Neuroendocrine Tumors of the Gastrointestinal Tract: A Focused Review and Practical Approach for Gastroenterologists.

Neuroendocrine tumors (NETs) are rare tumors derived from the neuroendocrine cell system, and more commonly found in the gastrointestinal (GI) tract. Over the last decades, the incidence of GI-NETs has been steadily increasing, partly due to the expanding indications for endoscopy. Most patients with NETs are asymptomatic, and their NETs are noticed during screening examinations; thus, endoscopists are on the frontline of the diagnosis of GI-NETs. Since GI-NETs are less frequent than other malignancies, the natural history, diagnosis, and management of these tumors may not be fully understood. In this review, we aim to update the endoscopist on key clinical features and management of patients with gastric, duodenal, and rectal NETs.

Os tumores neuroendócrinos (TNE) são tumores raros derivados do sistema neuroendócrino e mais frequentemente encontrados no trato gastrointestinal. Nas últimas décadas, a incidência de TNEs gastrointestinais tem vindo a aumentar de forma consistente, em parte devido às crescentes indicações da endoscopia. De facto, a maioria dos doentes com TNEs são assintomáticos e a lesão é identificada durante procedimentos de rastreio. Os endoscopistas estão na linha de frente do diagnóstico destes tumores. Como os TNEs são menos frequentemente encontrados em comparação com outras neoplasias, a história natural, o diagnóstico e a abordagem terapèutica destes tumores podem não ser totalmente compreendidos. Nesta revisão, os autores têm como objetivo atualizar o endoscopista sobre as principais características clínicas e abordagem endoscópica de doentes com TNE gástricos, duodenais e rectais.

Liver Phenotypes of European Adults Heterozygous or Homozygous for Pi∗Z Variant of AAT (Pi∗MZ vs Pi∗ZZ genotype) and Noncarriers.

BACKGROUND & AIMS: Homozygosity for the Pi∗Z variant of the gene that encodes the alpha-1 antitrypsin peptide (AAT), called the Pi∗ZZ genotype, causes a liver and lung disease called alpha-1 antitrypsin deficiency. Heterozygosity (the Pi∗MZ genotype) is a risk factor for cirrhosis in individuals with liver disease. Up to 4% of Europeans have the Pi∗MZ genotype; we compared features of adults with and without Pi∗MZ genotype among persons without preexisting liver disease. METHODS: We analyzed data from the European Alpha-1 Liver Cohort, from 419 adults with the Pi∗MZ genotype, 309 adults with the Pi∗ZZ genotype, and 284 individuals without the variant (noncarriers). All underwent a comprehensive evaluation; liver stiffness measurements (LSMs) were made by transient elastography. Liver biopsies were analyzed to define histologic and biochemical features associated with the Pi∗Z variant. Levels of serum transaminases were retrieved from 444,642 participants, available in the United Kingdom biobank. RESULTS: In the UK biobank database, levels of serum transaminases were increased in subjects with the Pi∗MZ genotype compared with noncarriers. In the Alpha-1 Liver Cohort, adults with Pi∗MZ had lower levels of gamma-glutamyl transferase in serum and lower LSMs than adults with the Pi∗ZZ variant, but these were higher than in noncarriers. Ten percent of subjects with the Pi∗MZ genotype vs 4% of noncarriers had LSMs of 7.1 kPa or more (adjusted odds ratio, 4.8; 95% confidence interval, 2.0-11.8). Obesity and diabetes were the most important factors associated with LSMs ≥7.1 kPa in subjects with the Pi∗MZ genotype. AAT inclusions were detected in liver biopsies of 63% of subjects with the Pi∗MZ genotype, vs 97% of subjects with the Pi∗ZZ genotype, and increased with liver fibrosis stages. Subjects with the Pi∗MZ genotype did not have increased hepatic levels of AAT, whereas levels of insoluble AAT varied among individuals. CONCLUSIONS: Adults with the Pi∗MZ genotype have lower levels of serum transaminases, fewer AAT inclusions in liver, and lower liver stiffness than adults with the Pi∗ZZ genotype, but higher than adults without the Pi∗Z variant. These findings should help determine risk of subjects with the Pi∗MZ genotype and aid in counseling.

Hepatosplenic T-Cell Lymphoma: A Rare Complication of Monotherapy with Thiopurines in Crohn's Disease.

Hepatosplenic T-cell lymphoma (HSTCL) is an extremely rare and aggressive form of non-Hodgkin lymphoma associated with poor response to treatment and high mortality. There is an increased incidence among patients with inflammatory bowel disease, especially young male patients under 35 years old and on combination therapy (thiopurine and anti-TNF-α). We describe a case of HSTCL in a young male patient with stenosing ileal Crohn's disease on azathioprine monotherapy for 4.8 years admitted to our hospital with intra- abdominal sepsis. Despite chemotherapy, the patient eventually died 1 month after the diagnosis. Through a literature review, we identified 18 additional cases of HSTCL in Crohn's disease patients that had only been treated with thiopurine monotherapy. The authors intend to highlight the rarity of this diagnosis especially with azathioprine monotherapy and the diagnostic challenge in a case that presented with intra-abdominal sepsis.

O linfoma de células T hepatoesplénico é um tipo raro e agressivo de linfoma não Hodgkin associado a fraca reposta à terapêutica e elevada mortalidade. A sua incidência está aumentada em doentes com doença inflamatória intestinal, particularmente jovens com menos de 35 anos, do sexo masculino e em terapêutica combinada com tiopurinas e inibidores TNF-α. Apresentamos o caso de um linfoma T hepatoesplénico num homem jovem com doença de Crohn ileal estenosante sob monoterapia com azatioprina há 4,8 anos, admitido no nosso hospital num contexto de sépsis de ponto de partida intraabdominal. Apesar da quimioterapia o doente acabou por falecer 1 mês após o diagnóstico. Numa revisão da literatura, os autores identificaram 18 casos adicionais de linfoma T hepatosplénico em doentes com doença de Crohn tratados apenas com tiopurinas em monoterapia. Os autores pretendem destacar a raridade do diagnóstico, especialmente no contexto de azatioprina em monoterapia e o desafio diagnóstico num caso que se apresentou com sépsis intra-abdominal.

Esophageal and Gastroduodenal Hemorrhagic Necrosis: A Unique Finding in the Setting of Septic Shock and Vasopressor Use.

Esophageal and gastroduodenal necrosis are rare conditions with poor prognosis. We describe a case that was diagnosed with upper endoscopy in the setting of severe septic shock. To our knowledge, this is the first case in which esophageal and gastroduodenal necrosis occurred simultaneously in this setting. We discuss the pathophysiology, diagnostic approach, and treatment options of this rare entity.