Constitutional mismatch repair deficiency syndrome: Do we know it.

Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis‑1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature.

Síndrome de Lynch tipo II. Presentación de caso / Syndrome of Lynch type II. Case presentation

Fundamento: el cáncer colorrectal hereditario no ligado a la poliposis asociado a neoplasias extra intestinales se denomina S índrome de Lynch tipo 2 y su diagnóstico constituye un reto para el personal médico. Objetivo: propiciar mediante la presentación de un caso el pensamiento clínico y la actualización científica en esta entidad para efectuar un diagnóstico más oportuno. Presentación de caso: paciente de 49 años, ingresó por una masa palpable en fosa ilíaca izquierda e hipogastrio. Se realizó resección quirúrgica y se diagnosticó un cistadenocarcinoma mucinoso papilar de ovario para lo cual se le prescribió quimioterapia. Dos años más tarde se ingresó por dolor en hemiabdomen inferior, astenia, mareos y palidez cutáneo mucosa. Tras otra intervención quirúrgica se diagnosticó un adenocarcinoma de colon sigmoides. La paciente falleció posteriormente por un cuadro de sangramiento en sábana y fallo multiórganos. Conclusiones: b asado en los criterios de Ámsterdam y Bethesda se realizó el diagnóstico de un S índrome de Lynch tipo 2. P or la frecuencia de la variante hereditaria no polipósica dentro de los cánceres colorrectales se impone una valoración integral del paciente y un juicio clínico coherente para mejorar la certeza diagnóstica en un síndrome que no es infrecuente sino poco diagnosticado.

Background: hereditary colorectal cancer non-related to polyposis associated to extraintestinal neoplasias is called syndrome of Lynch type II and its diagnosis constitutes a challenge for medical staff. Objective: to make possible through a case presentation the clinical thought and the scientific up-dating in this entity to make a more accurate diagnosis. Case presentation: a forty -nine years old patient was admitted for a palpable mass on the left iliac fossa and hypogastrium. A surgical reception was carried out and a papillary mucinous cystadenocarcinoma of ovary was diagnosed for which chemotherapy was prescribed. Two years she was admitted for lower hemoabdomen pain, asthenia, dizziness and cutaneous mucosa paleness. After another surgery a sigmoid colon adenocarcinoma was diagnosed. Later the patient died due to a bleeding and multiorgan failure. Conclusions: based on the criteria of Amsterdam and Bethesda a diagnosis was made of a syndrome of Lynch type II. Due to the frequency of the non-polyposic hereditary variant of the colorectal cancers it is mandatory an integral evaluation of the patient and a coherent clinical judgment in order to improve the diagnostic certainty in a syndrome which is not infrequent but poorly diagnosed.