objective is to prevent progression to muscle-invasive disease, with bacillus Calmette-Guérin (BCG) immunotherapy as the standard treatment. However, variability in patient responses to BCG, coupled with current BCG shortages, underscores the urgent need for reliable biomarkers to predict treatment outcomes. We aim to explore the genomic landscape and tumor microenvironment dynamics in non-muscle invasive bladder cancer in patients treated with BCG to identify potential predictors of treatment response. Methods: A total of 106 patients diagnosed with NMIBC and treated with intravesical BCG were included in this study. Patients were categorized into two groups: BCG-responsive (n=47) and BCG-unresponsive (n=59), based on their treatment outcomes at a single institution. Immunohistochemistry was employed to assess PD-L1 expression, while MSI was evaluated using a commercial multiplex PCR kit. The mRNA expression profile was analyzed using the nCounter PanCancer Pathways Panel, which encompasses 770 genes. Results: Among the 106 patients studied, only one (<1%) exhibited microsatellite instability (MSI). PD-L1 expression was detected in 9.4% of cases, with no significant association found between PD-L1 expression and BCG responsiveness. Eight genes were identified as differentially expressed between the BCG-responsive and BCG-unresponsive groups. High mRNA expression levels of LAMB3, CCND2, and LILRA3 were associated with BCG responsiveness, while elevated mRNA expression of RRMA2, ANLN, UBEC2C, KIF2C, and MAGEA3/A6 were linked to BCG unresponsiveness. ROC curves were generated for each gene, with all except MAGEA3/A6 demonstrating an area under the curve (AUC) greater than 0.7. Lasso regression analysis highlighted five key genes: LAMB3, CCND2, LILRA3, UBEC2C, and KIF2C. A risk score model based on these five genes yielded an ROC curve with an AUC of 0.844, a sensitivity of 66.1%, and a specificity of 91.5%. Conclusion: In NMIBC, microsatellite instability (MSI) is rare, and PD-L1 expression is observed in a small subset of cases. A five-gene signature associated with BCG responsiveness has been identified, suggesting a potential new prognostic tool for predicting response to BCG treatment in high-risk NMIBC patients.

Introduction: Breast cancer (BC) is the most frequent neoplasm, and the main cause of deaths associated with cancer among women in Brazil. Despite genetic advances, only few studies have focused on the HER2-BC subtype, especially in mixed ancestry populations. The impact of germline and somatic data on prognosis and treatment response is poorly understood in this subgroup of BC patients. Aim: We performed a large-scale prospective exome sequencing of matched tumor-blood samples from Brazilian patients with locally advanced HER2-positive BC to investigate the germline and somatic landscape of genomic alterations and their association with clinical data. Methods: This is a multicenter study approved by the coordinating institution and local ethics committees. The sample consists of women diagnosed with stage II or III HER2-positive BC treated with neoadjuvant anti-HER2 regimen from all Brazilian regions. Clinical, cancer treatment and demographic data were collected. Germline DNA was extracted from blood and tumor DNA from formalin-fixed paraffin-embedded biopsy. Whole-exome sequencing was performed, and genetic variants were interpreted according to specific guidelines. Results: From a total of 260 patients, 53 patients (20.3%) carried pathogenic (PV) or likely pathogenic (LPV) germline variants. Out of these, 23 (8.8% from total) showed PV or LPV in well-known BC predisposing genes, with BRCA2 and TP53 being the most frequently altered genes. The median age at diagnosis was 6 years earlier in PV and LPV carriers (43 years, 36.5-53.0) compared to non-carriers (49 years, 42.0-58.0) (p-value = 0.012). Regarding somatic mutations, 102 samples were analyzed; the most recurrent oncogenic mutations occurred in TP53 (69 tumors; 67.0%) and PIK3CA (44 tumors; 43.0%) genes. Genomic alterations in KMT2C, CDH1, GATA3, NF1 and other genes have a prevalence lower than 5% each. The mean tumor mutational burden was 6.7 (±18.3) mutations/Mb, and 7.8% (n=8) cases showed more than 10 mutations/Mb. Microsatellite instability was rare, identified in only 2 (1.9%) of the 102 cases analyzed. Conclusion: This is the first Brazilian study to perform comprehensive genomic analyses in patients with early HER2-positive BC from different regions of the country. We showed germline PV or LPV in BC predisposing genes in less than 10% of patients, which is in accordance with the literature. Somatic mutations in TP53 were the most frequent alterations found in HER2-positive tumors.

Introduction: Access to next-generation sequencing (NGS) has increased the detection of actionable variants in cancer drivers. However, distinguishing between germline and somatic mutations remains a significant challenge in tumor-only NGS. Given the potential implications for patient care and familial risk, identifying potential germline variants in non-squamous NSCLC has become increasingly important. Objective: To determine the proportion of NSCLC cases that meet different criteria for germline testing based on conservative thresholds from ESMO and ASCO guidelines. Methods: Retrospective analysis using anonymized NGS data (180, 395 or 700+ gene panels) from patients eligible to Lung Map Consortium at Oncoclinicas Medicina de Precisão (OCPM) and Boston Lighthouse Innovation (BLI) labs from April 2021 to August 2024. Variants were filtered using three gene lists: ESMO More Conservative (9 genes), ESMO Less Conservative (21 genes) and ASCO Less Conservative (34 genes). GTR were calculated for each category, considering only pathogenic/likely pathogenic variants with a variant allele frequency (VAF) ≥ 20%. Results: NGS data from 1,468 cases were evaluated. Median age was 70 years (21-97), with most samples from the Southeast (64.5%) and Northeast (16.5%) regions. GTR for the ESMO More Conservative, ESMO Less Conservative and ASCO Less Conservative were 1.4% (N = 20), 3.9% (N = 58) and 11.9% (N = 175), respectively. The most frequently mutated genes in ESMO More Conservative list were BRCA2 (N = 5), EGFR T790M (N = 4), RET (N = 4), and TP53 R337H (N = 3). In the ESMO Less Conservative list, BRIP1 (N = 14), MUTYH (N = 11), TSC2 (N = 5), PMS2 (N = 4), RAD51C (N = 3) were predominant. Finally, in the ASCO Less Conservative criteria the most frequent genes were ATM (N = 71), NF1 (N = 35) and PTCH1 (N = 12). Conclusion: Our findings indicate that using more conservative ESMO criteria, less than 4% of advanced NSCLC would qualify for germline testing after tumor-only NGS. However, up to 12% would be eligible for genetic counseling and germline testing under the less conservative ASCO criteria, primarily due to ATM variants (4.8% of cases). Identifying a larger proportion of NSCLC patients at risk of hereditary cancer syndromes could enhance personalized treatment strategies and familial risk assessments, although broader implementation of these criteria needs further validation.

Introduction: Pembrolizumab is a key monoclonal antibody in immunotherapy, acting as a PD-1 receptor inhibitor. It is used to treat various malignant tumors, including advanced endometrial cancer, either alone or in combination with chemotherapy. Pembrolizumab shows promise in enhancing overall survival and progression-free survival, with a favorable safety profile. Objective: This review examines the clinical effects of pembrolizumab on advanced/recurrent endometrial cancer with mismatch repair deficiency (dMMR), focusing on overall survival (OS), progression-free survival (PFS), response rates, and adverse events. Method: This literature review was conducted using data from the PubMed databases. The search strategy involved the use of the MeSH descriptors "Pembrolizumab," "Endometrial cancer advanced,","mismatch repair," combined with the Boolean operator "and." The search was performed on August 12, 2024. In PubMed, 46 articles were identified. Articles with titles and abstracts relevant to the topic and published between 2023/24 were included. Studies not published in English or identified through citations were excluded. This process resulted in a final sample of 34 Results: The Phase III KEYNOTE-868 trial randomized 816 patients with advanced endometrial cancer into two groups: one receiving pembrolizumab and the other receiving placebo, both in conjunction with standard therapy of paclitaxel and carboplatin, followed by maintenance with pembrolizumab or placebo. Patients were further stratified into two cohorts based on mismatch repair status: deficient (dMMR) or proficient (pMMR), with median follow-ups of 12 and 7.9 months, respectively. At the 12-month mark in the dMMR cohort, the risk of disease progression or death was reduced by 70% with pembrolizumab compared to placebo; the disease progression-free survival rates were 74% and 38%, respectively (HR, 0.30; 95% CI, 0.19 to 0.48; P<0.001). In contrast, in the pMMR cohort with an average follow-up of 7.9 months, the median progression-free survival was 13.1 months with pembrolizumab compared to 8.7 months with placebo (HR, 0.54; 95% CI, 0.41 to 0.71; P<0.001). Additionally, the addition of pembrolizumab did not appear to increase the frequency of adverse events. Conclusion: Pembrolizumab, combined with chemotherapy and continued as maintenance therapy, significantly improves progression-free survival compared to placebo in both dMMR and pMMR endometrial cancer patients, showing promising results.

INTRODUCTION: BREAST CANCER IS CONSIDERED AN IMPORTANT HEALTH PROBLEM PUBLIC HEALTH, ESPECIALLY AMONG DEVELOPING COUNTRIES, WITH MUTATIONS IN BRCA1 AND BRCA2 ARE RESPONSIBLE FOR MOST CANCERS ATTRIBUTED TO SINGLE MUTATIONS AND ABOUT 3% OF ALL BREAST CANCERS, CONFIGURING THE SYNDROME OF HEREDITARY PREDISPOSITION TO BREAST CANCER AND OVARY (HBOC). OBJECTIVE: TO EVALUATE THE NUMBER OF INDIVIDUALS WHO COMPLETE CRITERIA FOR HEREDITARY BREAST CANCER PREDISPOSITION SYNDROME AND OVARY AMONG PATIENTS WITH BREAST CANCER IN A REFERENCE CENTER IN BELÉM – BRAZIL. METHODOLOGY: AN EPIDEMIOLOGICAL STUDY WAS CARRIED OUT, OBSERVATIONAL, DESCRIPTIVE CROSS-SECTIONAL DESIGN OF INDIVIDUALS WHO COMPLETED CLINICAL CRITERIA FOR HBOC, BASED ON THE NATIONAL COMPREHENSIVE CANCER NETWORK (NCCN 2023) GUIDELINE AMONG BREAST CANCER PATIENTS IN TREATMENT. THE RESEARCH WAS CARRIED OUT AT THE CHEMOTHERAPY OUTPATIENT CLINIC OF THE JOÃO DE BARROS BARRETO UNIVERSITY HOSPITAL – HUJBB, IN THE PERIOD OF JANUARY 2023 TO JANUARY 2024. RESULTS: DATA WERE COLLECTED FROM 200 PATIENTS, OF WHICH 199 WERE FEMALE AND 1 MALE. ANOTHER VARIABLE ANALYZED WAS AGE, WITH THE MAJORITY (38 PATIENTS) IN THE AGE GROUP BETWEEN 51 AND 55 YEARS OLD, AND 36.5% WERE UNDER 50 YEARS OLD. REGARDING COLOR, THE MAJORITY OF PATIENTS WERE BROWN (TOTALING 188 INDIVIDUALS). REGARDING THE EDUCATION LEVEL OBSERVED, THE VAST MAJORITY HAD COMPLETED SECONDARY EDUCATION (80 PEOPLE), FOLLOWED BY COMPLETE PRIMARY EDUCATION (32 PEOPLE). IN THE CONTEXT OF THE MOLECULAR TYPE, LUMINAL B STOOD OUT WITH 34.5% OF THE TOTAL POPULATION AND THE LEAST FOUND WAS THE HER2 SUBTYPE, WITH 16 PATIENTS. IN THE CONTEXT OF HISTOLOGICAL TYPE, 51.5% WAS REPRESENTED BY THE NON-SPECIAL TYPE. REGARDING STAGING, 55% WERE STAGE I AND II AND 6.5% WERE METASTATIC. AND FINALLY, REGARDING AT HBOC, 48 PATIENTS MET CLINICAL CRITERIA, REPRESENTING 24% OF THE POPULATION STUDIED AND DESERVE SPECIALIZED ONCOGENETIC EVALUATION. CONCLUSION: THE RESULT MADE IT POSSIBLE TO PROVIDE VALUABLE DATA FOR MONITORING OF THESE PATIENTS AND DIRECTING THE ATTENTION OF LOCAL HEALTH PROFESSIONALS FOR THIS GROUP OF INDIVIDUALS IN ORDER TO STIMULATE ACTIONS THAT STRENGTHEN THE PREVENTION, EARLY DIAGNOSIS AND ADEQUATE GENETIC COUNSELING.

INTRODUCTION: Lung cancer (LC) is one of the leading causes of mortality, particularly in regions with limited access to healthcare services. However, the literature lacks studies on hospitalizations in Piauí (PI) that could inform more effective health policies. OBJECTIVES: To evaluate the temporal trend and compare lung cancer hospitalizations in PI with other states in the Northeast of Brazil, outlining the epidemiological profile. METHODS: A descriptive ecological epidemiological study was conducted using data from the Hospital Information System (SIH) from 2014 to 2023, concerning hospitalizations for malignant neoplasms of the bronchi and lungs (ICD C34). The variables analyzed included the year and month of service, number of hospitalizations, hospitalization rate per 100,000 inhabitants, sex, age, and type of service. Statistical analysis was performed using Simple Linear Regression, Kruskal-Wallis test, and Dunn's post-hoc test, using Statistics Kingdom software. RESULTS: A total of 2,193 hospitalizations for LC were recorded in PI during the study period. A trend of reduction by 0.03 hospitalizations per month was observed (p < 0.05, β1 = -0.030, CI [-0.057, -0.003], R = -0.20). The Kruskal-Wallis test, followed by Dunn's test, showed that PI had a significantly lower hospitalization rate compared to Ceará, Rio Grande do Norte, and Pernambuco (p < 0.05), with no significant differences compared to other states. The epidemiological profile indicated that the male sex had a 1.27 times higher hospitalization rate than females, the hospitalization rate in the elderly was 8.50 times higher than in adults, and 76.6% of hospitalizations occurred on an emergency basis. CONCLUSION: PI shows a reduction in LC hospitalizations, with rates lower than neighboring states. Men and the elderly are the most affected, with the majority of hospitalizations being emergency cases. The results suggest that this difference may be due to more effective preventive strategies, underreporting of cases, or greater exposure to risk factors in these groups. Future studies are needed to confirm these hypotheses and guide more targeted interventions.

INTRODUCTION: Malignant Bladder Neoplasm is a condition with high morbidity, with smoking being the main risk factor. Given the relevance of this issue to Brazilian public health, it is essential to monitor the trends of this disease in different regions of the country. OBJECTIVE: To analyze the hospitalization rate and mortality of Malignant Bladder Neoplasm in Brazilian regions from 2014 to 2023. METHOD: This descriptive ecological study used data from the Hospital Information System (SIH/SUS) between January 2014 and December 2023. The variables analyzed were region, hospitalization rate, and mortality. Data were tabulated in Microsoft Excel and statistically analyzed using the Kruskal-Wallis test in GraphPad Prism 9, with significance set at p<0,05. RESULTS: There were 178,716 hospitalizations for Malignant Bladder Neoplasm in Brazil during the study period, with a hospitalization rate of 8.54/100,000 inhabitants. The Northern region had the lowest hospitalization rate (1.84/100,000 inhabitants) and the highest mortality rate (9.30%), while the Southern region had the highest hospitalization rate (12.93/100,000 inhabitants) and the second lowest mortality rate (6.28%). The high mortality and low hospitalization rate in the Northern region suggest challenges in early diagnosis and treatment, whereas the Southern region, with a high hospitalization rate and low mortality, reflects better access to health services. Significant differences were observed between regional hospitalization rates (p<0,001), indicated by ANOVA. CONCLUSION: The findings reflect regional disparities in Brazil regarding the diagnosis and treatment of Malignant Bladder Neoplasm, as indicated by the literature. Thus, this study highlights the need for public policies to reduce regional disparities in health access.

Introduction: Individuals diagnosed with cancer may experience a burden on their physical and mental health. Thus, Health-Related Quality of Life (HRQoL) becomes an important parameter for assessing the health of these patients. Objective: To describe the characteristics and identify the factors associated with the HRQoL of cancer patients indicated for chemotherapy treatment. Methods: A cross-sectional study was conducted with adult patients diagnosed with stage I, II, or III cancer who were indicated for outpatient chemotherapy treatment at a referral hospital for cancer treatment in Brazil. Data regarding sociodemographic information and tumor characterization were obtained through a questionnaire formulated by the authors and HRQoL data were assessed using the EQ-5D3L. Descriptive analyses and bivariate analyses were performed using Fisher's Exact Test to investigate the associations between the variables and the HRQoL outcome variable. Results: A total of 84 patients were investigated, with a mean age of 57.68 years. The majority were women (72.62%), brown (40.48%), with primary education (48.81%), and married (51.19%). The average time from diagnosis to the start of treatment was 120 days. More than half of the sample had comorbidities (60.71%). The most common malignant neoplasm was breast cancer (57.14%), at clinical stage II (57.14%). The mean final EQ-5D3L score was 77.79. There was a statistically significant association between the variables "having comorbidities" and gender with domains 1 and 5 of the EQ-5D3L, indicating that impaired mobility was associated with the presence of patient's comorbidities (p=0.009), while females experienced more symptoms of anxiety and depression than males (p=0.005). Additionally, the majority of the sample had both low NLR and LPR, 76.54% and 72.84% respectively, and increased CRP levels (84.52%). Conclusions: The deteriorating health of patients undergoing chemotherapy highlights the need for validated tools that assess HRQoL, allowing for early identification of problems and personalized interventions promptly.

Introduction: Hematologic cancers result from genetic alterations that activate oncogenes or inactivate tumor suppressor genes in hematopoietic cells, causing uncontrolled proliferation. As the population ages, the incidence of these cancers increases, presenting a growing challenge in public health management. OBJECTIVE: To assess mortality trends from hematologic cancer in the elderly population in Brazil between January 2014 and June 2024. METHODOLOGY: Cross-sectional study including the ICD-10 list for hematologic neoplasms in individuals over 60 years. We analyzed hematologic cancer mortality in the elderly population in Brazil, using data from the Database of the Department of Informatics of the Unified Health System (DATASUS). The information was organized by Federation Unit (UF) and region, considering variables such as mortality rate, sex, ethnicity, age group (60-69, 70-79, 80+), and year (2014-2024). We follow STROBE Statement guidelines. RESULTS: In the period analyzed, 26,790 deaths from hematological cancers were recorded, with the highest incidence in the North (20.56%), followed by the Northeast (17.6%) and Midwest (16.54%). The states with the highest mortality rates were Pará (32.56%), Amapá (29.61%), Sergipe (27.76%). The total mortality rate was 15.75%, with the lowest rates in the Southeast (14.8%) and South (15.8%). Pernambuco (10.44%) and the Federal District (12.06%) had the lowest mortality rates. Mortality was higher among women (15.85%) compared to men (15.72%), except in the Midwest. Among racial/ethnic groups, Pardos (20.37%) and Pretos (20.29%) had the highest rates, while Whites had the lowest (18.9%). Regional differences in mortality rates from hematological cancers reflect socioeconomic influences, access to health services, and exposure to risk factors, with ethnic disparities standing out. The high mortality among women suggests the need to improve screening in this population, while regional differences reinforce the importance of a distribution of resources based on statistical analysis. Regional and equitable approaches are essential to improve the outcomes of hematologic cancers in Brazil. CONCLUSION: In elderly patients with hematologic cancer, it was possible to perceive how socioeconomic, gender, and access factors affected mortality trends. It's essential to implement region-specific and equitable strategies to address and reduce the disparities identified in this study.