ABSTRACT
El síndrome de Turcot es un desorden genético caracterizado por la asociación de tumores primarios neuroepiteliales del sistema nervioso central y poliposis adenomatosa del colon. Se describen dos variedades. En el tipo I los tumores suelen ser glioblastomas y se asocian a un síndrome de Lynch o cáncer colorectal hereditario no polipósico. En el tipo II predominan los meduloblastomas y se asocian a poliposis múltiple familiar, ya sea la forma clásica o atenuada. El presente caso debutó a los 7 años de edad con un meduloblastoma que logró ser curado, pero 20 años después desarrolla un meningioma cerebral recidivante. A los 36 años presenta anemia por sangrado digestivo y se descubre a la colonoscopía una poliposis adenomatosa del colon, con displasia de alto grado. Hasta donde conocemos es el primer caso de síndrome de Turcot que se reporta en nuestro país.
Turcot syndrome is an association of primary neuroepithelial tumors of the central nervous system with adenomatous polyposis coli. It is a genetic disorder, with two forms; In type I, glioblastomas are usually associated with hereditary nonpolyposis colorectal cancer (HNPC or Lynch). In Type II, medulloblastomas are often associated with familial adenomatous polyposis coli (classical or attenuated). This patient had a medulloblastoma at seven years of age, then 20 years later developed a meningioma which recurred several times. At 36 years old he presented with anemia after digestive bleeding, and an adenomatous polyposis coli with high grade dysplasia was found at colonoscopy. As far as we know, this is the first case of Turcot syndrome described in our country.
ABSTRACT
La poliposis adenomatosa familiar (PAF) y su variante, el Síndrome de Turcot, son heredados de forma autosómica dominante por mutaciones en el gen APC (adenomatous polyposis coli). Ocurre en aproximadamente 1/10000 a 1/30000 nacidos vivos y representa menos del 1% del riesgo de cáncer colorrectal en Estados Unidos. El cáncer colorrectal debe ser considerado una consecuencia inevitable de la evolución natural de la PAF. Sin embargo, en casos familiares se puede promover una detección temprana. Presentamos tres casos de pacientes con PAF con transformación maligna dos de ellos hermanos, uno de los cuales desarrolló síndrome de Turcot y el tercer caso diagnosticado por antecedente en la madre de PAF además de ser estudiada por anemia en clínica de hematología.
Familial adenomatous polyposis (FAP) and its variant Turcot's syndrome are autosomal dominant diseases caused by mutations in the adenomatous polyposis coli (APC) gene. FAP occurs in approximately 1/10,000 to 1/30,000 live births, and accounts for less than 1 percent of the total colon cancer risk in the United States. Colorectal cancer should be considered an inevitable consequence of the natural history of FAP, but an early detection is possible in familial cases. We present three cases of FAP patients with malignant transformation including two brothers, one of whom developed Turcot syndrome and the third case diagnosed in screening for a history of PAF and mother with a history of anemia studied in hematology clinic.
ABSTRACT
Lynch syndrome was formerly known as Hereditary Nonpolyposis Colorectal Cancer. Currently, these two nomenclatures each have their unique definitions and are no longer used interchangeably. The history of hereditary nonpolyposis colorectal cancer was first recognized formally in the literature by Henry Lynch in 1967. With advances of molecular genetics, there has been a transformation from clinical phenotype to genotype diagnostics. This has led to the ability to diagnose affected patients before they manifest with cancer, and therefore allow preventative surveillance strategies. Genotype diagnostics has shown a difference in penetrance of different cancer risks dependent on the gene containing the mutation. Surgery is recommended as prevention for some cancers; for others they are reserved for once cancer is noted. Various surveillance strategies are recommended dependent on the relative risk of cancer and the ability to intervene with surgery to impact on survival. Risk reduction through aspirin has shown some recent promise, and continues to be studied. (AU)
A síndrome de Lynch era anteriormente conhecida como "câncer colorretal hereditário não polipose". Atualmente, essas duas nomenclaturas têm, cada uma, sua própria definição original e já não são empregadas de forma intercambiável. O histórico de câncer colorretal hereditário não polipose foi formalmente reconhecido pela primeira vez na literatura por Henry Lynch em 1967. Com os avanços da genética molecular, verificou-se uma mudança do fenótipo clínico para o diagnóstico genotípico. Esse fato levou à capacidade de diagnosticar pacientes afetados antes que o câncer se manifestasse, e, portanto, à utilização de estratégias preventivas de rastreamento. O diagnóstico genotípico mostrou a diferença na penetrância de diferentes riscos de câncer dependendo do gene que contem a mutação. A cirurgia é recomendada para a prevenção de alguns tipos de câncer; para outros, ela é reservada quando há o aparecimento da doença. Várias estratégias de rastreamento são recomendadas, dependendo do risco relativo de câncer, bem como a capacidade para intervir com a cirurgia objetivando um impacto na sobrevivência. A redução do risco através do uso de aspirina recentemente mostrou ser promissor e continua a ser estudada. (AU)