Effect of stability of PTEN on hepatocellular carcinoma.

BACKGROUND: As an antioncogene gene, phosphataseandtensinhomolog (PTEN) is closely related to tumorigenesis. However, after mutation, PTEN will lose its function and no longer exert a tumor suppression effect. Through this research, we explored the impact of PTEN mutation on hepatic carcinoma (HCC) and the mechanism of PTEN for regulating HCC. METHODS: First, bioinformatics was used to analyze the prognosis of PTEN in HCC. PTEN-related genes were then further analyzed by the LinkedOmics database, and GO and KEGG functional enrichment analysis were performed. Next, databases were utilized to predict the mutation and mutation frequency of PTEN. Eventually, CRISPR-Cas12a was applied to detect the R130Q mutation on PTEN in clinical samples of HCC. Finally, the fact that miR-92a-3p targets PTEN was identified by dual luciferase reporter gene assays, RT-qPCR, western blot, and rescue experiments. RESULTS: Bioinformatics analysis indicated the high mutation frequency of R130Q/G/L* site on the PTEN gene. Through CRISPR-Cas12a, R130Q mutation was detected on PTEN in 26 out of 40 clinical samples of HCC. CONCLUSIONS: On the one hand, our study revealed that CRISPR-Cas12a might play an important role in the screening and prognosis of HCC as a new clinical method to detect PTEN mutation.

Identification of Gene Coexpression Modules and Prognostic Genes Associated with Papillary Thyroid Cancer.

Thyroid cancer is a great part of the endocrine tumor with an increasing incidence. Papillary thyroid carcinoma (PTC) is the most common subtype. With the enormous pace taken in the microarray technology, bioinformatics is applied in data mining more frequently. Weighted gene coexpression network analysis (WGCNA) can perform analysis combining clinic information. We performed WGCNA for prognostic genes associated with PTC. From the GEO profile, we got ten modules. We identified a key module that was closest to patients' survival time. Then, we screened five hub genes (ATRX, BOD1L1, CEP290, DCAF16, and NEK1) from the key module based on the clinical information from TCGA. These five genes not only significantly differ between the normal and tumor groups but have prognostic value. The receiver operating characteristic (ROC) curve indicated that they had the potential to serve as prognostic genes. We performed next-generation sequencing using the PTC tissue to get more convincing evidence. Besides, we established a new signature and verified it through K-M plots and ROC. The signature could be an independent factor for the prognosis of PTC, and we built a nomogram to carry out a quantitative study. In a word, the hub genes we explored in the study deserved more basic and clinical research.

Undifferentiated embryonic sarcoma of the adult liver with paraneoplastic syndrome: a case report.

Background: Undifferentiated embryonic sarcoma of the liver (UESL) is a rare primary liver sarcoma that mainly affects children. Since it was first reported in 1978, less than 100 cases of UESL in adults have been reported. Due to the lack of specificity of clinical symptoms and imaging findings, the misdiagnosis rate of UESL is very high, and the definite diagnosis is usually in the late stage. Paraneoplastic syndrome (PNS) is a clinical symptom caused by the production of hormones or hormone-like substances in some tumors. This report describes the clinical diagnosis and treatment of patients with these 2 rare disorders. The imaging, histological, and genetic manifestations of UESL are described. This study provides support for the clinical research progress of UESL. Case Description: We report the case of a 57-year-old male with UESL and a progressive abdominal mass. Preoperative fine needle aspiration cytology (FNAC) of intrahepatic mass and postoperative routine pathology showed UESL. Ultrasound examination showed solid intrahepatic mass. Both computed tomography (CT) and magnetic resonance imaging (MRI) showed a large necrotic lesion in the right lobe of the liver. Laboratory examination showed leukocytosis [white blood cells (WBC): 10,005/µL]. The percentage of neutrophils increased (Ne%: 85%). Blood glucose was increased [glucose (Glu): 19.27 mmol/L]. Moderate anemia was observed [hemoglobin (Hb): 64 g/L]. Serum tumor markers (including AFP, PIVIKA, CA19-9, and CEA) were normal. Hepatitis virus markers [hepatitis B surface antigen (HBsAg) and antibodies to hepatitis C virus (anti­HCV)] were negative. The patient presented with paraneoplastic symptoms such as fever, cough, night sweats, hyperinflammation, and hyperglycemia before surgery. After right hemihepatectomy, the paraneoplastic symptoms disappeared completely, and there was no recurrence in the follow-up for six months. Conclusions: UESL is rare, especially in adults. The clinical manifestations of UESL are very similar to those of liver abscess and liver cystic tumor at the initial stage of the disease, for which differentiation is necessary. UESL should be considered when there is large cystic liver disease. FNAC is a good way to confirm the diagnosis. Complete resection of the tumor and postoperative chemotherapy is still the main treatment for UESL. The long-term effects of the therapeutic agents identified by genetic testing in this patient on the disease remain to be seen.