Objective To investigate the imaging features of primary clear cell carcinoma of liver and to assess the role of CT and MRI in the diagnosis of the disease. Methods Nineteen cases of primary liver clear cell carcinoma of liver were collected. All cases were confirmed by operation and pathology. Both pre-contrast and post-contrast scans with spiral CT were performed in 13 cases. MRI with T1WI, T2WI, and dynamic multi-phase contrast scanning were performed in 8 cases. Imaging findings in all cases were retrospectively reviewed. Results On pre-contrast CT scans, all 13 lesions appeared as hypodensity and among them irregular more hypodense region was found in 9 cases. On the arterial phase, all cases showed obvious enhancement, among which 9 cases were enhanced heterogeneously with central non-enhanced area.On the portal venous phase, 11 lesions were hypodense compared with normal live parenchyma and 2 lesions were isodense. The rim enhancement of tumor capsule was demonstrated in 3 cases. On MR T1WI, 5 of 8 were hypointense and 3 were slightly hyperintense. On MR T2WI, 5 of 8 cases were heterogeneously hyperintense, and 3 were iso-hypointense. On the MR arterial phase, marked enhancement was found in all 8 cases. On the portal venous phase and delayed phase, 7 of 8 cases were hypointense and 1 was isointense.The rim enhancement of tumor capsule was found in 2 cases. Conclusion CT and MRI can display the characteristic features of primary clear cell carcinoma of liver and can be helpful to improve the diagnostic accuracy.

Objective:To explore the diagnostic value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in microcephaly.Methods:A total of 9 cases of microcephaly fetuses diagnosed by prenatal ultrasound or children with microcephaly diagnosed after birth were selected from the Sixth Affiliated Hospital of Guangzhou Medical University from January 2014 to August 2022.Karyotype analysis and/or CMA were used to detect. The cases with negative karyotype analysis and CMA results were further sequenced by trio-based WES (Trio-WES). Then the coding genes contained in the pathogenic copy number variation (CNV) fragments were analyzed by gene ontology (GO) enrichment. The genes related to the development of the central nervous system contained in the pathogenic CNV and the pathogenic genes found by Trio-WES were combined for gene interaction network analysis.Results:In this study, 9 cases of microcephaly were recruited, with the time of diagnosis ranged from 23 weeks of gestation to 7 years after birth, and the head circumference of fetus or children ranged from 18.3 to 42.5 cm (-7SD to -2SD). Karyotype analysis was detected in all 9 cases and no abnormality result was found. Eight cases were detected by CMA, and one abnormal was found. Five cases were detected by Trio-WES, and two cases were detected with likely pathogenic genes. The GO enrichment analysis of the coding gene in the 4p16.3 microdeletion (pathogenic CNV) region showed that: in biological process, it was mainly concentrated in phototransduction, visible light; in terms of molecular function, it was mainly concentrated in fibroblast growth factor binding; in terms of cell components, it was mainly concentrated in rough endoplasmic reticulum. Gene interaction network analysis suggested that CDC42 gene could interact with CTBP1, HTT and ASPM gene.Conclusions:CMA could be used as a first-line detection technique for microcephaly. When the results of chromosome karyotype analysis and/or CMA are negative, Trio-WES could improve the detection rate of pathogenicity of microcephaly.