A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries.

We aimed to assess the current genetics practice to manage patients with Lynch syndrome (LS) across Latin America. A Latin American LS survey was sent out to 52 centres/registries, comprising a total of 12 countries from the region. Overall, 33 centres completed the survey, of which the oldest LS registry was established in 1992 in Sao Paulo (Brazil), and the youngest this year in San Jose (Costa Rica). In total, 87% (26/30) of the participating centres/registries belonging to the nine countries are performing genetic testing. Overall, 1352 suspected families were sequenced. Pathogenic variants were identified in 34% of the families, with slightly differing distribution of variants between females and males. Path_MLH1 variants were identified in 39% of females and 50% of males (p = 0.023), while path_MSH2 were identified in 37% of females and males, followed by path_PMS2 in 11% of females and 8% of males, path_MSH6 in 13% of females and 3% of males (p < 0.001) and path_EPCAM in 0.3% of females and 2% of males. In Latin America, 9 of 12 (75%) participating countries had implemented healthcare for LS. LS screening is inconsistently applied within Latin America healthcare systems because of structural differences in the healthcare systems between the countries.

Cancer immunotherapy-associated hypophysitis.

The advances in cancer therapy have included the development of drugs that inhibit immune checkpoint ligands. Two types of immune checkpoint inhibitors, both antibodies that target CTLA-4 and PD-1, have been approved for its use in NSCLC and melanoma as first-line or second-line therapy. Sadly, not desirable consequences of immunotherapy are immune-related adverse events. immune-related hypophysitis is the most common endocrine adverse event after thyroid disfunction. The particularity of endocrine immune-related adverse events is their non-reversibility, with incidence and prevalence destined to increase in the coming years, particularly if this form of therapy is used in the future for earlier stages of cancer. Therefore, hypophysitis represents a challenge for the physician, sometimes occurring without specific symptomatology and which should be considered for clinical management. In this review, we describe the current data regarding the pathophysiology and management for immune-related hypophysitis.

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America.

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.

Helicobacter pylori como patogeno emergente en el ser humano / Helicobacter pylori as an emerging pathogen in the human being

Resumen Desde el descubrimiento de Helicobacter pylori como agente infeccioso patógeno en el ser humano se ha ligado con diferentes enfermedades gástricas en el ser humano (úlcera péptica, adenocarcinoma gástrico y linfoma MALT). En los últimos años se ha encontrado además su potencial relación etiológica con enfermedades extradigestivas, tales como la anemia por deficiencia de hierro y la púrpura trombocitopénica inmune. El entendimiento de los mecanismos de defensa del huésped así como los factores de virulencia y patogenicidad de la bacteria ha permitido establecer indicaciones en las que la erradicación mediante antibióticos brinda un beneficio clínico, principalmente para las enfermedades gástricas. Recientemente ha aparecido creciente evidencia del beneficio de esta terapia en otras condiciones digestivas y no digestivas e incluso se ha demostrado un potencial impacto con la estrategia de tamizaje y erradicación poblacional de la bacteria para enfermedades de alta morbimortalidad como el cáncer gástrico. El aumento de la utilización de terapia antimicrobiana ha ido de la mano de la emergencia de la resistencia a los antibióticos empleados, lo cual acarrea un problema de salud pública. Esta revisión temática pretende actualizar los conceptos biológicos y clínicos de la infección y demostrar que esta infección aun debe considerarse como emergente.

Abstract Since the discovery of Helicobacter pylori as a pathogenic infectious agent in humans, it has been linked to different gastric diseases in humans (peptic ulcer, gastric adenocarcinoma and MALT lymphoma). In recent years, its potential etiological relationship with extradigestive diseases has also been found, such as iron deficiency anemia and immune thrombocytopenic purpura. The understanding of the host defense mechanisms as well as the virulence and pathogenicity factors of the bacteria has allowed us to establish indications in which antibiotic eradication provides a clinical benefit, mainly for gastric diseases. Recently there has been growing evidence of the benefit of this therapy in other digestive and non-digestive conditions and has even shown a potential impact with the population's screening and eradication strategy of the bacteria for diseases of high morbidity and mortality such as gastric cancer. The increase in the use of antimicrobial therapy has gone hand in hand with the emergence of resistance to the antibiotics used, which leads to a public health problem. This thematic review aims to update the biological and clinical concepts of the infection and demonstrate that this infection should still be considered as emerging.