RESUMO
Few studies have investigated the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in patients with colorectal cancer (CRC), and these have shown marked geographic variations. The aim of this study was to estimate the frequency of HNPCC in a cohort of Uruguayan CRC patients. We included all patients operated consecutively for CRC in the Hospital Central de las Fuerzas Armadas (Uruguay) between 1987 and 2003. Cases were classified into three groups: (i) those fulfilling Amsterdam criteria; (ii) those not fulfilling Amsterdam criteria but considered as a population at increased risk of cancer; and (iii) sporadic CRC. Genetic analysis to detect point mutations in hMLH/hMSH2/hMSH6 genes was performed in group 1 patients. Cases not showing mutations were tested by multiplex ligation-dependent probe amplification. Among 461 patients, group 1 represented 2.6%, group 2 represented 5.6%, and sporadic cases 91.8%. hMLH1/hMSH2/hMSH6 mutations were found in 25% of cases classified as HNPCC (two in hMLH1 and one in hMSH2). No mutations were detected in hMSH6 gene. The proportion of CRC patients that fulfilled Amsterdam criteria agrees with other reports. However, the percentage of HNPCC cases with identified mutations (25%) may be lower than that reported from other populations. This may reflect, among other possible causes, a different genetic profile in the Uruguayan population.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas Adaptadoras de Transdução de Sinal , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Proteínas de Transporte , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Neoplasias Colorretais/cirurgia , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Proteínas de Ligação a DNA/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Mutação Puntual , Proteínas Proto-Oncogênicas/genética , Taxa de Sobrevida , Uruguai/epidemiologiaRESUMO
PURPOSE: We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how the hMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. METHODS: DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs. RESULTS: We counseled 19 members of this kindred, 13 of whom were positive for the hMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow-up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary. CONCLUSIONS: Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas Adaptadoras de Transdução de Sinal , Adulto , Idoso , Proteínas de Transporte , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Neoplasias Colorretais Hereditárias sem Polipose/cirurgia , Feminino , Triagem de Portadores Genéticos , Aconselhamento Genético , Testes Genéticos , Mutação em Linhagem Germinativa/genética , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteínas de Neoplasias/genética , Proteínas Nucleares , Linhagem , Taxa de Sobrevida , UruguaiRESUMO
Las pancreatitis agudas letales (P.A.L.) son anatomo-patologicamente necrotico-hemorragicas. Se acompanan de una mortalidad cercana al 100%. En un intento de obtener una terapeutica mas eficaz que disminuya la elevada mortalidad de estos pacientes, se analizan retrospectivamente las historias clinicas de 22 enfermos tratados por los autores
Assuntos
PancreatiteRESUMO
Se analizan retrospectivamente las historias clinicas de 22 pacientes portadores de pancreatitis agudas necrotico-hemorragicas (P.A.N.H.), del punto de vista clinico, anatomo -patologico y terapeutico. Se obtiene asi un criterio terapeutico que parece ser el mas efectivo en el tratamiento de las pancreatitis agudas letales (P.A.L.): el soporte multisistemico precoz, la nocion de sentido evolutivo de la enfermedad pancreatica y la conducta reseccionista temprana cuando la enfermedad esta localizada a la logia
Assuntos
PancreatiteRESUMO
Se presenta un caso del llamado absceso hepatico de origen amebiano. Se destacan los caracteres clinicos y paraclinicos mas elocuentes y el problema del diagnostico diferencial con el quiste hidatidico complicado. El tratamiento medico se realiza con emetina y metronidazol, senalando sus indicaciones, asi como el uso de otras drogas. Frente a la inminencia de complicacion, se lleva a cabo la puncion evacuadora percutanea, maniobra quirurgica que se demuestra como de gran valor para tratar de absceso en inminencia de ruptura, que llevo el caso presentado a la curacion. Se destaca el riesgo a que expone el drenaje a cielo abierto y las indicaciones a que queda limitado. Se expresa el valor con caracter evolutivo de los estudios gammagraficos