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1.
Ann Surg Oncol ; 2022 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-35320428

RESUMO

BACKGROUND: The expression of liver kinase B1 (LKB-1) has been associated with prognosis in squamous cell carcinoma of the oral cavity (SCCOC). This study aimed to define the prognostic role of LKB-1 expression for patients with SCCOC and the suitability of its integration into a multivariate prognostic model. METHODS: A retrospective cohort study of patients with SCCOC was conducted in a cancer center. Expression of LKB-1 was evaluated by immunohistochemistry, and multivariate analysis defined prognostic factors associated with recurrence, recurrence-free survival (RFS), and overall survival (OS). The logistic regression model was used to construct a predictive computer software program. RESULTS: Of the 201 patients in this study, 104 (51.7%) experienced recurrence of their disease. Lower expression of LKB-1, high-risk histopathology, and advanced tumor-node-metastasis (TNM) stages were independent factors via multivariate analysis associated with the increased recurrence risk, poor RFS, and poor OS. If lack of LKB-1 expression is considered the reference category, the factors independently associated with recurrence were low (odds ratio [OR], 0.157; 95% confidence interval [CI], 0.044-0.557), intermediate (OR, 0.073; 95% CI, 0.017-0.319), and intense (OR, 0.047; 95% CI, 0.007-0.304) expression of LKB-1. This model permitted construction of a computer software program capable of prediction with receiver operating characteristic analysis (area under the curve, 0.925) and led to the definition of five prognostic groups with a biologic gradient. CONCLUSION: These results suggest that LKB-1 expression in patients with SCCOC is of robust prognostic value and complements the TNM staging system. The proposed model requires external validation in prospective observational studies.

2.
Breast Cancer Res Treat ; 188(2): 489-500, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34132938

RESUMO

PURPOSE: Pregnancy-associated breast cancer (PABC) poses a clinical challenge and its prognosis remains controversial. During the pregnancy and postpartum periods, the breast undergoes biological events that may uniquely influence disease behavior and treatment response. This study aimed to assess if a PABC diagnosis influences survival compared to non-PABC. METHODS: A single-center record review was performed to identify PABC patients diagnosed from January 2007 through June 2018. Two controls were matched to each PABC case by stage, immunohistochemical (IHC) subtype, age (± 3) and year of diagnosis (± 2). Disease-free survival (DFS) and overall survival (OS) were estimated with the Kaplan-Meier method and compared with the log-rank test. Multivariate analysis was used to assess the impact of PABC on outcomes. RESULTS: 125 PABC patients (pregnant: 62; postpartum: 63) and 250 controls were included. Median follow-up was 67.7 and 73.4 months, respectively. 4-year DFS was 62% in pregnant vs 78% in controls (p = 0.010), and 63% in postpartum vs 83% in controls (p = 0.034). Subanalysis by IHC subtype revealed a significantly inferior DFS in PABC with hormone receptor-positive/HER2-negative (p = 0.032) and HER2-positive disease (p = 0.005) compared to corresponding non-PABC patients. 4-year OS was similar between case groups and controls. Multivariate analysis supported the independent impact of pregnant and postpartum status on DFS (p < 0.05). CONCLUSION: Patients diagnosed during pregnancy and early postpartum are at high risk of recurrence. Further research is warranted to better characterize PABC tumor biology and enable the identification of novel therapeutic interventions to improve treatment outcomes.


Assuntos
Neoplasias da Mama , Complicações Neoplásicas na Gravidez , Neoplasias da Mama/diagnóstico , Estudos de Casos e Controles , Feminino , Humanos , Recidiva Local de Neoplasia , Período Pós-Parto , Gravidez , Complicações Neoplásicas na Gravidez/diagnóstico , Prognóstico
3.
J Surg Oncol ; 116(6): 683-689, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28608393

RESUMO

BACKGROUND AND OBJECTIVES: The low availability and poor access to external beam radiotherapy (EBRT) in developing countries makes it hard for women with breast cancer to receive breast conservation. We studied the effect of providing intraoperative radiotherapy (IORT) on the travel time, distance, and costs of in the Mexico City Metropolitan Area (MCMA). METHODS: Sixty-nine patients treated between January 2013 and September 2014 were analyzed. Travel distance and transit time was calculated using Google Maps. The time and distance patients living in the MCMA treated with IORT would have spent if they had received EBRT was calculated. Cost analysis for each modality was performed. RESULTS: 71% (n = 49) lived in the MCMA. Sixteen (33%) received additional EBRT and 33 (66%) received IORT only. Mean driving distance and transit time of those 33 women was 132.6 km (SD 25.7) and 66 min (SD 32.9). Patients from the MCMA receiving IORT alone avoided 990 visits, 43 700 km and 65 400 min in transit. IORT led to a 12% reduction in costs per patient. CONCLUSIONS: By reducing costs and time needed for patients to receive radiotherapy, IORT could potentially enhance access to breast conservation in resource-limited developing countries.


Assuntos
Neoplasias da Mama/economia , Neoplasias da Mama/terapia , Acessibilidade aos Serviços de Saúde/economia , Viagem/economia , Neoplasias da Mama/radioterapia , Neoplasias da Mama/cirurgia , Terapia Combinada , Países em Desenvolvimento , Feminino , Custos de Cuidados de Saúde , Humanos , Cuidados Intraoperatórios/economia , Cuidados Intraoperatórios/métodos , México , Pessoa de Meia-Idade , Radioterapia/economia , Radioterapia/métodos , Fatores de Tempo
4.
Int J Mol Sci ; 18(6)2017 06 02.
Artigo em Inglês | MEDLINE | ID: mdl-28574440

RESUMO

Despite advances in diagnosis and new treatments such as targeted therapies, breast cancer (BC) is still the most prevalent tumor in women worldwide and the leading cause of death. The principal obstacle for successful BC treatment is the acquired or de novo resistance of the tumors to the systemic therapy (chemotherapy, endocrine, and targeted therapies) that patients receive. In the era of personalized treatment, several studies have focused on the search for biomarkers capable of predicting the response to this therapy; microRNAs (miRNAs) stand out among these markers due to their broad spectrum or potential clinical applications. miRNAs are conserved small non-coding RNAs that act as negative regulators of gene expression playing an important role in several cellular processes, such as cell proliferation, autophagy, genomic stability, and apoptosis. We reviewed recent data that describe the role of miRNAs as potential predictors of response to systemic treatments in BC. Furthermore, upon analyzing the collected published information, we noticed that the overexpression of miR-155, miR-222, miR-125b, and miR-21 predicts the resistance to the most common systemic treatments; nonetheless, the function of these particular miRNAs must be carefully studied and further analyses are still necessary to increase knowledge about their role and future potential clinical uses in BC.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/genética , MicroRNAs/genética , Animais , Antineoplásicos/farmacologia , Biomarcadores Tumorais/genética , Mama/efeitos dos fármacos , Mama/metabolismo , Mama/patologia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Feminino , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Humanos , Prognóstico
5.
Rev Med Chil ; 145(8): 1076-1082, 2017 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-29189868

RESUMO

Phyllodes tumors account for less than 1% of tumors of the mammary gland, have both epithelial and stromal components and are classified as benign, borderline and malignant. The malignant tumors are highly heterogeneous: they can differentiate to liposarcomas, fibrosarcomas, rhabdomyosarcomas, chondrosarcomas or osteosarcomas. The differentiation to osteosarcoma is extremely rare, constitutes 1.3% of cases and is very aggressive. The standard treatment of these tumors is surgical. The role of radiotherapy and chemotherapy is not clear. However, in patients in whom wide surgical margins are not achieved, adjuvant radiotherapy can be of help. We report a 63 years old female with a right breast osteosarcoma with an osteoclastic component, originating in a phyllodes tumor. The tumor was excised surgically and afterwards she was treated with 10 sessions of 50 Gy of radiotherapy in 25 fractions. She has remained free of disease for the last 10 months.


Assuntos
Neoplasias da Mama/patologia , Neoplasias Primárias Múltiplas/patologia , Osteossarcoma/patologia , Tumor Filoide/patologia , Biópsia , Neoplasias da Mama/radioterapia , Neoplasias da Mama/cirurgia , Feminino , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/radioterapia , Neoplasias Primárias Múltiplas/cirurgia , Osteossarcoma/radioterapia , Osteossarcoma/cirurgia , Tumor Filoide/radioterapia , Tumor Filoide/cirurgia , Resultado do Tratamento
6.
BMC Cancer ; 15: 75, 2015 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-25881163

RESUMO

BACKGROUND: Metaplastic carcinoma of the breast (MCB) is a rare histological type of breast cancer. This study aimed to determine whether MCB exhibits shorter overall survival (OS) and disease-free survival (DFS) compared with other histologies that are considered unfavorable. METHODS: We retrospectively analyzed 157 clinical file records of the Mexico City-based National Institute of Cancerology and compared the clinical characteristics and treatment of 24 patients with MCB, 37 patients with triple-negative invasive lobular carcinoma (TN-ILC), 48 patients with high-grade invasive ductal carcinoma (HG-IDC), and 48 patients with triple-negative invasive ductal carcinoma (TN-IDC), paired by clinical stage and age. We performed a comparative analysis and analyzed OS and DFS using a log-rank test. RESULTS: In patients with MCB, the 5-year DFS was 52.1% (mean, 48.52 months; 95%: 35.32-61.72), and the 5-year OS was 72.2% (mean, 59.77 months; 95% CI: 48.55-71.00). No differences were observed in the DFS of MCB compared with each of the other histologies (MCB vs. HG-IDC, p = 0.865; MCB vs. TN-IDC, p = 0.966, and MCB vs. TN-ILC, p = 0.132). Moreover, no differences were observed when comparing the OS of MCB with that of each of the other histologies (MCB vs. HG-IDC, p = 0.246; MCB vs. TN-IDC, p = 0.255, and MCB vs. TN-ILC, p = 0.387). CONCLUSIONS: Neither OS nor DFS differ between patients with MCB and those with other histologies with unfavorable immunohistochemical factors.


Assuntos
Neoplasias da Mama/patologia , Adulto , Idoso , Neoplasias da Mama/metabolismo , Neoplasias da Mama/mortalidade , Neoplasias da Mama/terapia , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Metaplasia , Pessoa de Meia-Idade , Mortalidade , Gradação de Tumores , Metástase Neoplásica , Recidiva Local de Neoplasia , Estadiamento de Neoplasias , Estudos Retrospectivos , Resultado do Tratamento
7.
Am J Hosp Palliat Care ; : 10499091231210290, 2023 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-37880855

RESUMO

BACKGROUND: Pain is often underreported and under-treated in older adults with dementia. The role of family caregivers (FCGs) in managing pain for their loved ones with dementia living in community has been significantly burdensome. Surprisingly, research has not delved into the experiences of FCGs' concerning pain management in this context. METHODS: A qualitative descriptive study was conducted to gain a deep understanding of FCGs' experiences in managing pain for their loved ones. Family caregivers participated in semi-structured face-to-face or telephone interviews. Inclusion criterion included being an adult providing care to community-dwelling older adults with dementia. Recruitment stopped upon reaching thematic saturation. Basic demographic characteristics was also collected. Constant comparison analytic method was employed. RESULTS: The study included 25 FCGs in central Virginia, spanning ages from 29 to 95. Participants were predominantly white, female, married, and had a minimum high school education. Most of them were adult children (52%) or the spouses (28%) of the care recipients. Four thematic categories emerged around exploring FCGs' pain management experiences: (1) Values; (2) Barriers; (3) Support; and (4) Adaptation. Each theme included sub-themes. CONCLUSION: Family caregivers follow their values to make decisions in pain management. Barriers existed for effective pain management. Adaptation and support from professional or formal caregivers greatly improved FCGs' perception of their competence in pain management. The finding underscores the need for further research and the development of interventions aimed at enhancing FCGs' perception of self-efficacy in this crucial aspect of caregiving.

8.
Mol Clin Oncol ; 18(1): 5, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36605097

RESUMO

Triple negative breast cancer (TNBC) is an aggressive type of cancer that accounts for ~23% of breast tumors in Mexico. In an attempt to understand in an improved way the behavior of TNBC, throughout the years, gene expression in these tumors has been studied. Lehman et al identified 6 subtypes of gene expression in TNBC with distinct characteristics. In the present study, it was aimed to assess clinical, pathological and prognostic characteristics of TNBC in a Mexican-based cohort. A total of 55 patients diagnosed with TNBC at Mexico's National Institute of Cancer (INCan) were included. Tumor needle biopsy samples were obtained and subjected to microarray analysis. Patients were thus classified into one of the 6 TNBC molecular subtypes. The prognostic, clinical and pathological information of patients was obtained, and differences across molecular subtypes were sought. Out of the 55 included patients, the following subtypes were identified: 9 basal-like-1, 11 basal-like-2 (BSL2), 16 immunomodulatory (IM), 12 mesenchymal, 6 androgen receptor-like and 1 mesenchymal stem-like. Mean follow-up time was 47.1 months. The IM molecular subtype had the best overall survival (OS) (median OS was not reached). BSL2 had the worst OS (15 months). A complete pathologic response to neoadjuvant chemotherapy was obtained more often in the IM subtype (P=0.032). No significant associations were found between any of the clinical or pathological characteristics and the TNBC molecular subtypes. The results obtained from the present study should be considered when seeking to implement a clinical-molecular model for TNBC patient care, particularly in Hispanic-based populations, as they have been frequently underrepresented in clinical studies assessing TNBC molecular subtypes.

9.
Front Oncol ; 13: 1146008, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37182128

RESUMO

Introduction: Metastatic breast cancer causes the most breast cancer-related deaths around the world, especially in countries where breast cancer is detected late into its development. Genetic testing for cancer susceptibility started with the BRCA 1 and 2 genes. Still, recent research has shown that variations in other members of the DNA damage response (DDR) are also associated with elevated cancer risk, opening new opportunities for enhanced genetic testing strategies. Methods: We sequenced BRCA1/2 and twelve other DDR genes from a Mexican-mestizo population of 40 metastatic breast cancer patients through semiconductor sequencing. Results: Overall, we found 22 variants -9 of them reported for the first time- and a strikingly high proportion of variations in ARID1A. The presence of at least one variant in the ARID1A, BRCA1, BRCA2, or FANCA genes was associated with worse progression-free survival and overall survival in our patient cohort. Discussion: Our results reflected the unique characteristics of the Mexican-mestizo population as the proportion of variants we found differed from that of other global populations. Based on these findings, we suggest routine screening for variants in ARID1A along with BRCA1/2 in breast cancer patients from the Mexican-mestizo population.

10.
12.
Arthritis Rheum ; 62(5): 1280-9, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20131287

RESUMO

OBJECTIVE: Disorganization of acinar cell apical microvilli and the presence of stromal collagen in the acinar lumen suggest that the labial salivary gland (LSG) barrier function is impaired in patients with Sjögren's syndrome. Tight junctions define cell polarity and regulate the paracellular flow of ions and water, crucial functions of acinar cells. This study was undertaken to evaluate the expression and localization of tight junction proteins in LSGs from patients with SS and to determine in vitro the effects of tumor necrosis factor alpha (TNFalpha) and interferon-gamma (IFNgamma) on tight junction integrity of isolated acini from control subjects. METHODS: Twenty-two patients and 15 controls were studied. The messenger RNA and protein levels of tight junction components (claudin-1, claudin-3, claudin-4, occludin, and ZO-1) were determined by semiquantitative reverse transcriptase-polymerase chain reaction and Western blotting. Tight junction protein localization was determined by immunohistochemistry. Tight junction ultrastructure was examined by transmission electron microscopy. Isolated acini from control subjects were treated with TNFalpha and IFNgamma. RESULTS: Significant differences in tight junction protein levels were detected in patients with SS. ZO-1 and occludin were strongly down-regulated, while claudin-1 and claudin-4 were overexpressed. Tight junction proteins localized exclusively to apical domains in acini and ducts of LSGs from controls. In SS patients, the ZO-1 and occludin the apical domain presence of decreased, while claudin-3 and claudin-4 was redistributed to the basolateral plasma membrane. Exposure of isolated control acini to TNFalpha and IFNgamma reproduced these alterations in vitro. Ultrastructural analysis associated tight junction disorganization with the presence of endocytic vesicles containing electron-dense material that may represent tight junction components. CONCLUSION: Our findings indicate that local cytokine production in LSGs from SS patients may contribute to the secretory gland dysfunction observed in SS patients by altering tight junction integrity of epithelial cells, thereby decreasing the quality and quantity of saliva.


Assuntos
Interferon gama/imunologia , Glândulas Salivares/imunologia , Síndrome de Sjogren/imunologia , Junções Íntimas/imunologia , Fator de Necrose Tumoral alfa/imunologia , Adulto , Idoso , Biópsia , Claudina-1 , Claudina-3 , Claudina-4 , Feminino , Imunofluorescência , Humanos , Interferon gama/farmacologia , Masculino , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Microscopia Eletrônica de Transmissão , Pessoa de Meia-Idade , Ocludina , Fosfoproteínas/genética , Fosfoproteínas/metabolismo , RNA Mensageiro/metabolismo , Glândulas Salivares/patologia , Síndrome de Sjogren/metabolismo , Síndrome de Sjogren/patologia , Junções Íntimas/patologia , Junções Íntimas/ultraestrutura , Fator de Necrose Tumoral alfa/farmacologia , Proteína da Zônula de Oclusão-1
13.
Patient Educ Couns ; 103(8): 1518-1530, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32201172

RESUMO

OBJECTIVE: To examine the characteristics of interventions to support family caregivers of patients with advanced cancer. METHODS: Five databases (CINAHL, Medline, PsycINFO, Web of Science, and the Cochrane Library) were searched for English language articles of intervention studies utilizing randomized controlled trials or quasi-experimental designs, reporting caregiver-related outcomes of interventions for family caregivers caring for patients with advanced cancer at home. RESULTS: A total of 11 studies met the inclusion criteria. Based on these studies, the types of interventions were categorized into psychosocial, educational, or both. The characteristics of interventions varied. Most interventions demonstrated statistically significant results of reducing psychological distress and caregiving burden and improving quality of life, self-efficacy, and competence for caregiving. However, there was inconsistency in the use of measures. CONCLUSIONS: Most studies showed positive effects of the interventions on caregiver-specific outcomes, yet direct comparisons of the effectiveness were limited. There is a lack of research aimed to support family caregivers' physical health. PRACTICE IMPLICATIONS: Given caregivers' needs to maintain their wellbeing and the positive effects of support for them, research examining long-term efficacy of interventions and measuring objective health outcomes with rigorous quality of studies is still needed for better outcomes for family caregivers of patients with advanced cancer.


Assuntos
Cuidadores/psicologia , Família/psicologia , Qualidade de Vida , Estresse Psicológico/prevenção & controle , Assistência Terminal/psicologia , Adaptação Psicológica , Humanos , Neoplasias/psicologia , Cuidados Paliativos , Apoio Social
14.
Front Oncol ; 10: 572958, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33542898

RESUMO

INTRODUCTION: In patients with unresectable Differentiated thyroid cancer (DTC), the use of external beam radiation therapy (EBRT), leads mostly to palliation. Our aim is to define the role of upfront EBRT, followed or not by salvage surgery, on Progression-free survival (PFS) or Overall survival (OS) in patients with DTC. METHODS: This is a cohort study of patients with initially unresectable DTC who received EBRT. Cohort A received EBRT followed by rescue surgery and cohort B, EBRT only. The Kaplan-Meier method and Cox model were employed for survival analysis. RESULTS: Thirty-three patients were included; 69.6% females and 30.3% males. Mean age was 60.6 and mean tumor diameter was 10.4 cm; 17 and 16 patients were included in cohorts A and B, respectively. Belonging to cohort A (Hazard ratio [HR] 0.177, 95% CI 0.05-0.7) and use of intensity modulated radiotherapy (HR 0.177, 95% CI 0.03-1.08) were associated to better PFS, while high-risk histopathology (HR 6.6, 95% CI 0.9-50) and EBRT dose (HR 1.05, 95% CI 1.01-1.08) were independently associated with lower PFS. Patients from cohort A (HR 0.061, 95% CI 0.01-0.3) had improved OS, while high-risk histopathology (HR 5.7, 95% CI 1.1-28.6) and EBRT dose (HR 1.05, 95% CI 1.01-1.09) were independently associated to worse OS. CONCLUSION: EBRT, and when feasible, salvage surgery, should be an integral part of the therapeutic strategy in initially unresectable DTC.

15.
J Hosp Palliat Nurs ; 21(4): E17-E23, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31166302

RESUMO

Building on the strong work of previous research agendas (2009-2012, 2012-2015, 2015-2018), the Hospice and Palliative Nurses Association Research Advisory Council developed the 2019-2022 Research Agenda in consultation with Hospice and Palliative Nurses Association (HPNA) membership and assessment of major trends in palliative nursing. The HPNA Research Advisory Council identified 5 priority areas and asked subject experts in each area to summarize the state of the science, identify critical gaps, and provide recommendations for future research. This document expands the executive summary published on the HPNA website (www.advancingexpertcare.org/hpna/) and provides supporting evidence for the 2019-2022 recommendations. The 5 priority areas are as follows: (1) pediatric hospice and palliative nursing research; (2) family caregiving; (3) interprofessional education and collaborative practice; (4) big data science, precision health, and nursing informatics; and (5) implementation science.


Assuntos
Congressos como Assunto , Guias como Assunto , Enfermagem de Cuidados Paliativos na Terminalidade da Vida/métodos , Educação Continuada em Enfermagem/métodos , Enfermagem de Cuidados Paliativos na Terminalidade da Vida/tendências , Humanos
16.
Artigo em Inglês | MEDLINE | ID: mdl-31736875

RESUMO

Background: Patients treated for intermediate- or high-risk differentiated thyroid carcinoma (DTC) and Thyroglobulin (TG) elevation during follow-up, require a diagnostic whole-body scan (DWBS) and if positive, 131I treatment. This approach can lead to a delay in treatment and increased costs. The purpose of this study is to compare the oncologic outcomes associated to administration of direct therapy with 131I at first biochemical recurrence. Methods: Retrospective cohort study of patients with intermediate- or high-risk DTC treated with total thyroidectomy, 131I ablation and who developed TG elevation during follow-up, between January 2007 and December 2015. Cohort A included patients who underwent a DWBS with 5 mCi of 131I, and if negative an MRI and/or 18FDG PET-CT prior to the therapeutic dosage, and cohort B included those who only received a therapeutic dosage of 131I, without a DWBS or extensive image studies. Main outcomes were second recurrence (SR) and disease-free survival (DFS). The diagnostic accuracy of DWBS was analyzed. Results: Cohorts A and B had 74 and 41 patients, each. By multivariate analysis, age, differentiation grade, TN classification, ablation dose, and performed DWBS (odds ratio 55.1; 95% CI 11.3-269) were associated with SR (p < 0.0001); age, male gender, ablation dose and performed DWBS (hazard ratio 7.79; 95% CI 3.67-16.5) were independent factors associated with DFS (p < 0.0001). DWBS diagnostic accuracy was 36.48%. Conclusion: 131I treatment in patients with DTC biochemical recurrence and no DWBS or extensive image studies is associated with a significantly lower frequency of SR and an increased DFS. The diagnostic accuracy of DWBS is low, and its clinical efficiency should be defined in prospective phase III studies.

17.
Cancers (Basel) ; 11(9)2019 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-31454914

RESUMO

The presence of germline and somatic deleterious mutations in the BRCA1 and BRCA2 genes has important clinical consequences for breast cancer (BC) patients. Analysis of the mutational status in BRCA genes is not yet common in public Latin American institutions; thus, our objective was to implement high-performance technology with highly reliable results with the possibility of analyzing several patients simultaneously, therefore reducing cost and work time. A prospective cohort of 252 unrelated sporadic breast cancer patients from the Mexican-mestizo population were analyzed using next generation sequencing (NGS) based on ion semiconductor sequencing. We found 28 pathogenic mutations (25 in BRCA1 and 13 in BRCA2), 11 of which had not been reported previously in Hispanic or Latin American populations. A total of 38 patients were positive for a pathogenic mutation representing 15% of our Mexican women cohort with breast cancer; 25 for BRCA1; and 13 for BRCA2. Our results revealed that there are mutations not analyzed by mutations panels, and our findings support the suitability of massive sequencing approaches in the public institutions of developing countries. Hence, BRCA screening should be offered to patients with breast cancer regardless of their family history of cancer in order to identify unaffected family carriers.

18.
Int J Mol Med ; 44(4): 1267-1280, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31364724

RESUMO

Metastatic breast cancer (MBC) is a challenge for oncologists, and public efforts should focus on identifying additional molecular markers and therapeutic management to improve clinical outcomes. Among all diagnosed cases of breast cancer (BC; approximately 10%) involve metastatic disease; notably, approximately 40% of patients with early­stage BC develop metastasis within 5 years. The management of MBC consists of systemic therapy. Despite different treatment options, the 5­year survival rate is <20%, which may be due to a lack of response with de novo or acquired resistance. MicroRNAs (miRNAs or miRs) are promising biomarkers as they are readily detectable and have a broad spectrum and potential clinical applications. The aim of this study was to identify a miRNA profile for distinguishing patients with MBC who respond to systemic treatment. Patients with MBC were treated according to the National Comprehensive Cancer Network guidelines. We performed miRNA­Seq on 9 primary tumors using the Thermo Fisher Scientific Ion S5 system. To obtain global miRNA profiles, we carried out differentially expressed gene elimination strategy (DEGES) analysis between the responsive and non­responsive patients. The results identified a profile of 12 miRNAs associated with the response to systemic treatment. The data were validated in an independent cohort (TCGA database). Based on the results, the upregulation of miR­342­3p and miR­187­3p was associated with the response to systemic treatment, and with an increased progression­free survival (PFS) and overall survival (OS); by contrast, the downregulation of miR­301a­3p was associated with a higher PFS and OS. On the whole, the findings of this study indicate that these miRNAs may serve as biomarkers for the response to systemic treatment or the prognosis of patients with MBC. However, these data should be validated experimentally in other robust cohorts and using different specimens before implementing these miRNAs as biomarkers in clinical practice to benefit this group of patients.


Assuntos
Neoplasias da Mama/genética , Neoplasias da Mama/patologia , MicroRNAs/genética , Transcriptoma , Adulto , Idoso , Biomarcadores Tumorais , Neoplasias da Mama/mortalidade , Neoplasias da Mama/terapia , Terapia Combinada , Feminino , Regulação Neoplásica da Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Pessoa de Meia-Idade , Metástase Neoplásica , Estadiamento de Neoplasias , Prognóstico , Reprodutibilidade dos Testes , Análise de Sobrevida , Resultado do Tratamento
19.
Am J Hosp Palliat Care ; 35(10): 1323-1329, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29724110

RESUMO

BACKGROUND: Older black and Latino Americans are more likely than white Americans to die in the hospital. Whether ethnic differences in expectation of death account for this disparity is unknown. OBJECTIVES: To determine whether surviving family members' expectation of death has a differential association with site of death according to race or ethnicity. METHODS: We conducted an analysis of decedents from the Health and Retirement Study, a nationally representative study of US older adults. Telephone surveys were conducted with family members for 5979 decedents (decedents were 55% were women, 85% white, 9% black, and 6% Latino). The outcome of interest was death in the hospital; the predictor variable was race/ethnicity, and the intervening variable was expectation of death. Covariates included sociodemographics (gender, age, household net worth, educational attainment level, religion) and health factors (chronic conditions, symptoms, health-care utilization). RESULTS: Decedents' race/ethnicity was statistically related to the expectation of death and death in the hospital. When death was not expected, whites and Latinos were more likely to die in the hospital than when death was expected (49% vs 29% for whites and 55% vs 37% for Latinos; P < .001). There was no difference in site of death according to family's expectation of death among blacks. CONCLUSION: Expectation of death did not fully account for site of death and played a greater role among whites and Latinos than among black Americans. Discussing prognosis by itself is unlikely to address ethnic disparities. Other factors appear to play an important role as well.


Assuntos
Atitude Frente a Morte , Doença Crônica/mortalidade , Doença Crônica/psicologia , Etnicidade/psicologia , Etnicidade/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Adulto , Negro ou Afro-Americano/psicologia , Negro ou Afro-Americano/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Feminino , Hispânico ou Latino/psicologia , Hispânico ou Latino/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Estados Unidos , População Branca/psicologia , População Branca/estatística & dados numéricos
20.
J Am Geriatr Soc ; 66(12): 2367-2371, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30347432

RESUMO

OBJECTIVES: To characterize the goals and approaches of clinicians with experience discussing long-term prognostic information with older adults. DESIGN: We used a semistructured interview guide containing 2 domains of perceived benefits and strategies to explore why and how clinicians choose to discuss long-term prognosis, defined as life expectancy on the scale of years, with patients. SETTING: Clinicians from home-based primary care practices, community-based clinics, and academic medical centers across San Francisco. PARTICIPANTS: Fourteen physicians, including 11 geriatricians and 1 geriatric nurse practitioner, with a mean age of 40 and a mean 9 years in practice. MEASUREMENTS: Clinician responses were analyzed qualitatively using the constant comparisons approach. RESULTS: Perceived benefits of discussing long-term prognosis included establishing realistic expectations for patients, encouraging conversations about future planning, and promoting shared decision-making through understanding of patient goals of care. Communication strategies included adapting discussions to individual patient preferences and engaging in multiple conversations over time. Clinicians preferred to communicate prognosis in words and with a visual aid, although most did not know of a suitable visual aid. CONCLUSION: Engaging in customized longitudinal discussions of long-term prognosis aids clinicians in anchoring conversations about future planning and preparing patients for the end of life. J Am Geriatr Soc 66:2367-2371, 2018.


Assuntos
Comunicação , Tomada de Decisões , Expectativa de Vida , Relações Médico-Paciente , Prognóstico , Centros Médicos Acadêmicos , Adulto , Idoso , Serviços de Saúde Comunitária , Humanos , Entrevistas como Assunto , Atenção Primária à Saúde , Pesquisa Qualitativa , São Francisco
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