Summary Here, we present a case of acute and lymphocytic gastritis related to therapy with pembrolizumab for metastatic melanoma. After an asymptomatic phase with moderate histological inflammation (observed at 9 months of immunotherapy), gastritis became symptomatic and severe on repeated biopsies (13 months after the beginning of pembrolizumab). Symptoms and histological lesions both improved with proton pump inhibitor and steroid therapy, as well as interruption of pembrozulimab. The interest of this case lays in the relative rarity of gastritis over small and large intestinal inflammatory lesions caused by immune checkpoint inhibitors as well as in the features of the inflammatory infiltrate, which may be purely lymphocytic (mainly T-cells, with a prevalence of CD8+ over CD4+ lymphocytes) or mixed lymphocytic and granulocytic, requiring the exclusion of other causes of disease. To our knowledge, only 7 cases of immune-related gastritis have been previously documented in the current literature, of which 4, included the current one, were exclusively associated with pembrozulimab therapy.

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Identified by the eponym “Edwards’ Syndrome,” trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology underlying the extra chromosome 18 is a nondisjunction error, mainly linked with the advanced maternal age. More frequent in female fetuses, the syndrome portends high mortality, reaching a rate of 80% of miscarriages or stillbirths. The three-step evaluation includes first trimester screening for fetal aneuploidy using a combination of maternal age, fetal nuchal translucency thickness, fetal heart rate and maternal serum free ß-hCG and PAPP-A; followed by the research for fragments of fetal DNA in maternal blood; and, finally, invasive techniques leave to the established diagnosis. Starting with the first trimester scan, selected ultrasound findings should be investigated to define not only the impact of the genetic problem on the fetus, but also to address the prenatal counselling. Previous series underline that T18 is not uniformly lethal. An active dialogue on the choices in the management of infants with T18 has emerged, sustained by the transition from the comfort care to the intervention attitude. Survival rates for individuals with supposedly fatal conditions have increased. In this novel scenario, an ad hoc counselling is pivotal. To support it, a comparative analysis by pictorial assays between ultrasound and autopsy findings could be beneficial. We provide an illustrative tool from a clinical case managed in early second trimester, with the purpose to strive a balanced approach in the hard choice faced by couples of fetuses with T18.