ABSTRACT
Colorectal cancer (CRC) incidence in Puerto Rico has increased prodigiously since incidence figures were first recorded in 1950. Implications for hereditary nonpolyposis colorectal cancer (HNPCC) in concert with this increased CRC incidence are discussed. A family with the Amsterdam-positive criteria of the Lynch syndrome II variant, identified in the eastern area of Puerto Rico, is described. As far as we can determine, this is the first such report of this disorder in Puerto Rico
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology , Adjuvants, Immunologic/administration & dosage , Adjuvants, Immunologic/therapeutic use , Antimetabolites, Antineoplastic/administration & dosage , Antimetabolites, Antineoplastic/therapeutic use , Drug Therapy, Combination , Follow-Up Studies , Fluorouracil/administration & dosage , Fluorouracil/therapeutic use , Incidence , Levamisole/administration & dosage , Levamisole/therapeutic use , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/drug therapy , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Colorectal Neoplasms/epidemiology , Pedigree , Puerto Rico/epidemiology , Time FactorsABSTRACT
Os autores relatam um caso de cancer do colon em uma doente com 17 anos de idade sem polipose ou historia familiar previa. Por tratar-se do primeiro caso desta familia, foi aventada a hipotese de um caso de HNPCC. A reacao da cadeia de polimerase (PCR) do tumor demonstrou alteracoes em quatro regioes polimorficas. A analise de duas destas regioes revelou a perda de material genetico evidenciando-se a presenca de instabilidade, sugerindo HNPCC. Submetida a ileo-retoanastomose e quimioterapia adjuvante com boa evolucao. Os autores discutem a importancia da historia familiar, do estudo genetico, da imuno-histoquimica e da instabilidade de microssatelites em pacientes jovens com cancer colorretal