Caracterización clínica y genética de las poliposis intestinales hereditarias / Clinics and genetic characteristics in hereditary colon polyposis

Se denomina pólipo intestinal a una lesión visible elevada o tumor que se proyecta desde la superficie epitelial al lumen visceral. En relación al número, presencia de antecedentes familiares, manifestaciones extraintestinales y estudios genéticos es que se constituyen diversas poliposis intestinales. Si bien, las poliposis intestinales se manifiestan en general en la edad adulta, existen manifestaciones que pueden hacer sospechar la presencia de un síndrome poliposico hereditario en la infancia. Además en una proporción considerable estas poliposis presentan manifestaciones extraintestinales, tanto benignas como tumores en otros órganos. Es por esto, que una alta tasa de sospecha, en particular frente a pacientes con antecedentes familiares, puede conducir a un diagnóstico y tratamiento oportuno, además de considerar a la familia como potenciales pacientes e ingresar al grupo familiar a un registro de tumores hereditarios. Diversas técnicas de biología molecular han permitido la identificación de las mutaciones que son heredadas en estas enfermedades, permitiendo realizar conductas preventivas al saber el riesgo de cada persona en una familia afectada. El objetivo de esta revisión, es caracterizar las distintas poliposis intestinales, en cuanto a sus manifestaciones clínicas, clasificaciones, estudio genético y enfrentamiento multidisciplinario.

Polyps are solid or tumoral elevated lesions that arise from the intestinal epithelium so that they become visible in the intestinal epithelium so that they become visible in the intestinal lumen. Information regarding familial history, number, extraintestinal manifestations and genetic studies of polyps, assemble different types of intestinal polyposis. Generally, clinical manifestations occur in adult patients, although in children there are several signs that should make the physician suspect a hereditary polyposis syndrome. In addition it is important to know extraintestinal manifestations which are mostly benign but tumors may be present in other organs too. Bearing in mind that high clínical suspicion of hereditary polyposis syndrome especially if familial history is present, provides early diagnosis and appropriate treatment for the patient and eventually for the family members that could be affected, entering that family in a registry of hereditary tumors. Molecular biology has created different techniques to identify the presence of hereditary mutations that are specific for intestinal polyposis. Acknowledgment of these mutations establishes risks groups allowing adequate prevention strategies. The objective of this revision is to characterize and different types of intestinal polyposis, according to clinical manifestations, classification, genetic study and multidisciplinary approach.

Poliposis serrata (antiguamente denominada poliposis hiperplásica). Presentación de un caso y revisión de la literatura / Serrated polyposis (previously named hyperplastic polyposis): case report and literature review

Antecedentes: la poliposis hiperplásica es una enfermedad esporádica, con bases genéticas poco conocidas, que se manifiesta usualmente alrededor de los 50 años de edad. Posee un riesgo aumentado para el cáncer colorrectal, el cual ha sido citado de hasta un 50 % en diferentes series de la literatura. En su patogénesis ha sido implicada la secuencia pólipo hiperplásico-adenoma serrato-cáncer colorrectal. Objetivo: presentar un caso clínico y realizar una revisión bibliográfica del tema, especialmente en relación con su pesquisa y manejo. Lugar de realización: Institución pública. Población: un paciente de 54 años de edad evaluado y tratado por cáncer de recto y poliposis hiperplásica. Método: presentación de un caso y análisis bibliográfico. Conclusiones: la poliposis hiperplásica es una enfermedad fenotípicamente heterogénica y los individuos afectados tienen riesgo aumentado para desarrollar un cáncer colorrectal.

Background: Hyperplastic polyposis is a sporadic disease, with little known genetic basis that usually present at around 50 years old. It has an increased risk of colorectal cancer up to 50%, according to different series of the literature. With regard to the pathogenesis a sequence of hyperplastic polyposis­serrated adenoma-colorectal cancer has been involved. Objective: To report on a case and to make a literature review on this subject, especially with relation to the screening and management. Place of application: Public Institution. Population: 54 years old patient evaluated and treated for rectal cancer and hyperplastic polyposis. Method: case report and literature review. Conclusions: hyperplastic polyposis is a phenotypicaly heterogeneous disease and affected individuals are at increased risk for colorectal cancer.

Juvenile polyposis syndrome / Síndrome de poliposis juvenil

Juvenile polyposis syndrome (JPS) is rare and is present when there are multiple juvenile polyps in the gastrointestinal tract, usually the colon. The importance of this condition is the association with the development of colorectal and upper gastrointestinal cancer at a young age. We report the case of a 21- year old male with a two-year history of intermittent rectal bleeding and anal protrusion. Colonoscopy revealed multiple pedunculated cherry red polyps mainly in the left colon. Histology confirmed juvenile polyps. Juvenile polyposis syndrome should be considered in young patients with colonic symptoms, especially rectal bleeding. It is important to distinguish between patients with JPS and patients with an isolated harmatomatous juvenile polyp.

El síndrome de poliposis juvenil (SPJ) es raro y se presenta en forma de pólipos juveniles múltiples en el tracto gastrointestinal, generalmente en el colon. La importancia de esta condición estriba en su asociación con el desarrollo del cáncer colorectal y el cáncer gastrointestinal superior en la edad juvenil. Reportamos el caso de un joven de 21 años con una historia de dos años de sangramiento rectal intermitente y protrusión anal. La colonoscopía reveló múltiples pólipos pedunculados de color rojocereza, principalmente en el colon izquierdo. La histología confirmó la presencia de pólipos juveniles. El síndrome del poliposis juvenil debe ser considerado en los pacientes jóvenes con síntomas colónicos, especialmente cundo hay sangramiento rectal. Es importante distinguir entre pacientes con SPJ y pacientes con un pólipo juvenil harmatomatoso aislado.

Síndrome de Peutz-Jeghers complicado: reporte de un caso / Intestinal obstruction in a patient with Peutz-Jeghers syndrome: report of one case

El Síndrome de Peutz-Jeghers (SPJ), es una patología poco frecuente, hereditaria, autosómica dominante, caracterizada por la pigmentación de la mucosa oral y de la piel plantar y palmar, junto a una poliposis gastrointestinal de tipo hamartomatoso. En su crecimiento dicho pólipos pueden llegar a complicarse y causar intususcepción, obstrucción y hemorragias intestinales. La mutación genética asociada a éste síndrome es en el cromosoma 19p, en el gen STK 11, y en la enzima LKB 1, que disminuye su función de supresión de tumores. Hay un aumento de la enzima Cox-2, pudiendo llegar a asociarse a una mayor incidencia de cáncer gastrointestinal y extraintestinal, por lo que es importante una pesquisa precoz de los pólipos. El objetivo de este trabajo, es reportar un caso de Íleo mecánico a nivel del yeyuno proximal como una complicación aguda de una poliposis de larga evolución por SPJ, que consultó en nuestro Servicio de Urgencia y que requirió de una laparotomía exploradora.

The Peutz-Jeghers syndrome (PJS) is an uncommon hereditary autosomal dominant disease, characterized by pigmentation of oral mucosa, plantar and palmar skin and gastrointestinal hamartomatous polyposis. When these polyps grow they can cause intussusceptions, intestinal obstruction and hemorrhages. We report a 38 years oíd male admitted for an intestinal obstruction. He had pigmentations of lips and palms of the hands. He was operated, finding a dilatation and thickening of thefirst 50 cm of jejunum. In the zone of obstruction, three intraluminal tumors of approximately 3.5 cm diameter were palpated. Similar tumors were palpated in transverse and descending colon. Approximately 20 cm of dilated proximal jejunum were excised. The pathology report informed the presence of hamartomatous polyps, confirming the diagnosis of Peutz-Jeghers syndrome.

Hereditary Colorectal Cancer / 대한소화기학회지

Hereditary syndromes cause approximately 5 to 15% of overall colorectal cancer (CRC) cases. Hereditary CRC is conventionally divided into two major categories: hereditary non-polyposis colorectal cancer (HNPCC) and those related to polyposis syndromes including familial adenomatous polyposis (FAP), Peutz-Jegher syndrome (PJS), and juvenile polyposis (JP). The screening for the cancer and methods of treatment applied to patients with hereditary CRC are quite different from those applied to the general population. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become the most important determining factor in clinical decisions. Germ-line mutation of the APC gene induces FAP, an autosomal dominant disorder, characterized by the development of hundreds to thousands of colonic adenomas. CRC appears in almost all affected individuals by the time they are 50 years of age. An affected individual should undergo colectomy by his/her late teens. Furthermore, according to the findings of genetic testing, at-risk family members also need endoscopic surveillance and surgery. Recently, a mutation on the MYH gene is increasingly being investigated in patients with multiple polyps, and autosomal recessive MYH polyposis is considered to be a new category of polyposis. More common than FAP, HNPCC is caused by germ-line mutations in DNA mismatch repair genes, mainly MLH1 and MSH2. Although there is no polyposis, polyps seem to be more villous and dysplastic and appear to grow rapidly into CRCs. The aggregate lifetime risk of CRC is about 80% for mutation carriers. The risk for other types of cancer, such as endometrial, ovarian, small bowel, and transitional cell cancer, is also increased. The Amsterdam criteria and Bethesda guidelines are the best-known tools for diagnosis and genetic testing, and colectomy followed by endoscopic follow-up is the standard treatment. PJS and JP are reported to be characterized by hamartomatous polyps throughout the GI tract and germ-line mutations in the STK11 gene (PJS) and the DPC4/BMPR1A gene (JP).