Sarcoma de Kaposi perianal. Presentación de un caso y revisión de la literatura / [Perianal Kaposi’s sarcoma. A case report and a review of the literature].

Kaposi’s sarcoma is the most common cancer in men who have sex with men with AIDS. The estimated prevalence in the United States is 25

in patients with positive serology for the human immunodeficiency virus (HIV). The commitment of the gastrointestinal tract is seen in 40

of patients with Kaposi’s sarcoma related to AIDS but lesions can occur anywhere in the body and evolve rapidly. We present a 33-year-old patient who kept sex with men, with epidemiological history of hepatitis B and syphilis, who consulted the service of Coloproctology for perianal ulcer. He was studied according to the protocols of sexually transmitted diseases, was diagnosed HIV and an excision biopsy of the lesion was performed. The diagnosis of perianal Kaposi’s sarcoma was reached. Kaposi’s sarcoma-HIV was staged, no other lesions were found and the patient started antiretrovirals with poor response to therapy. He evolved with rapid progression of the disease and died with the presumptive diagnosis of Fournier’s syndrome at three months after the excision biopsy. We conclude that perianal ulcers are a relatively common pathology in the office of Coloproctology and differential diagnosis are different according to the positivity for HIV or not and the patient’s sexual practices. We consider that is important to publish and spread these cases.

Genómica en el diagnóstico del cáncer colorrectal hereditario / Genetics in diagnosis of hereditary colorectal cancer

Introducción: El cáncer colorrectal (CCR) se presenta en el 3 - 5% como formas hereditarias. Existen 4 síndromes en donde se han descubierto mutaciones responsables, el síndrome de Lynch (SL), la Poliposis Adenotamosa Familiar (PAF), la Poliposis Juvenil (PJ) y el síndrome de Peutz-Jeghers (SPJ). Cada uno de ellos presenta una patente genética distinta, vías de carcinogénesis y comportamientos distintos. Los conocimientos actuales sobre las mismas son limitados y los abordajes diagnósticos controvertidos. Material y Métodos: Se ha realizado la búsqueda bibliográfica sobre las técnicas de biología molecular que permiten detectar las mutaciones en los síndromes de CCR hereditario, así como las guías y estrategias diagnósticas. Se presenta una breve reseña sobre conceptos básicos de genómica y técnicas de biología molecular y luego sus usos en la práctica clínica en estas 4 enfermedades. Resultados: Hemos encontrado que con el avance de las técnicas de biología molecular cada día es mayor el conocimiento con respecto a la base genética de estas enfermedades. Esto provoca un impacto tanto en el diagnóstico como en la terapéutica y seguimiento. Las guías actuales de manejo muestran consenso en gran cantidad de puntos aunque todavía queda campo por explorar. Conclusiones: Hacen falta futuros ensayos que nos permitan arribar a estrategias de manejo en cada subgrupo de pacientes seguramente basados en las distintas patentes genotípicas. Esto permitirá un manejo más personalizado en el futuro del cáncer colorrectal hereditario.

Introduction: 3 - 5% of colorectal cancer (CRC) occurs as hereditary forms. There are 4 syndromes in which mutations have been found responsible, the Lynch syndrome (LS), the Family Adenotamosa polyposis (FAP), Juvenile Polyposis (JP) and Peutz-Jeghers syndrome (PJS). Each one has a distinct genetic patent, different process of carcinogenesis and different behaviors. Current knowledge about them is limited and the diagnostic approaches are controversial. Material and methods: We performed literature searches on molecular biology techniques to detect mutations in hereditary CRC syndromes and diagnostic guidelines and strategies. A review of basic concepts of genomics and molecular biology techniques are presented and then their uses in clinical practice in these 4 diseases. Results: We have found that with the progress of molecular biology techniques is growing the knowledge about the genetic basis of these diseases. This causes an impact on both diagnosis and therapy and monitoring. Current guidelines show consensus in handling large amount of points but there is still room to explore. Conclusions: Future trials are needed to enable us to arrive at management strategies in each subgroup of patients likely based in different genotypic patents. This will allow a more personalized management in the future of hereditary colorectal cáncer.