Objective·To investigate the clinical,pathological,and molecular genetic features and prognosis of epithelioid hemangioendothelioma(EHE)patients.Methods·Clinical and follow-up data of 12 EHE patients diagnosed at Renji Hospital,Shanghai Jiao Tong University School of Medicine from September 2016 to December 2023 were collected.Tissue samples were analyzed using hematoxylin-eosin(H-E)staining,immunohistochemistry(IHC),and fluorescence in situ hybridization(FISH).Results·Among the 12 patients,there were 3 males and 9 females,with a mean age of(47.17±11.15)years.Tumors were located in the liver(6 cases),lung(4 cases),mediastinum(1 case),and supraclavicular region(1 case).Nine patients were asymptomatic,while 3 presented with mild symptoms such as chest tightness and fatigue.CT imaging revealed that EHE patients with involvement of livers and lungs exhibited multiple nodules,and 2 cases had tumors in both organs.Patients with tumors in the supraclavicular region and mediastinum presented with solitary nodules.H-E staining demonstrated that tumor tissues were composed of epithelioid,dendritic,and intermediate cells,arranged in acinar,cord-like,or clustered patterns.Epithelioid cells had round vesicular nuclei and eosinophilic cytoplasm,with some showing a signet-ring appearance and cytoplasmic vacuoles.The stroma contained a mucoid matrix.IHC staining revealed that mesenchymal endothelial markers,including vimentin,CD31,ETS transcription factor ERG,and factor Ⅷ-related antigen,were positive in the tumor tissues,while epithelial markers showed low positivity with weak staining.The Ki-67 indexes were also low.FISH analysis showed that 10 patients had a calmodulin-binding transcription activator 1(CAMTA1)gene break,while 2 patients had a transcription factor E3(TFE3)gene break.Of the 12 patients,11 were followed up for 2 to 38 months,with a mean follow-up time of 21.7 months.Three patients achieved tumor-free survival,6 were alive with tumors,1 died 4 months after surgery,and 1 died of heart disease 24 months after surgery.Conclusion·EHE has atypical clinical features,a tendency to recur,a and variable prognosis.Accurate diagnosis requires a combination of histopathology,IHC,and a molecular testing.

Objective·To investigate the clinical,pathological,and molecular genetic features and prognosis of epithelioid hemangioendothelioma(EHE)patients.Methods·Clinical and follow-up data of 12 EHE patients diagnosed at Renji Hospital,Shanghai Jiao Tong University School of Medicine from September 2016 to December 2023 were collected.Tissue samples were analyzed using hematoxylin-eosin(H-E)staining,immunohistochemistry(IHC),and fluorescence in situ hybridization(FISH).Results·Among the 12 patients,there were 3 males and 9 females,with a mean age of(47.17±11.15)years.Tumors were located in the liver(6 cases),lung(4 cases),mediastinum(1 case),and supraclavicular region(1 case).Nine patients were asymptomatic,while 3 presented with mild symptoms such as chest tightness and fatigue.CT imaging revealed that EHE patients with involvement of livers and lungs exhibited multiple nodules,and 2 cases had tumors in both organs.Patients with tumors in the supraclavicular region and mediastinum presented with solitary nodules.H-E staining demonstrated that tumor tissues were composed of epithelioid,dendritic,and intermediate cells,arranged in acinar,cord-like,or clustered patterns.Epithelioid cells had round vesicular nuclei and eosinophilic cytoplasm,with some showing a signet-ring appearance and cytoplasmic vacuoles.The stroma contained a mucoid matrix.IHC staining revealed that mesenchymal endothelial markers,including vimentin,CD31,ETS transcription factor ERG,and factor Ⅷ-related antigen,were positive in the tumor tissues,while epithelial markers showed low positivity with weak staining.The Ki-67 indexes were also low.FISH analysis showed that 10 patients had a calmodulin-binding transcription activator 1(CAMTA1)gene break,while 2 patients had a transcription factor E3(TFE3)gene break.Of the 12 patients,11 were followed up for 2 to 38 months,with a mean follow-up time of 21.7 months.Three patients achieved tumor-free survival,6 were alive with tumors,1 died 4 months after surgery,and 1 died of heart disease 24 months after surgery.Conclusion·EHE has atypical clinical features,a tendency to recur,a and variable prognosis.Accurate diagnosis requires a combination of histopathology,IHC,and a molecular testing.

Objective:To explore the influencing factors of early postoperative complications after radical resection of congenital choledochal cyst (CCC) in a single center and provide some clinical basis and guidance for reducing postoperative complications.Methods:Case control study.Clinical data of 124 children (29 boys and 95 girls) with CCC diagnosed and radically treated at the Affiliated Hospital of Zunyi Medical University from September 2010 to October 2019 were analyzed.According to postoperative complications (bile leakage, gastrointestinal anastomotic fistula, bleeding, incision dehiscence, cholangitis, abdominal infection, pancreatitis, and lymphatic fistula), these children were divided into the complication group (group A) and non-complication group (group B). Age, laboratory indicators[preoperative white blood cell (WBC) count, hemoglobin, glutamic pyruvic transaminase, prealbumin, and postoperative albumin], and clinical factors, such as operation method, operation time, intraoperative blood loss, cyst type, cyst diameter, hepatic duct diameter, abdominal operation history, biliary sludge and calculus, hepatic duct anatomic variation, and pancreaticobiliary maljunction were statistically analyzed between the two groups.The t-test was performed for normal distribution of the measurement data, and the non-parametric rank sum test for non-normal distribution.Multivariate analysis was made using Logistic regression. Results:Among the 124 children, 25(20.16%) had complications, and 99(79.84%) had no complications.Bile leakage occurred in 14 children (11.29%), of whom 7 received operation again and 7 received conservative treatment.Gastrointestinal anastomotic fistula occurred in 2 children (1.61%), of whom 1 was re-operated and 1 was cured conservatively.One child (0.81%) was complicated with bleeding and cured by re-operation.Two children (1.61%) were complicated with incision dehiscence, of whom 1 was cured by re-operation and 1 was cured by conservative treatment.Cholangitis in 2 children (1.61%), abdominal infection in 2 children (1.61%), pancreatitis in 1 child (0.81%), and lymphatic fistula in 1 child (0.81%) were all conservatively cured.No significant difference was found in non-normal distribution indicators-age and WBC count-between the two groups (all P>0.05). Blood loss volume and cyst diameter were significantly different between the two groups (all P<0.05). Postoperative albumin[(27.84±4.62) g/L vs.(32.45±3.72) g/L] meeting the normal distribution showed a statistically significant difference between the two groups ( t=5.254, P<0.05). Logistic multivariate regression analysis suggested that preoperative anemia ( OR=7.922, 95% CI: 1.468-42.757) and biliary sludge and calculus ( OR=1.295, 95% CI: 1.075-4.359) were independent risk factors for postoperative complications; postoperative albumin ( OR=0.055, 95% CI: 0.012-0.244) was a protective factor for postoperative complications, and the differences were statistically significant (all P<0.05). Conclusions:The larger the cyst diameter, the more the intraoperative bleeding, and the higher the risk of operation.Treating anemia before operation, clearing sludge in the hepatic duct during operation, reducing bleeding, and strengthening the monitoring of albumin and hemoglobin during the perioperative period can prevent and reduce early complications after radical resection of CCC in children.

Objective:To explore the influence of family function and personal characteristics on death anxiety in patients with advanced cancer, providing reference for finding methods and approaches to alleviate death anxiety in advanced cancer patients.Methods:From March to June 2023, convenience sampling was used to select 182 advanced cancer patients admitted to the Cancer Center of the Fifth Affiliated Hospital of Sun Yat-sen University. The Chinese Version of Death and Dying Distress Scale and Family APGAR Index were used to investigate patients' death anxiety and family function. The Numerical Rating Scale and Kamofsky Performance Status were used to assess patients' pain and performance status. Single factor analysis and multiple linear regression were used to analyze the influencing factors of death anxiety in advanced cancer patients.Results:A total of 182 questionnaires were distributed, and 165 valid questionnaires were collected, with a valid response rate of 90.7%. The death anxiety score of advanced cancer patients was (22.52±15.27), and 10.3% (17/165) of patients had moderate or above death anxiety. The patients' total family function score was (8.62±1.97), and 86.7%(143/165) patients self-reported good family function. The death anxiety score was negatively correlated with the family function score ( P<0.05). Multiple linear regression analysis showed that Kamofsky Performance Status score, pre-illness employment, family function, place of residence, and pain score were the influencing factors of death anxiety in advanced cancer patients, and the differences were statistically significant ( R2=0.196, P<0.01) . Conclusions:The advanced cancer patients have low levels of death anxiety in our study. Advanced cancer patients with moderate family dysfunction, living in rural areas, working before illness, and high pain scores have high levels of death anxiety, while patients with good performance status have low levels of death anxiety. It is recommended that clinical workers strengthen the assessment of death anxiety and family function in patients with advanced cancer, take timely and effective measures based on influencing factors, and help alleviate death anxiety in patients with advanced cancer.

Objective:To describe the special molecular and histopathological transformation of recurrent tumor in a patient with primary hepatocellular carcinoma(HCC)after liver transplantation.Methods:A case of HCC had recurrent tumor presenting special molecular and histopathological characteristics after liver transplantation.The diagnosis and treatment process of this case is reported.Results:A case of highly differentiated HCC received immune checkpoint inhibitors combined with antiangiogenic therapy after liver malignant tumor resection.Nearly one year later,due to severe liver cirrhosis,the case accepted allogeneic orthotopic transplantation of liver.More than two years later,elevated level of serum alpha fetoprotein was detected,then the PET-CT examination showed multiple suspected lesions with increased 18F-FDG metabolism in the right lobe of the liver.Liver biopsy and high-throughput sequencing were performed,and the results revealed poorly differentiated HCC with YAP1-MAML2 fusion gene.Chemotherapy with XELOX regimen and radiotherapy were administered,and no tumor progression was observed during follow-up.Conclusion:Recurrent tumors after liver transplantation in HCC patient developing into a special molecular and histopathological transformation is rarely reported.The underlying mechanism could be the dramatical alterations of immune microenvironment after liver transplantation,which consequently triggered genomic changes leading to generate novel YAP1-MAML2 fusion gene.The poor differentiation transformation after liver transplantation maybe driven by YAP1-MAML2 fusion gene.

Objective:To describe the special molecular and histopathological transformation of recurrent tumor in a patient with primary hepatocellular carcinoma(HCC)after liver transplantation.Methods:A case of HCC had recurrent tumor presenting special molecular and histopathological characteristics after liver transplantation.The diagnosis and treatment process of this case is reported.Results:A case of highly differentiated HCC received immune checkpoint inhibitors combined with antiangiogenic therapy after liver malignant tumor resection.Nearly one year later,due to severe liver cirrhosis,the case accepted allogeneic orthotopic transplantation of liver.More than two years later,elevated level of serum alpha fetoprotein was detected,then the PET-CT examination showed multiple suspected lesions with increased 18F-FDG metabolism in the right lobe of the liver.Liver biopsy and high-throughput sequencing were performed,and the results revealed poorly differentiated HCC with YAP1-MAML2 fusion gene.Chemotherapy with XELOX regimen and radiotherapy were administered,and no tumor progression was observed during follow-up.Conclusion:Recurrent tumors after liver transplantation in HCC patient developing into a special molecular and histopathological transformation is rarely reported.The underlying mechanism could be the dramatical alterations of immune microenvironment after liver transplantation,which consequently triggered genomic changes leading to generate novel YAP1-MAML2 fusion gene.The poor differentiation transformation after liver transplantation maybe driven by YAP1-MAML2 fusion gene.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of three children with Menkes disease. METHODS: Three children who had presented at the Children's Medical Center, the Affiliated Hospital of Guangdong Medical University from January 2020 to July 2022 were selected as the study subjects. Clinical data of the children were reviewed. Genomic DNA was extracted from peripheral blood samples of the children, their parents and sister of child 1. Whole exome sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing, copy number variation sequencing (CNV-seq), and bioinformatic analysis. RESULTS: Child 1 was a 1-year-and-4-month male, and children 2 and 3 were monozygotic twin males aged 1-year-and-10-month. The clinical manifestations of the three children have included developmental delay and seizures. WES showed that child 1 has harbored a c.3294+1G>A variant of the ATP7A gene. Sanger sequencing confirmed that his parents and sister did not carry the same variant, suggesting that it was de novo. Children 2 and 3 had carried a c.77266650_77267178del copy number variation. CNV-seq results showed that their mother has carried the same variant. By searching the HGMD, OMIM and ClinVar databases, the c.3294+1G>A was known to be pathogenic. No carrier frequency has been recorded in the 1000 Genomes, ESP, ExAC and gnomAD databases. Based on the Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG), the ATP7A gene c.3294+1G>A variant was predicted to be pathogenic. The c.77266650_77267178del variant has involved exons 8 to 9 of the ATP7A gene. ClinGen online system score for it was 1.8, which was also considered to be pathogenic. CONCLUSION The c.3294+1G>A and c.77266650_ 77267178del variants of the ATP7A gene probably underlay the Menkes disease in the three children. Above finding has enriched the mutational spectrum of Menkes disease and provided a basis for clinical diagnosis and genetic counseling.
Humans ; Male ; Computational Biology ; Copper-Transporting ATPases/genetics* ; DNA Copy Number Variations ; Exons ; Menkes Kinky Hair Syndrome/genetics* ; Mutation ; Peptide Fragments ; Seizures ; Infant

In the post-genomic era,with the advancement of molecular pathological detection techniques,the mode of tumor prevention,diagnosis and treatment has changed dramatically.Molecular pathological detection techniques has been more and more used in the whole course management of solid tumors,and has become critical for promoting the overall survival of patients with solid tumors.In recently years,molecular pathological testing represented by next generation sequencing(NGS)has played key roles in identification of genetic susceptibility genes,early detection of solid tumors and development of personalized therapeutic strategies for malignant solid tumors.This review briefly introduces the real world application of different molecular pathological testing platforms in different stages of tumor prevention and management as well as the potential problems.

To explore the feasibility and efficacy of isolated caudate lobe resection for caudate lobe in huge hepatocellular carcinoma(10 cm or larger in diameter).
 Methods: Clinical data of 27 patients with hepatocellular carcinoma larger than 10 cm who underwent isolated caudate lobe resection from January 2001 to December 2011 were retrospectively analyzed.
 Results: All the patients successfully completed the operation. There was no postoperative death. Median operative time was 288 min, and the estimated intraoperative blood loss was 2 260 mL. Postoperative morbidity rate was 44.4%. The patients were discharged successfully after active treatment. Overall survival rates at 1, 3, and 5 years were 80.2%, 52.1%, and 27.1%, respectively.
 Conclusion: Isolated caudate lobe resection is safe and effective for caudate lobe huge hepatocellular carcinoma.
Carcinoma, Hepatocellular ; mortality ; surgery ; Hepatectomy ; Humans ; Liver Neoplasms ; mortality ; surgery ; Retrospective Studies ; Survival Analysis ; Treatment Outcome

Hirschsprung's disease (HD) is one of the most common gastrointestinal malformations in pediatric surgery.HD may be one complex disease due to interaction of multiple genes with the environment,which is a disease closely related to intestinal neural crest cell migration disorders,but the actual pathogenesis was not yet clear.Even if the surgical resection of intestinal lesions,but the postoperative complications still occur in different degrees.In recent years,with the continuous improvement of surgical methods,the radical resection techniques of HD has made great progress,and the vast majority of children can get better results after operation.However,part of the distal internal sphincter has been retained by all the existing radical resection technology,which may result in postoperative constipation,abdominal distension and enterocolitis,seriously affect the quality of life in children.Most of these complications are related to the residual of rectal muscle sheath,therefore,how to improve the therapeutic effect of HD,more accurate treatment of rectal muscle sheath,is the goal of pediatric surgeons to pursue.