ABSTRACT
Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_PMS2 variants were less common, but they showed important presence in Brazil (15%) and Chile (10%), respectively. Important differences exist at identifying LS families in Latin American countries, where the spectrum of path_MLH1 and path_MSH2 variants are those most frequently identified. Our findings have an impact on the evaluation of the patients and their relatives at risk for LS, derived from the gene affected. Although the awareness of hereditary cancer and genetic testing has improved in the last decade, it is remains deficient, with 39%-80% of the families not being identified for LS among those who actually met both the clinical criteria for LS and showed MMR deficiency(AU)
Subject(s)
Humans , Colorectal Neoplasms , Bibliography, National , UruguayABSTRACT
Los tumores neuroendocrinos primaros del esófago son raros y difícilmente considerados dentro del diagnóstico diferencial de los tumores primarios del esófago. En este artículo describimos el caso de un paciente de 76 años portador de un tumor neuroendocrino de células grandes primario del esófago, el cual constituiría el segundo caso reportado a nivel mundial, así como una revisión de la literatura.
Primary neuroendocrine tumors of esophagus are rare and hardly included in the differential diagnoses to esophageal tumors. In this article we describe a 76-year-old man with a large cell neuroendocrine carcinoma primary of the esophagus; this would be the second case reported worldwide. A literature review is presented.
Subject(s)
Male , Humans , Aged , Carcinoma, Neuroendocrine , Cells , Esophageal NeoplasmsABSTRACT
Los tumores neuroendocrinos primarios del esófago son raros y difícilmente considerados dentro del diagnóstico diferencial de los tumores esofágicos. En este artículo describimos el caso de un paciente de 76 años portador de un tumor neuroendocrino de células grandes primario del esófago, el cual constituiría el segundo caso reportado a nivel mundial, así como una revisión de la literatura.
Primary neuroendocrine tumors of the esophagus are rare and hardly included in differential diagnoses of esophageal tumors. In this article we describe the case of a 76 years old man with a large cell neuroendocrine carcinoma primary of the oesophagus; this is the second case reported worldwide. A literature review is presented.
Subject(s)
Male , Humans , Aged , Carcinoma, Neuroendocrine , Carcinoma, Large Cell , Esophageal NeoplasmsABSTRACT
Caso de una paciente de 34 años diagnosticada de una entidad rara, Sarcoma Primario Hepático, que recibió tratamiento preoperatorio con quimioterapia en base a antraciclínicos, luego de la cual pudo tener una resección quirúrgica completa.
Case report about a 34 year old woman with a rare disease, primary sarcoma of the liver, who received preoperative treatment with anthracyclines, after which the patient had a complete surgical resection.
Subject(s)
Female , Humans , Adult , Liver , Liver Neoplasms , SarcomaABSTRACT
Linfoma de células NK blásticos (LNKB) es una neoplásia hematológica poco frecuente que fue recientemente propuesta por Nakamura en 1995 y Suzuki en 1997 que se caracteriza por tener características celulares blásticas con expresión de CD56 y negatividad para CD3 de superficie. Compromete ganglios linfáticos aunque tiene predilección por compromiso estramodal, especialmente la piel, tejidos blandos sangre periférica o médula ósea; raros casos se presentan en la cavidad nasal. No esta clara su predilección racial ni su etiología. En este artículo, presentamos un caso de LNKB en una paciente joven con compromiso dérmico masivo. ies