Analysis of the histologic features in the differential diagnosis of intrahepatic neonatal cholestasis

AIM:To compare the histologic features of the liver in intrahepatic neonatal cholestasis(IHNC)with infectious,genetic-endocrine-metabolic,and idiopathic etiologies. METHODS:Liver biopsies from 86 infants with IHNC were evaluated.The inclusion criteria consisted of jaundice beginning at 3 mo of age and a hepatic biopsy during the 1st year of life.The following histologic features were evaluated:cholestasis,eosinophilia,giant cells,erythropoiesis,siderosis,portal fibrosis,and the presence of a septum. RESULTS:Based on the diagnosis,patients were classified into three groups:group 1(infectious;n=18),group 2(genetic-endocrine-metabolic;n=18),and group 3(idiopathic;n=50).There were no significant differences with respect to the following variables:cholestasis,eosinophilia,giant cells,siderosis,portalfibrosis,and presence of a septum.A significant difference was observed with respect to erythropoiesis,which was more severe in group 1(Fisher's exact test,P=0.016). CONCLUSION:A significant difference was observed in IHNC of infectious etiology,in which erythropoiesis was more severe than that in genetic-endocrine-metabolic and idiopathic etiologies,whereas there were no significant differences among cholestasis,eosinophilia,giant cells,siderosis,portal fibrosis,and the presence of a septum.

High‑Resolution and Multidimensional Phenotypes Can Complement Genomics Data to Diagnose Diseases in the Neonatal Population

Advances in genomic medicine have greatly improved our understanding of human diseases.However,phenome is not well understood.High-resolution and multidimensional phenotypes have shed light on the mechanisms underlying neonatal diseases in greater details and have the potential to optimize clinical strategies.In this review,we first highlight the value of analyzing traditional phenotypes using a data science approach in the neonatal population.We then discuss recent research on high-resolution,multidimensional,and structured phenotypes in neonatal critical diseases.Finally,we briefly introduce current technologies available for the analysis of multidimensional data and the value that can be provided by integrating these data into clinical practice.In summary,a time series of multidimensional phenome can improve our understanding of disease mechanisms and diagnostic decision-making,stratify patients,and provide clinicians with optimized strategies for therapeutic intervention;however,the available technologies for collecting multidimensional data and the best platform for connecting multiple modalities should be considered.

Intra-abdominal ectopic bronchogenic cyst with a mucinous neoplasm harboring a GNAS mutation: A case report

BACKGROUND Bronchogenic cysts are congenital cysts caused by abnormal sprouting from the ventral foregut during fetal life.They usually occur in the mediastinum or lung,but there are very rare cases of ectopic bronchogenic cysts that develop in the abdominal cavity.A unique intra-abdominal ectopic bronchogenic cyst with a mucinous neoplasm that was producing carcinoembryonic antigen(CEA),harboring a GNAS mutation,is reported.The present case may contribute to clarifying the mechanism of tumorigenesis and malignant transformation of ectopic bronchogenic cysts.CASE SUMMARY In 2007,a man in his 50s was incidentally found to have an intra-abdominal cystic mass,8 cm in diameter.Surgical resection was recommended,but he preferred to remain under observation.In 2020,his serum CEA level increased to 26.7 ng/mL,and abdominal computed tomography showed a 15 cm×12 cm,multifocal,cystic mass located predominantly on the lesser curvature of the stomach.Since malignancy could not be ruled out,he finally underwent surgical resection.Histologically,the cystic wall was lined by ciliated columnar epithelium,accompanied by bronchial gland-like tissue,bronchial cartilage,and smooth muscle.Part of the cyst consisted of atypical columnar epithelium with an MIB-1 index of 5%and positive for CEA.Moreover,a GNAS mutation(p.R201C)was detected in the atypical epithelium,leading to a diagnosis of an ectopic bronchogenic cyst with a low-grade mucinous neoplasm.The patient is currently undergoing outpatient follow-up without recurrence.CONCLUSION An extremely rare case of an abdominal bronchogenic cyst with a low-grade mucinous neoplasm harboring a GNAS mutation was reported.