Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 100
Filtrar
1.
Nat Commun ; 10(1): 431, 2019 01 25.
Artigo em Inglês | MEDLINE | ID: mdl-30683880

RESUMO

Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (rg = 0.57, p = 4.6 × 10-8), breast and ovarian cancer (rg = 0.24, p = 7 × 10-5), breast and lung cancer (rg = 0.18, p =1.5 × 10-6) and breast and colorectal cancer (rg = 0.15, p = 1.1 × 10-4). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.


Assuntos
Neoplasias da Mama/genética , Neoplasias Colorretais/genética , Neoplasias de Cabeça e Pescoço/genética , Padrões de Herança , Neoplasias Pulmonares/genética , Neoplasias Ovarianas/genética , Neoplasias da Próstata/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/etnologia , Neoplasias da Mama/patologia , Estudos de Casos e Controles , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/etnologia , Neoplasias Colorretais/patologia , Grupo com Ancestrais do Continente Europeu , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/etnologia , Neoplasias Pulmonares/patologia , Masculino , Transtornos Mentais/etnologia , Transtornos Mentais/genética , Transtornos Mentais/fisiopatologia , Proteínas de Neoplasias/genética , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/etnologia , Neoplasias Ovarianas/patologia , Fenótipo , Polimorfismo de Nucleotídeo Único , Neoplasias da Próstata/diagnóstico , Neoplasias da Próstata/etnologia , Neoplasias da Próstata/patologia , Fumar/etnologia , Fumar/genética , Fumar/fisiopatologia
2.
Dermatol Surg ; 45(5): 660-665, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30614839

RESUMO

BACKGROUND: Basal cell carcinoma (BCC) is an uncommon diagnosis in African Americans, and as a result, there is a limited amount of data available. OBJECTIVE: We sought to describe the clinical characteristics of BCC in African Americans treated with Mohs micrographic surgery (MMS). METHODS: We performed a retrospective case series in an ambulatory referral center at a single academic institution from 2007 to 2017 to characterize BCCs in African Americans treated with MMS. RESULTS: A total of 17 patients, who identified as black or African American, with 18 BCCs were included for analysis. Patients were predominantly female (82%) with a mean age at diagnosis of 61 years. Seventy-eight percent of tumors were located in the head and neck region with 50% of BCCs located in high-risk areas. The average preoperative and postoperative defect size was 1.78 and 5.90 cm, respectively, with a mean number of 2.2 Mohs stages required for tumor clearance. One patient had Gorlin syndrome. CONCLUSION: The presented retrospective review adds to limited available reported studies regarding BCC in African Americans to potentially aid in early recognition of these tumors.


Assuntos
Carcinoma Basocelular/etnologia , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias Cutâneas/etnologia , Afro-Americanos , Carcinoma Basocelular/cirurgia , Feminino , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Cirurgia de Mohs , Estudos Retrospectivos , Neoplasias Cutâneas/cirurgia , Resultado do Tratamento
3.
Eur Arch Otorhinolaryngol ; 275(2): 483-496, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29185028

RESUMO

AIM: To evaluate the possible relevance of the IL-18-137 G>C (rs187238), IL-18-607 C>A (rs1946518) and IL-4-590 C>T (rs2243250) polymorphisms to the genetic susceptibility of head and neck cancer. METHODS: Data were retrieved from PubMed, EMBASE, Web of Science and CNKI databases, and the results were independently analysed by two reviewers using Stata 14.0 software. RESULTS: After searching for and assessing the literature, a total of thirteen studies involving 2,959 patients newly diagnosed as head and neck cancer and 3,622 controls from healthy donors were analysed. The results suggested that a strong relationship between patients and healthy controls was observed in the IL-18-137 G>C polymorphism in consistence with the result (CC vs. GG + GC: OR = 1.63, P = 0.004; CC vs. GG: OR = 1.82, P = 0.001). When stratified by cancer type, ethnicity and the source of control samples, significant and elevated risks were obtained in the genetic susceptibility to Asian patients with NPC in all genetic models and in those studies using the PCR-RFLP test method. In addition, comparable results were obtained for the IL-18-607 C>A polymorphism, especially for Asian patients with NPC. CONCLUSIONS: It should be a potential association between IL-18 variants and nasopharyngeal carcinoma. Furthermore, IL-18 gene variants might be considered as a critical role in predicting the occurrence of nasopharyngeal carcinoma in Asian population. However, the IL-4-590 C>T polymorphism does not influence the development of head and neck cancer.


Assuntos
Biomarcadores Tumorais , Predisposição Genética para Doença/etnologia , Neoplasias de Cabeça e Pescoço/genética , Interleucina-18/genética , Interleucina-4/genética , Neoplasias Nasofaríngeas/genética , Polimorfismo de Nucleotídeo Único , Grupo com Ancestrais do Continente Asiático/genética , Neoplasias de Cabeça e Pescoço/etnologia , Humanos , Neoplasias Nasofaríngeas/etnologia , Risco
4.
Oral Oncol ; 73: 138-146, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28939066

RESUMO

OBJECTIVES: To assess efficacy and safety of nivolumab versus investigator's choice of therapy (IC) in Asian patients with platinum-refractory recurrent or metastatic squamous cell carcinoma of the head and neck (SCCHN). MATERIALS AND METHODS: Thirty-four patients from Japan, Taiwan, Hong Kong, and Korea received nivolumab 3mg/kg (n=23) every 2weeks or IC (n=11), as part of a global trial (n=361), until intolerable toxicity or disease progression. The primary endpoint was overall survival (OS). RESULTS: Median OS was 9.5months (95% confidence interval [CI] 9.1-NR) with nivolumab and 6.2months (95% CI 2.6-NR) with IC. Seven (30.4%) patients receiving nivolumab and six (54.5%) receiving IC died. The hazard ratio (HR) for risk of death (nivolumab vs. IC) was 0.50 (95% CI 0.17-1.48). Median progression-free survival was 1.9months (95% CI 1.6-7.5) with nivolumab and 1.8months (95% CI 0.4-6.1) with IC (HR 0.57 [95% CI 0.25-1.33]). Objective response rates (complete+partial responses) were 26.1% (6/23 patients; 95% CI 10.2-48.4) for nivolumab and 0% (0/11 patients; 95% CI 0.0-28.5) for IC. Sixteen (69.6%) nivolumab-treated patients and 10 (90.9%) patients receiving IC had a treatment-related adverse event, most commonly decreased appetite (21.7%), pruritus, rash, and fatigue (17.4% each) with nivolumab, and nausea, stomatitis, and decreased appetite (27.3% each) with IC. CONCLUSION: Nivolumab demonstrated a survival advantage compared with conventional treatments in Asian patients with platinum-refractory recurrent or metastatic SCCHN, and was well tolerated. Clinical trial registration NCT02105636.


Assuntos
Anticorpos Monoclonais/uso terapêutico , Antineoplásicos/uso terapêutico , Carcinoma de Células Escamosas/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Recidiva Local de Neoplasia , Ásia/etnologia , Carcinoma de Células Escamosas/etnologia , Neoplasias de Cabeça e Pescoço/etnologia , Humanos , Nivolumabe , Carcinoma de Células Escamosas de Cabeça e Pescoço
5.
Cancer Causes Control ; 28(11): 1227-1239, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28762075

RESUMO

Very little data exist on the incidence and burden of cancer in the individual Caribbean countries. Some data are available for larger areas, reported under a bigger geographical region; Latin America and the Caribbean, but many of the individual countries are not included. One of the main reasons is a lack of official cancer registries. Data are usually collected from hospital records or private physician records, and since it is not in an official registry, these data are not always accessible for inclusion in databases such as SEER and GLOBOCAN. Grenada is one of the countries that currently does not have a registry. Our aim is to report on the incidence for head and neck cancer with subcategories; hypopharynx, oropharynx, oral cavity, salivary glands, and larynx from data collected by the sole ear nose and throat specialist over a 20-year period. The age adjusted incidence per 100,000 for these cancers, whether combined or individually, is lower than that of similar populations. The incidence in males is only slightly higher than those reported in some parts of Africa. In females, only Eastern Africa is reported to have a lower incidence than that found in our study. While the incidence of oral cancers is lower than that of African Americans, the survival rate is comparable. Socioeconomic status, lack of infrastructure, and advanced stage at diagnosis appear to be closely related to the survival rate. Incidence reports suggest that incidence of head and neck cancers in individuals of African descent is lower than other populations. It is therefore not surprising that the incidence in Grenada is relatively low, although the incidence may be underestimated.


Assuntos
Neoplasias de Cabeça e Pescoço/epidemiologia , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano , Idoso , Idoso de 80 Anos ou mais , Feminino , Granada/epidemiologia , Granada/etnologia , Neoplasias de Cabeça e Pescoço/etnologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Classe Social , Taxa de Sobrevida , Estados Unidos
6.
Medicine (Baltimore) ; 96(25): e7298, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28640146

RESUMO

BACKGROUND: A number of studies had reported the association between tumor necrosis factor-alpha (TNF-α) gene polymorphisms and head and neck cancer (HNC) risk. However, the results remained controversial. Therefore, we performed a meta-analysis to derive a more precise evaluation of the association between TNF-α-308G/A polymorphism and overall HNC risk and evaluated influence of cancer types and ethnicities. METHODS: A systematic literature search was performed using Pubmed, Embase, Cochrane Library, and Web of science. In total, we identified 15 studies including 2005 cancer cases and 2876 controls to evaluate the association of TNF-α-308G/A polymorphism with risk for HNC. RESULTS: Overall, there was no significant association between TNF-α-308G/A polymorphism and the risk of HNC. Furthermore, subgroup analyses were performed according to the types of tumor and the ethnicities, we also found there was no significant association between TNF-α-308G/A polymorphism and the risk of NPC and OC, and European and Asian populations had no statistically significant difference in the relationship of TNF-α-308G/A polymorphism and HNC susceptibility. CONCLUSION: This meta-analysis indicates that the TNF-α-308G/A polymorphism is not associated with HNC risk. In the future, large and well-designed case-control studies are needed to validate our findings.


Assuntos
Predisposição Genética para Doença , Neoplasias de Cabeça e Pescoço/genética , Polimorfismo de Nucleotídeo Único , Fator de Necrose Tumoral alfa/genética , Neoplasias de Cabeça e Pescoço/etnologia , Humanos
7.
Laryngoscope ; 127(11): 2528-2533, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28397269

RESUMO

OBJECTIVES/HYPOTHESIS: To evaluate disparities in overall survival (OS) between Asian and non-Asian patients diagnosed with non-nasopharyngeal head and neck cancer (HNC). STUDY DESIGN: This was a population-based, retrospective study of patients diagnosed with non-nasopharyngeal HNC of squamous cell carcinoma histology between 2001 and 2010 in British Columbia, Canada. METHODS: Using Kaplan-Meier methods and Cox regression models, we examined the relationship between race and OS. RESULTS: A total of 3,036 patients were included in the study. Median age was 64 years, 74% were men, and 7% were Asians. Asians had worse Eastern Cooperative Oncology Group (ECOG) status (29% vs. 23%, P = .07) and larger tumors (33% vs. 21%, P = .02), and were more likely to be diagnosed with oral cavity cancers (38% vs. 25%, P < .001) than non-Asians. Asians were also less likely to receive multimodality therapy than non-Asians (90% vs. 95%, P = .02). Asians were more likely to have never smoked (49% vs. 15%, P < .001) and to be married or with a partner (80% vs. 69%, P = .02). Multivariate models showed that Asians had better OS than non-Asians (hazard ratio [HR] = 0.50, 95% confidence interval [CI] = 0.25-0.99, P = .05). Three-year OS did not differ significantly between Asians and non-Asians (41% vs. 42%, P = .18); however, 5-year OS did (22% vs. 19% P = .03). Stratifying by treatment type, outcomes were comparable in both groups except for radiotherapy alone, where Asians showed significantly better OS (HR = 0.71, 95% CI = 0.51-0.99, P = .04). Advanced age, worse ECOG, greater tumor size, and lack of treatment also correlated with inferior OS. CONCLUSIONS: Despite several worse prognostic features and less aggressive treatment, Asians tended to exhibit better OS than non-Asians. LEVEL OF EVIDENCE: 2c. Laryngoscope, 127:2528-2533, 2017.


Assuntos
Grupo com Ancestrais do Continente Asiático , Carcinoma de Células Escamosas/etnologia , Carcinoma de Células Escamosas/terapia , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/terapia , Carcinoma de Células Escamosas/mortalidade , Feminino , Neoplasias de Cabeça e Pescoço/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
8.
Laryngoscope ; 127(5): 1068-1072, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-28215050

RESUMO

OBJECTIVES/HYPOTHESIS: To demonstrate racial differences in preventable risk behaviors/practices that contribute to head and neck cancer (HNCA). STUDY DESIGN: Cross-sectional analysis of large national risk factor survey. METHODS: The Behavioral Risk Factor Surveillance System for 2013 was analyzed. Demographic data were extracted, including age, sex, and race. Social habits considered risk factors for HNCA were also extracted, including alcohol consumption, smoking, and human papillomavirus (HPV) vaccination status. Statistical comparisons were conducted according to race for each risk factor, and additional comparisons were conducted within the American Indian population subgroup for risk factors according to sex. RESULTS: A total of 238.6 million Americans were surveyed. American Indians reported higher rates of binge drinking (19.0%) than whites (17.3%), blacks (12.4%), and Asian Americans (13.1%; P < .001). This rate was significantly higher for American Indian males (23.5%) versus females (13.7%; P < .001). Mean total drinks per month was higher for whites and American Indians (13.5 and 13.5; P < .001). American Indians reported the highest rates of current smoking (28.1%), followed by blacks (20.1%), whites (18.3%), and Asians (10.2%; P < .001). American Indians also reported the highest rates of every day smoking (18.2%), versus whites (13.3%), blacks (13.1%), and Asians (6.1%; P < .001). Rates of HPV vaccination were lowest for American Indians (11.7%), compared to whites (14.6%), blacks (13.6%), and Asians (12%; P = 0.618). CONCLUSIONS: There are striking racial disparities in the prevalence of preventable risk factors for HNCA. These data highlight the need for targeted education and prevention programs in particular racial groups. LEVEL OF EVIDENCE: 4. Laryngoscope, 127:1068-1072, 2017.


Assuntos
Neoplasias de Cabeça e Pescoço/etnologia , Consumo de Bebidas Alcoólicas/epidemiologia , Consumo de Bebidas Alcoólicas/etnologia , Estudos Transversais , Feminino , Neoplasias de Cabeça e Pescoço/epidemiologia , Neoplasias de Cabeça e Pescoço/etiologia , Humanos , Incidência , Masculino , Prevalência , Fatores de Risco , Inquéritos e Questionários , Estados Unidos/epidemiologia
9.
Cancer ; 123(9): 1566-1575, 2017 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-28241096

RESUMO

BACKGROUND: Human papillomavirus (HPV) is a well-established prognostic marker for oropharyngeal squamous cell cancer (OPSCC). Because of the limited numbers of women and nonwhites in studies to date, sex and racial/ethnic differences in prognosis have not been well explored. In this study, survival differences were explored by the tumor HPV status among 1) patients with OPSCCs by sex and race and 2) patients with nonoropharyngeal (non-OP) head and neck squamous cell cancers (HNSCCs). METHODS: This retrospective, multi-institution study included OPSCCs and non-OP HNSCCs of the oral cavity, larynx, and nasopharynx diagnosed from 1995 to 2012. Race/ethnicity was categorized as white non-Hispanic, black non-Hispanic, Asian non-Hispanic, and Hispanic of any race. Tumors were centrally tested for p16 overexpression and the presence of HPV by HPV16 DNA and high-risk HPV E6/E7 messenger RNA in situ hybridization. Kaplan-Meier and Cox proportional hazards models were used to evaluate overall survival (OS). RESULTS: The study population included 239 patients with OPSCC and 621 patients with non-OP HNSCC with a median follow-up time of 3.5 years. After adjustments for the tumor HPV status, age, current tobacco use, and stage, the risk of death was lower for women versus men with OPSCC (adjusted hazard ratio, 0.55; P = .04). The results were similar with p16. In contrast, for non-OP HNSCCs, HPV positivity, p16 positivity, and sex were not associated with OS. CONCLUSIONS: For OPSCC, there are differences in survival by sex, even after the tumor HPV status has been taken into account. For non-OP HNSCC, the HPV status and the p16 status are not of prognostic significance. Cancer 2017;123:1566-1575. © 2017 American Cancer Society.


Assuntos
Carcinoma de Células Escamosas/mortalidade , Grupos Étnicos/estatística & dados numéricos , Neoplasias de Cabeça e Pescoço/mortalidade , Neoplasias Laríngeas/mortalidade , Neoplasias Bucais/mortalidade , Neoplasias Nasofaríngeas/mortalidade , Neoplasias Orofaríngeas/mortalidade , Infecções por Papillomavirus/epidemiologia , Afro-Americanos/estatística & dados numéricos , Americanos Asiáticos/estatística & dados numéricos , Carcinoma de Células Escamosas/etnologia , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/virologia , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , DNA Viral , Grupo com Ancestrais do Continente Europeu/estatística & dados numéricos , Feminino , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/virologia , Hispano-Americanos/estatística & dados numéricos , Papillomavirus Humano 16/genética , Papillomavirus Humano 16/metabolismo , Humanos , Neoplasias Laríngeas/etnologia , Neoplasias Laríngeas/patologia , Neoplasias Laríngeas/virologia , Masculino , Neoplasias Bucais/etnologia , Neoplasias Bucais/patologia , Neoplasias Bucais/virologia , Neoplasias Nasofaríngeas/etnologia , Neoplasias Nasofaríngeas/patologia , Neoplasias Nasofaríngeas/virologia , Estadiamento de Neoplasias , Proteínas Oncogênicas Virais/metabolismo , Neoplasias Orofaríngeas/etnologia , Neoplasias Orofaríngeas/patologia , Neoplasias Orofaríngeas/virologia , Proteínas E7 de Papillomavirus/metabolismo , Infecções por Papillomavirus/virologia , Prognóstico , Modelos de Riscos Proporcionais , Proteínas Repressoras/metabolismo , Estudos Retrospectivos , Fatores Sexuais , Carcinoma de Células Escamosas de Cabeça e Pescoço
11.
Oncotarget ; 7(52): 86730-86739, 2016 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-27893418

RESUMO

Human papillomavirus (HPV), especially HPV16 genotype, is associated with oropharyngeal squamous cell carcinoma (OPSCC). We aim to determine the prevalence and characterize the high-risk (HR)-HPV genotypes in head and neck SCC (HNSCC) in a South-East Asian multi-ethnic society in Singapore and examine its prognostic significance.159 HNSCC archival tissue samples were retrieved and tumour DNA was screened for 18 HR-HPV genotypes using a PCR-based assay (Qiagen, digene HPV genotyping RH test). P16 protein overexpression was identified using immunohistochemistry (IHC). Statistical correlation between clinical outcomes were performed between HPV-positive and negative HNSCC patients.Six HR-HPVs (HPV16, 18, 31, 45, 56, 68) were detected in 90.6% of HNSCC; and 79.9% had multiple HPV genotypes detected. HPV31 and HPV45 were the most prevalent (79.2% and 87.4%, respectively); and HPV16 was predominantly found in OPSCC (p < 0.001). HPV-DNA PCR assay yielded a high sensitivity (96%) but low specificity (11%) when compared to p16 immunohistochemistry as the reference standard.P16-positive HNSCC was predominantly observed in OPSCC (73.7%; p = 0.005); and p16-positive OPSCC exhibited improved overall survival compared to p16-negative OPSCC (p = 0.022). Similarly, smoking and alcohol consumption were poor prognostic factors of overall survival (p = 0.007; p = 0.01) in OPSCC patients.HR-HPVs were identified in 90.6% of HNSCC patients using the HPV-DNA PCR assay. This test had a poor specificity when compared to p16 IHC; making it an unreliable detection technique in selecting patients for radiation dose de-escalation treatment protocol. P16-positive tumor was predominantly found in the oropharynx these patients demonstrated better overall survival than those with p16-negative OPSCC.


Assuntos
Carcinoma de Células Escamosas/metabolismo , Inibidor p16 de Quinase Dependente de Ciclina/biossíntese , Neoplasias de Cabeça e Pescoço/metabolismo , Papillomaviridae/genética , Infecções por Papillomavirus/metabolismo , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Carcinoma de Células Escamosas/etnologia , Carcinoma de Células Escamosas/virologia , Estudos de Coortes , Feminino , Genótipo , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/virologia , Interações Hospedeiro-Patógeno , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Neoplasias Orofaríngeas/etnologia , Neoplasias Orofaríngeas/genética , Neoplasias Orofaríngeas/virologia , Infecções por Papillomavirus/etnologia , Infecções por Papillomavirus/virologia , Singapura , Adulto Jovem
12.
J Clin Endocrinol Metab ; 101(12): 4710-4718, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27700540

RESUMO

BACKGROUND: More than 40% of patients with paragangliomas (PGLs) harbor a germline mutation of the known PGL susceptibility genes, mainly in the SDHB or SDHD genes. OBJECTIVE: The objective of the study was to characterize the genetic background of the French Canadian (FC) patients with PGLs and provide new clinical and paraclinical insights on SDHC-related PGLs. METHODS: Genetic testing has been offered to FC patients affected with PGLs followed up at the adrenal genetics clinic at Centre hospitalier de l'Université de Montréal. After genetic counseling, 29 FC patients consented for PGL genetic testing. RESULTS: Thirteen of 29 patients (44.8%) carried a germline mutation. The same heterozygous nonsense mutation at codon 133 of exon 5 of the SDHC gene (c.397C>T, p.[Arg133Ter]) was found in nine patients, representing 69.2% of the patients having a germline mutation. Seventy percent of these patients had head and neck PGLs. Twenty percent had multiple and 30% had malignant PGLs. We traced back the ascending genealogy of 10 index cases (nine patients from our cohort and one patient referred to us) and found that this mutation was most probably introduced in Nouvelle France by a couple of French settlers who established themselves in the 17th century. CONCLUSIONS: We found that 31% of the PGLs in the French Canadian can be explained by the SDHC mutation (c.397C>T, p.[Arg133Ter]). The dominance of the SDHC mutation is unique to the FCs and is most likely due to a French founder effect. SDHC gene analysis should be prioritized in FC patients with PGL.


Assuntos
Neoplasias de Cabeça e Pescoço/genética , Proteínas de Membrana/genética , Paraganglioma/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Canadá/etnologia , Feminino , França/etnologia , Neoplasias de Cabeça e Pescoço/etnologia , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Paraganglioma/etnologia , Linhagem
13.
Cancer Epidemiol ; 45: 18-25, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27664388

RESUMO

PURPOSE: Patient race has been shown to predict for differences in outcomes and has been attributed to socioeconomic factors such as social support and access to healthcare. In head and neck cancer (HNC), a disease without recommended screening, we sought to investigate the association between race, treatment delays and outcome. METHODS: Records of 1802 patients with non-metastatic squamous cell HNC treated between 1998 and 2013 were retrospectively assessed from an institutional database. Patient demographics, tumor and treatment characteristics, and patient outcomes were abstracted from the chart. Differences between groups were assessed via logistic regression multivariate analysis (MVA). Outcomes including locoregional control (LRC) and overall survival (OS) were then estimated via Kaplan-Meier and Cox-regression MVA. RESULTS: Median follow up was 34 months. Patient races included white (n=1671, 93%), black (n=80, 4%), Asian (n=18, 1%), and other (n=33, 2%). On logistic regression MVA, Black patients were less likely to be married (39% vs. 63%; OR 0.5 95%CI 0.30-0.83, p=0.007) or be currently employed (43% vs. 61%; OR 0.44 95%CI 0.26-0.74, p=0.002) when compared to non-blacks. Black patients were also younger (54 vs. 59 years, p=0.001), more likely to present with advanced tumor stage (T4: 48% vs. 25%), and more often had >45days elapsed from diagnosis to treatment initiation (DTI) (61% vs. 49%, p=0.028). Delays in treatment, such as delayed diagnosis (advanced disease presentation) and delays in DTI>45days were also associated with marital and employment status. Black patients were associated with a lower 3-year LRC rate (65% vs. 81%, p<0.001) and OS rate (43% vs. 69%, p<0.001), compared to non-black patients. Patients with >45days DTI had a detriment in 3-year LRC (77% vs. 83%, p=0.002) and OS (66% vs. 69%, p=0.009). On Cox MVA, black race was independently prognostic for worse LRC (HR 1.62 95%CI 1.04-2.51, p=0.033) and OS (HR 1.55 95%CI 1.15-2.08, p=0.004) vs. non-blacks. CONCLUSION: Black race is independently prognostic for LRC and OS. Delays in HNC treatment, such as more advanced tumor stage presentation and delays in treatment initiation, may be attributed to socioeconomic factors such as employment status and social support. Efforts to accommodate these factors may expedite treatment, in hopes of improving the race related outcome disparity in HNC.


Assuntos
Neoplasias de Cabeça e Pescoço/terapia , Adulto , Grupo com Ancestrais do Continente Africano , Idoso , Idoso de 80 Anos ou mais , Grupo com Ancestrais do Continente Europeu , Feminino , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/mortalidade , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores Socioeconômicos
14.
Laryngoscope ; 126(12): 2718-2725, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27224024

RESUMO

OBJECTIVES/HYPOTHESIS: To identify sociodemographic, behavioral, and clinical factors associated with health-related quality of life (HRQOL) for head and neck cancer (HNC) patients over time. STUDY DESIGN: A population-based longitudinal cohort study. METHODS: Newly diagnosed HNC patients (N = 587) were administered the Functional Assessment of Cancer Therapy-Head and Neck questionnaire at baseline (median 3 months postdiagnosis) and two follow-up assessments (median 22 and 42 months). Linear mixed-effect models were used with backward variable selection to identify factors associated with HRQOL over time (P < .05). Adjusted means reported at 2 years postdiagnosis. RESULTS: African Americans reported better Functional Well-Being than whites (mean of 20.01 vs. 18.53) and fewer HNC symptoms over time. Older patients (75+ years) reported better HRQOL than younger patients (< 50 years). Current tobacco use compared to no tobacco use had worse Physical (20.20 vs. 21.50), Emotional (17.55 vs. 19.06), Social (21.28 vs. 22.88), and Functional (17.32 vs. 19.29) Well-Being and more HNC symptoms (21.50 vs. 23.71). Radiation therapy was associated with worse Physical and Functional Well-Being and more head and neck symptoms over time, but HRQOL was similar to those who were not irradiated by 2 to 4 years postdiagnosis. CONCLUSION: This study identified key factors for individuals at risk for poorer HRQOL that may help clinicians and caregivers find solutions to address these decrements. Smoking cessation programs can be encouraged for survivors who use tobacco. Psychological and social support and medications may help for dealing with emotional distress and dealing with the physical symptoms from treatment. LEVEL OF EVIDENCE: 4. Laryngoscope, 126:2718-2725, 2016.


Assuntos
Neoplasias de Cabeça e Pescoço , Nível de Saúde , Qualidade de Vida , Adulto , Afro-Americanos , Idoso , Grupo com Ancestrais do Continente Europeu , Feminino , Neoplasias de Cabeça e Pescoço/etnologia , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Fatores Socioeconômicos , Inquéritos e Questionários , Sobreviventes
15.
Ann Plast Surg ; 77 Suppl 1: S6-S11, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26808749

RESUMO

BACKGROUND: Malignant melanoma is a relatively common malignancy in the West, but has a significantly lower incidence in Asians. Stark contrast in clinicopathological characteristics and prognosis has been observed between the 2 populations, yet data are limited. Here, we evaluate 106 Asian patients from a tertiary referral center in Hong Kong during an 11-year period. The purpose of this study was to collectively review all types of melanomas to analyze the clinicopathological characteristics of this poorly understood condition in an Asian population. METHODS: A total of 106 patients diagnosed with malignant melanoma from 2002 to 2012 were retrospectively reviewed. Demographics, clinical presentations, pathological subtypes, treatments, and survival outcomes were evaluated. RESULTS: Cutaneous melanomas dominated with 46 (43.4%) cases, followed by mucosal (39.6%), ocular (9.4%), and melanomas of unknown primary (7.5%); 43.3% patients presented in stage I, 36.7% in stage II, 18.9% in stage III, and 1.1% in stage IV. Acral lentiginous melanoma was the commonest subtype of cutaneous melanomas (60.9%). When types of melanomas were reviewed collectively, the median overall survival, disease-specific survival, and recurrence-free survival were 37, 45, and 48 months, respectively. Cutaneous melanoma had the best median overall survival of 59 months, followed by ocular melanoma (58 months), mucosal melanoma (18 months), and melanoma of unknown primary (2 months). Similar patterns were observed for disease-specific survival and recurrence-free survival. CONCLUSIONS: Melanoma among Asians remains poorly understood. There is a clear distinction in the clinical patterns between Asians and whites and the difference is not solely accounted for by the lower incidence of cutaneous melanoma. Certain subtypes, such as mucosal melanoma and is acral lentiginous melanoma, seemed to have disproportionately high incidences. Further studies are warranted to elucidate these observations. The poor survival outcomes reflected the need for better awareness and understanding of the condition by both the general public and the physicians.


Assuntos
Grupo com Ancestrais do Continente Asiático , Melanoma/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias do Ânus/diagnóstico , Neoplasias do Ânus/etnologia , Neoplasias do Ânus/mortalidade , Neoplasias do Ânus/patologia , Criança , Neoplasias Oculares/diagnóstico , Neoplasias Oculares/etnologia , Neoplasias Oculares/mortalidade , Neoplasias Oculares/patologia , Feminino , Seguimentos , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/mortalidade , Neoplasias de Cabeça e Pescoço/patologia , Hong Kong/epidemiologia , Humanos , Masculino , Melanoma/etnologia , Melanoma/mortalidade , Melanoma/patologia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Neoplasias Retais/diagnóstico , Neoplasias Retais/etnologia , Neoplasias Retais/mortalidade , Neoplasias Retais/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/etnologia , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/patologia , Análise de Sobrevida , Centros de Atenção Terciária , Neoplasias Urogenitais/diagnóstico , Neoplasias Urogenitais/etnologia , Neoplasias Urogenitais/mortalidade , Neoplasias Urogenitais/patologia , Adulto Jovem
16.
Eur Arch Otorhinolaryngol ; 273(9): 2727-34, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26506999

RESUMO

Disease-specific quality of life (QOL) measures have enhanced the capacity of outcome measures to evaluate subtle changes and differences between groups. As many of the QOL measures have been developed in English, they require translation to ensure their usefulness in a multi-cultural and/or international society. Published guidelines provide formal methods to achieve cross-culturally comparable versions of a QOL tool. The aim of this study was to adapt the head and neck specific module of the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ-H&N 35 questionnaire) into Moroccan Arabic and to determine its psychometric properties. After translation, back translation and pretesting of the pre-final version, the translated version was submitted to a committee of professionals composed by otolaryngologists and epidemiologists. The psychometric properties were tested in patients with ENT cancer. Internal consistency was tested using Cronbach's alpha and the test-retest reliability using interclass correlation coefficients. Construct validity was assessed by examining item convergent and divergent validity. It was also tested using Spearman's correlation between QLQ-H&N 35 scales and EQ-5D. The study was conducted in 120 patients. The Moroccan version was internally reliable, Cronbach's α ranged from 0.71 for "trouble with social contact" to 0.94 for "senses impairment", indicating good internal consistency. Test-retest reliability was assessed using the intra-class correlation coefficient, which ranged from 0.64 for "speech trouble" to 0.89 for "physical activities". The instrument demonstrated a good construct and concomitant validity. We have developed a semantically equivalent translation with cultural adaptation of EORTC QLQ-H&N 35 questionnaire. The assessment of its measurement properties showed that it is quite reliable and a valid measure of the effect of cancer on the quality of life in Moroccan patients.


Assuntos
Árabes , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/psicologia , Qualidade de Vida , Adulto , Idoso , Comparação Transcultural , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários , Traduções
17.
Head Neck ; 38(4): 564-72, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25488341

RESUMO

BACKGROUND: Racial outcome disparities have been observed in head and neck squamous cell carcinoma (HNSCC) with diminished survival for black patients compared with white patients. METHODS: We retrospectively analyzed 1318 patients with primary HNSCC treated at the University of Maryland Greenebaum Cancer Center (UMGCC) from 2000 to 2010. RESULTS: Of all the patients, 65.9% were white, 30.7% were black, and 3.3% were of other races. Black patients were less likely to present with oral cavity cancer, and more likely to present with laryngeal or hypopharyngeal cancers. White patients were more likely to have early stage disease, especially in the oral cavity. Black race was independently associated with worse overall survival (OS) in the entire cohort. Black patients had a significantly worse OS among oral cavity and oropharyngeal cancers, with the largest disparity in oropharyngeal cancer. However, in multivariate analysis, race was only still significant in oropharyngeal cancer. CONCLUSION: We observed differences by race in distribution of disease site, stage, and OS. Survival disparity in the entire cohort was driven mostly by differences among oropharyngeal cancer.


Assuntos
Carcinoma de Células Escamosas/mortalidade , Neoplasias de Cabeça e Pescoço/mortalidade , Neoplasias Orofaríngeas/mortalidade , Adulto , Afro-Americanos , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/etnologia , Carcinoma de Células Escamosas/patologia , Grupos de Populações Continentais , Grupo com Ancestrais do Continente Europeu , Feminino , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/patologia , Disparidades nos Níveis de Saúde , Humanos , Masculino , Maryland , Pessoa de Meia-Idade , Neoplasias Orofaríngeas/etnologia , Neoplasias Orofaríngeas/patologia , Estudos Retrospectivos , Carcinoma de Células Escamosas de Cabeça e Pescoço , Taxa de Sobrevida , Adulto Jovem
18.
Head Neck ; 38(1): 126-34, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25227210

RESUMO

BACKGROUND: The purpose of this study was to evaluate how gross tumor volume (GTV) affects treatment outcome among different race/ethnic groups in patients with head and neck cancer receiving definitive radiotherapy (RT). METHODS: Ninety-one patients with head and neck cancer were treated to a median RT dose of 69.96 Gy in 33 fractions. The patient's self-reported race/ethnicity, primary tumor, and nodal GTV were obtained. Two-year actuarial local, nodal, and distant control, and overall and disease-free survival were calculated. RESULTS: The patients were categorized as white (n = 43) or non-white (n = 48), which included 29 African Americans, 11 Hispanics, 5 Asians, and 3 others. The mean primary GTV was 21.0 cc and 39.9 cc for whites and non-whites, respectively (p = .011). White patients reported improved overall survival of 85.4% compared to non-whites (65.8%; p = .006). Improvements in local and nodal control and disease-free survival rates were also observed. CONCLUSION: White patients demonstrated improved treatment outcomes compared with non-whites, which may be reflective of tumor volume.


Assuntos
Afro-Americanos/estatística & dados numéricos , Americanos Asiáticos/estatística & dados numéricos , Carcinoma de Células Escamosas/etnologia , Carcinoma de Células Escamosas/radioterapia , Grupo com Ancestrais do Continente Europeu/estatística & dados numéricos , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/radioterapia , Hispano-Americanos/estatística & dados numéricos , Idoso , Carcinoma de Células Escamosas/patologia , Intervalo Livre de Doença , Feminino , Seguimentos , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Dosagem Radioterapêutica , Radioterapia Conformacional/métodos , Estudos Retrospectivos , Carga Tumoral/efeitos da radiação , Estados Unidos/epidemiologia
19.
Eur J Cancer ; 51(18): 2759-67, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26602016

RESUMO

BACKGROUND: The presence of human papillomavirus (HPV) DNA in oropharyngeal squamous cell cancer (OPSCC) tissue appears to be a strong predictor of improved prognosis, but this observation has not been explored in a population-based sample with generalisable findings. METHODS: Follow-up data from a large sample of OPSCC patients identified through six population-based cancer registries in the United States of America (USA) were used to characterise the association of tumour HPV status with survival. RESULTS: HPV DNA was detected in tumour tissue from 71% (378 in 529) of the OPSCC patients. A total of 65% of patients with HPV16-associated tumours survived 5 years compared to 46% of patients with other HPV types and 28% of patients with HPV-negative tumours (p log-rank test <0.0001). The OPSCC patients with detectable HPV16 DNA had a 62% reduced hazard of death at 5 years, and patients with other HPV types had a 42% reduced hazard of death at 5 years compared to HPV-negative patients. Compared to non-Hispanic Whites, Blacks with OPSCC had a 2.6-fold greater risk of death at 5 years after adjustment for HPV status and other prognostic variables. Both surgery and radiation therapy were associated with a reduced 5-year risk of death, but no evidence was found for an interaction between HPV status and radiotherapy or surgery on survival time. CONCLUSIONS: Data from this US study suggest that HPV16-positive OPSCC patients survive longer than HPV-negative patients regardless of treatment, highlighting the prognostic importance of HPV status for this malignancy. Optimal treatment regimens for OPSCC could be tailored to each patient's HPV status and prognostic profile.


Assuntos
Carcinoma de Células Escamosas/virologia , DNA Viral/genética , Neoplasias de Cabeça e Pescoço/virologia , Neoplasias Orofaríngeas/virologia , Papillomaviridae/genética , Infecções por Papillomavirus/virologia , Idoso , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/etnologia , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/terapia , Grupos de Populações Continentais , Feminino , Genótipo , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/mortalidade , Neoplasias de Cabeça e Pescoço/terapia , Testes de DNA para Papilomavírus Humano , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Neoplasias Orofaríngeas/diagnóstico , Neoplasias Orofaríngeas/etnologia , Neoplasias Orofaríngeas/mortalidade , Neoplasias Orofaríngeas/terapia , Infecções por Papillomavirus/diagnóstico , Infecções por Papillomavirus/etnologia , Infecções por Papillomavirus/mortalidade , Modelos de Riscos Proporcionais , Fatores de Risco , Programa de SEER , Carcinoma de Células Escamosas de Cabeça e Pescoço , Fatores de Tempo , Resultado do Tratamento , Estados Unidos/epidemiologia
20.
Sci Rep ; 5: 17149, 2015 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-26612133

RESUMO

Molecular epidemiological research suggests that interleukin-10 (IL-10) polymorphisms may be associated with an increased risk of head and neck cancer (HNC), but results remain controversial. To derive a more precise evaluation, we performed a meta-analysis focused on genetic polymorphisms of IL-10. PubMed, Embase, CNKI and Wanfang databases were searched for studies that examined the relationship between IL-10 polymorphisms or haplotypes and HNC risk. The odds ratio (OR) and 95% confidence interval (CI) were applied to assess the relationship strength. Publication bias, sensitivity and cumulative analyses were conducted to measure the robustness of our findings. Overall, nine related studies involving 2,258 patients and 2,887 control samples were analyzed. Significant associations between the IL-10-1082A > G polymorphism and HNC risk were observed (G vs. A: OR = 1.56, 95% CI = 1.27-1.92, P < 0.01, I(2) = 69.4%; AG vs. AA: OR = 1.64, 95% CI = 1.32-2.05, P < 0.01, I(2) = 55.6%; GG vs. AA: OR = 2.24, 95% CI = 1.69-2.97, P < 0.01, I(2) = 38.5%; AG + GG vs. AA: OR = 1.70, 95% CI = 1.36-2.14, P = 0.02, I(2) = 61.8%; GG vs. AA + AG: OR = 1.89, 95% CI = 1.23-2.90, P = 0.01, I(2) = 46.3%) in the total population, as well as in subgroup analysis. Moreover, increased HNC risks were also associated with the IL-10 -819T > C polymorphism and the GCC haplotype. In conclusion, our meta-analyses suggest that IL-10 polymorphisms, specifically the -1082A > G polymorphism, may be associated with increased risk of HNC development.


Assuntos
Predisposição Genética para Doença , Haplótipos , Neoplasias de Cabeça e Pescoço/genética , Interleucina-10/genética , Polimorfismo de Nucleotídeo Único , Alelos , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , Grupo com Ancestrais do Continente Europeu , Expressão Gênica , Frequência do Gene , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/etnologia , Neoplasias de Cabeça e Pescoço/imunologia , Humanos , Interleucina-10/imunologia , Razão de Chances , Regiões Promotoras Genéticas
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA