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https://www.selleckchem.com/products/mk-8617.html GATA6 pathogenic variants primarily manifest a phenotype with pancreatic agenesis and cardiac malformations. However, additional congenital malformations affecting the biliary system, congenital diaphragmatic hernia and developmental delay have been reported. We report a newborn, prenatally diagnosed with truncus arteriosus and intrauterine growth restriction, who was postnatally found to have pancreatic agenesis associated with neonatal diabetes and hepatobiliary abnormalities. Whole exome sequencing identified a de novo, heterozygous mutation in the GATA6 gene (c.1366C>T; p.Arg456Cys). Further investigations revealed abnormalities not previously associated with GATA6 mutation, including unilateral thyroid lobe agenesis associated with congenital hypothyroidism, absent gall bladder, possible adrenal insufficiency, thrombocytopenia, and neonatal stroke. © 2020 Wiley Periodicals, Inc.BACKGROUND Liver metastases are rare in children with Wilms tumor (WT), and their impact on the outcome is unclear. PATIENTS AND METHODS The French cohort of patients with WT presenting liver metastases at diagnosis and enrolled in the International Society of Pediatric Oncology (SIOP) 2001 study was reviewed. RESULTS From 2002 to 2012, 906 French patients were enrolled in the SIOP2001 trial. Among them, 131 (14%) presented with stage IV WT and 18 (1.9%) had liver metastases at diagnosis. Isolated liver metastases were displayed in four of them. After preoperative chemotherapy, persistent liver disease was reported in 14/18 patients, and 13 of them underwent metastasectomy after nephrectomy. In resected liver lesions, the same histology of the primary tumor was reported for three patients, blastemal cells without anaplasia were identified in one patient with DA-WT, and post-chemotherapy necrosis/fibrosis was identified for the other 10 patients. For the four patients who had liver and lung surgery, both sites had nonviable cells with post

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