Carcinoma of the cervix – risk factors, prevention, diagnosis and treatment

O câncer de colo uterino é o segundo tipo de câncer mais frequente entre as mulheresde todo o mundo e também no Brasil. Sua maior incidência se dá em mulheres entre45 e 49 anos de idade e estima-se que o rastreamento sistemático e o tratamento de lesõesprecursoras possam reduzir a mortalidade pela doença em até 80%. O principal fator de riscoé a infecção pelo Papiloma Vírus Humano (HPV) e já foram desenvolvidas vacinas contra osprincipais tipos oncogênicos do vírus. A redução da mortalidade decorrente dessa doençadepende da adoção de medidas de prevenção primária, de diagnóstico e tratamento de lesõesprecursoras bem como do diagnóstico e tratamento adequados das lesões invasivas.The cervical cancer is the second leading cause of cancer between womenaround the world, as in Brazil. The highest incidence is in women aged 45-49 years and themortality can be reduced by 80% with the systematic screening and treatment of precursorlesions. Human papillomavirus is the major risk factor and vaccines were recent developed.Strategies to reduction of cervical cancer mortality include prevention measures, diagnosis andtreatment of early and invasive lesions

Homologous recombination deficiency in ovarian cancer: a review of its epidemiology and management

Ovarian cancer patients with homologous recombination deficiencies exhibit specific clinical behaviors, and improved responses to treatments, such as platinum-based chemotherapy and poly (ADP-ribose) polymerase (PARP) inhibitors, have been observed. Germline mutations in the BRCA 1/2 genes are the most well-known mechanisms of homologous recombination deficiency. However, other mechanisms, such as germline and somatic mutations in other homologous recombination genes and epigenetic modifications, have also been implicated in homologous recombination deficiency. The epidemiology and implications of these other mechanisms need to be better understood to improve the treatment strategies for these patients. Furthermore, an evaluation of various diagnostic tests to investigate homologous recombination deficiency is essential. Comprehension of the role of homologous recombination deficiency in ovarian cancer also allows the development of therapeutic combinations that can improve the efficacy of treatment. In this review, we discuss the epidemiology and management of homologous recombination deficiency in ovarian cancer patients

Stafne?s bone defect in a metastatic prostate cancer patient : a diagnostic conundrum

Stafne?s bone defect (SBD) is an uncommon bone alteration that affects the mandible and usually presents as an asymptomatic radiolucency located in the posterior region of body or angle of the mandible, below the alveolar canal. Although clinical and radiographic features are more often sufficient for the diagnosis, other lesions and bone alterations have been described in the differential diagnosis and may lead to a misinterpretation and an incorrect diagnosis. Herein, we report a case of an 89-yearold man with metastatic prostate cancer to multiple bones, presenting an asymptomatic solitary well-defined radiolucent image on the right side of the posterior body of the mandible, in close contact with its inferior border. A bone depression was confirmed by computed tomography scans of the mandible and a metastatic inclusion was ruled out by bone scintigraphy with a final diagnosis of SBD. The aim of this report was to highlight the importance of differentiating SBD from metastases in cancer patients and to reinforce the usefulness of multiple imaging modalities in the differential diagnosis of SBD

Association of family risk and lifestyle/comorbidities in ovarian cancer patients

Summary Objectives: to analyze factors that might indicate familial predisposition for ovarian cancer in patients diagnosed with this disease. Methods: in a prospective single center cohort study at the Institute of Cancer of the State of São Paulo (ICESP), 51 women diagnosed with ovarian cancer were included. Familial predisposition for ovarian cancer was defined as having a higher than 10% chance of having a BRCA1/2 mutation according to the Manchester scoring system, a validated method to assess the likelihood of mutation detection. Each patient was interviewed with a standardized questionnaire on established risk factors for ovarian cancer and other factors that might influence the risk to develop ovarian cancer. Logistic regression analyses were performed to estimate the impact of the evaluated factors on the likelihood of mutation detection, by calculating odds ratios and 95% confidence intervals. Results: seventeen out of 51 patients had a family history of breast and/or ovarian cancer, four patients had a history of breast or endometrial cancer, 11 were diagnosed before the age of 50, and 12 presented a risk of familial predisposition to ovarian cancer higher than 10%. Patients with comorbidities, such as hypertension, diabetes, hormonal disorders, dyslipidemia and psychiatric conditions, presented a lower chance of having a familial predisposition for ovarian cancer (OR: 0.22; 95% CI: 0.06-0.88; p=0.03). Conclusion: in this study, having comorbidities was associated with a lower risk of having a familial predisposition for ovarian cancer. Other factors associated with the risk of ovarian cancer did not have an impact on this predisposition

First report of a clinical isolate of Candida haemulonii in Brazil

Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2010/09715-4]Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP

Cost effectiveness of the cancer prevention program for carriers of the BRCA1/2 mutation

OBJECTIVE: To analyze the cost effectiveness of the diagnostic program for the germline mutation in BRCA1/2 genes and of preventative strategies for the relatives of patients diagnosed with ovarian cancer associated with this mutation. METHODS: The study analyzed the cost effectiveness by developing an analysis of the Markov decision process from the perspective of the National Health System. The strategies compared reflect upon the adoption of genetic testing and preventative strategies for relatives or the usual care currently proposed. The incremental cost-effectiveness ratio was expressed in terms of cost per case avoided. The sensitivity analysis was performed in a univariate and deterministic manner. RESULTS: The study showed increments for effectiveness and for costs when performing genetic testing and adopting prophylactic measures for family members. The incremental cost-effectiveness ratio was estimated at R$908.58 per case of cancer avoided, a figure considered lower than the study's cost-effectiveness threshold (R$7,543.50). CONCLUSIONS: The program analyzed should be considered a cost-effective strategy for the national situation. Studies in various other countries have reached similar conclusions. One possible ramification of this research might the need to perform a budgetary-impact analysis of making the program one of the country's health policies

Germline and Somatic mutations in postmenopausal breast cancer patients

OBJECTIVES: In breast cancer (BC) patients, the frequency of germline BRCA mutations (gBRCA) may vary according to the ethnic background, age, and family history of cancer. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) is the second most common somatic mutated gene in BC; however, the association of mutations in both genes with cancer has not been thoroughly investigated. Thus, our aims were to investigate gBRCA mutation frequency in a cohort of postmenopausal Brazilian BC patients and the association of gBRCA1/BRCA2 and PIK3CA somatic mutations. METHODS: Forty-nine postmenopausal (>55 years) and forty-one young (≤35 years) BC patients were included in this study. The postmenopausal group included patients who reported a positive family history of cancer. For these patients, gBRCA1/BRCA2 were sequenced using next-generation sequencing (NGS) or Sanger sequencing. Data for gBRCA in young patients were already available from a previous study. DNA from formalin-fixed, paraffin-embedded (FFPE) tumors was obtained from 27 postmenopausal and 41 young patients for analyzing exons 9 and 20 of PIK3CA. The association between gBRCA1/BRCA2 and somatic mutations in PIK3CA was investigated. RESULTS: The overall frequency of gBRCA1/BRCA2 among the 49 postmenopausal patients was 10.2%. The frequencies of somatic mutations in PIK3CA in the postmenopausal and young patients were 37% and 17%, respectively (ns). The most common PIK3CA mutation was found to be E454A. Nonsense and frameshift mutations, which may counteract the oncogenic potential of PIK3CA were also detected. Regardless of age, 25% of BRCA1/BRCA2 mutation carriers and non-carriers , each, had PIK3CA somatic mutations. CONCLUSIONS: Data obtained indicate that BRCA1/BRCA2 gene testing may be considered for postmenopausal patients with BC who have a family history of cancer. Although some of them are not considered pathogenic, somatic variants of PIK3CA are frequently observed in BC patients, especially in postmenopausal patients

Health Economic Evaluations of Cancer in Brazil: A Systematic Review

Background: A large number of health economic evaluation (HEE) studies have been published in developed countries. However, Brazilian HEE literature in oncology has not been studied. Objective: To investigate whether the scientific literature has provided a set of HEE in oncology capable of supporting decision making in the Brazilian context.Methods: A systematic review was conducted to identify and characterize studies in this field. We searched multiple databases selecting partial and full HEE studies in oncology (1998-2013).Results: Fifty-five articles were reviewed, of these, 33 (60%) were full health economic evaluations. Type of cancers most frequently studied were: breast (38.2%), cervical (14.6%), lung (10.9%) and colorectal (9.1%). Procedures (47.3%) were the technologies most frequently evaluated. In terms of the intended purposes of the technologies, most (63.6%) were treatments. The majority of the incremental cost-effectiveness ratios (ICERs) reported have been below the cost-effectiveness threshold suggested by the World Health Organization (WHO).Conclusions: There has been an increase in the number of HEEs related to cancer in Brazil. These studies may support decision-making processes regarding the coverage of and reimbursement of healthcare technologies for cancer treatment in Brazil

Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil

Introduction The contribution of CDH1 germline variants to gastric cancer burden among young adults is unknown in Brazil. We aimed to evaluate the frequency of CDH1 germline variants and the diet/lifestyle habits in early age onset gastric cancer (EOGC, A, c.387G>T, c.1676G>A, and c.1806C>A. The MLPA results revealed no rearrangements and CDH1 transcription analysis for variants of interest were inconclusive. EOGC patients had a higher red (OR:2.6, 95%CI:1.4-4.9) and processed (OR:3.1, 95%CI:1.6-6.0) meat intake and higher fruit consumption (OR:0.4, 95%IC:0.3-0.7) compared to eating habits of the Brazilian population. Conclusions No unequivocal pathogenic germline CDH1 variants were identified in Brazilian EOGC patients. Dietary habits may be associated with the EOGC development