RESUMO
Pathological assessment of colorectal cancer resection specimens is the most significant prognostic indicator. This includes determination of TNM stage, tumour type and grade, status of resection margins, extramural vascular and perineural invasion, and molecular features such as defects in the mismatch repair system. The pathological assessment contributes significantly to the quality control of surgery and preoperative staging. Reporting should be standardized by using DSPAC's registration scheme for colorectal carcinomas.
Assuntos
Neoplasias Colorretais/patologia , Procedimentos Cirúrgicos do Sistema Digestório/normas , Manejo de Espécimes/normas , Bancos de Espécimes Biológicos/normas , Neoplasias Colorretais/genética , Neoplasias Colorretais/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Endoscopia Gastrointestinal/métodos , Endoscopia Gastrointestinal/normas , Humanos , Técnicas de Diagnóstico Molecular , Estadiamento de Neoplasias/normas , Guias de Prática Clínica como Assunto , Prognóstico , Garantia da Qualidade dos Cuidados de Saúde , Controle de QualidadeRESUMO
Trichilemmal cysts (also named pilar cyst) derived from the outer root sheath of the deeper parts of the hair follicle can segregate dominantly, and are caused by a yet unknown gene. In order to identify candidate genes for this trait we have ascertained a Danish family with 38 persons (11 affected), and carried out a genome wide scan with 580 DNA micro-satellite markers to identify the locus for a gene, which we termed TRICY1 (for trichilemmal cysts). We found tight linkage to D3S1277 (Z = 4.63; theta(M = F) = 0.00), with flanking markers D3S2432 (Z = 1.59; theta(M = F) = 0.08), and D3S3685 (Z = 2.69; theta(M = F) = 0.08) spanning 10.3 Mb on chromosome 3p24-p21.2. We sequenced two candidate genes previously reported in inherited hair defects, CTNNB1 and MLH1 but failed to detect mutations in exons and intron-exon bounders.
Assuntos
Cromossomos Humanos Par 3/genética , Cisto Epidérmico/genética , Proteínas Adaptadoras de Transdução de Sinal , Proteínas de Transporte , Mapeamento Cromossômico , Proteínas do Citoesqueleto/genética , Análise Mutacional de DNA , Dinamarca , Cisto Epidérmico/patologia , Feminino , Ligação Genética , Predisposição Genética para Doença/genética , Humanos , Escore Lod , Masculino , Repetições de Microssatélites , Proteína 1 Homóloga a MutL , Proteínas de Neoplasias/genética , Proteínas Nucleares , Linhagem , Couro Cabeludo/patologia , Transativadores/genética , beta CateninaRESUMO
Small bowel carcinoid tumor (SBC) is a rare disease of unknown etiology but with an age-, sex-, and place-specific occurrence that may indicate an occupational origin. A European multicenter population-based case-control study was conducted from 1995 through 1997. Incident SBC cases between 35 and 69 years of age (n = 101) were identified, together with 3335 controls sampled from the catchment area of the cases. Histological review performed by a reference pathologist left 99 cases for study; 84 cases and 2070 population controls were interviewed. The industries most closely associated (a twofold or more odds ratio [OR]) with SBC, taking into account a 10-year time lag after exposure were, among women, employment in wholesale industry of food and beverages (OR, 8.2; 95% confidence interval [CI], 1.9 to 34.9]) and among men, manufacture of motor vehicle bodies (OR, 5.2; 95% CI, 1.2 to 22.4), footwear (OR, 3.9; 95% CI, 0.9 to 16.1), and metal structures (OR, 3.3; 95% CI, 1.0 to 10.4). The identified high-risk occupations with an OR above 2 were shoemakers, structural metal preparers, construction painters and other construction workers, bookkeepers, machine fitters, and welders (men). The OR for regular occupational use of organic solvents for at least half a year was 2.0 (95% CI, 1.0 to 4.2). Exposure to rust-preventive paint containing lead was suggested as another potential occupational exposure (OR, 9.1; 95% CI, 0.8 to 107). This explorative study suggests an association between certain occupational exposures and SBC, but some of these associations could be attributable to chance. All findings should be regarded as tentative.
Assuntos
Tumor Carcinoide/etiologia , Neoplasias Intestinais/etiologia , Intestino Delgado , Doenças Profissionais/etiologia , Exposição Ocupacional/efeitos adversos , Adulto , Tumor Carcinoide/epidemiologia , Estudos de Casos e Controles , Europa (Continente) , Feminino , Humanos , Neoplasias Intestinais/epidemiologia , Masculino , Pessoa de Meia-Idade , Doenças Profissionais/epidemiologia , Razão de Chances , Fatores de RiscoRESUMO
OBJECTIVE: Little is known about the etiology of small bowel carcinoid tumor (SBC), but a few studies have pointed to certain medical and lifestyle factors as potential risk factors. This study aims to evaluate these findings and to identify new associations. METHODS: A population-based European multicenter case-control study was conducted from 1995 through 1997. Incident histologically verified 35-69 year-old SBC cases (n = 99) and 3335 controls were recruited; 84 cases and 2070 controls were interviewed. RESULTS: Ever being a smoker was associated with SBC (odds ratio = 1.9; 95% confidence interval 1.1-3.2) and increased risk estimates were seen for all smoking categories. SBC was associated with previous gallstone disease and ovariectomy, but only when these conditions occurred within two years prior to the SBC diagnosis. No association was seen for a history of cholecystitis, liver cirrhosis, ulcerative disease, or Crohn's disease. Intake of alcoholic beverages--as well as medical treatments with radioactive substances, hormones, or corticosteroid tablets--were not associated with SBC. CONCLUSIONS: This study indicates that tobacco smoking is a risk factor for SBC. The associations with gallstone and ovarian diseases may be due to enhanced medical surveillance during the early phase of the cancer disease.
