Brain tissue heterotopic in the adrenal gland in a child: a scarce case report.

Heterotopic brain tissue is rare and has not been reported. Our center made the first report. 4 years and 2 months old Girl presented with a cystic mass in the right adrenal gland 2 weeks after right upper abdominal pain. The operation was successful, and the diagnosis was confirmed by postoperative pathology. 6 months after the procedure, the incision healed well without recurrence. This case report has a detailed diagnosis and treatment process and satisfactory examination results. It can provide a reference for diagnosing and treating clinical HBT and reduce the risk of misdiagnosis and mistreatment.

Prognostic significance of surgery and radiotherapy in elderly patients with localized prostate cancer: establishing and time-based external validation a nomogram from SEER-based study.

OBJECTIVE: Prostate cancer (PC) is a significant disease affecting men's health worldwide. More than 60% of patients over 65 years old and more than 80% are diagnosed with localized PC. The current choice of treatment modalities for localized PC and whether overtreatment is controversial. Therefore, we wanted to construct a nomogram to predict the risk factors associated with cancer-specific survival (CSS) and overall survival (OS) in elderly patients with localized PC while assessing the survival differences in surgery and radiotherapy for elderly patients with localized PC. METHODS: Data of patients with localized PC over 65 years were obtained from the Surveillance, Epidemiology, and End Results (SEER) database. Univariate and multivariate Cox regression models were used to determine independent risk factors for CSS and OS. Nomograms predicting CSS and OS were built using multivariate Cox regression models. The consistency index (C-index), the area under the subject operating characteristic curve (AUC), and the calibration curve were used to test the accuracy and discrimination of the prediction model. Decision curve analysis (DCA) was used to test the potential clinical value of this model. RESULTS: A total of 90,434 patients over 65 years and diagnosed with localized PC from 2010 to 2018 were included in the study. All patients were randomly assigned to the training set (n = 63,328) and the validation set (n = 27,106). Univariate and multivariate Cox regression model analysis showed that age, race, marriage, T stage, surgical, radiotherapy, prostate-specific antigen (PSA), and Gleason score (GS) were independent risk factors for predicting CSS in elderly patients with localized PC. Age, race, marriage, surgery, radiotherapy, PSA, and GS were independent risk factors for predicting OS in elderly patients with localized PC. The c-index of the training and validation sets for the predicted CSS is 0.802(95%CI:0.788-0.816) and 0.798(95%CI:0.776-0.820, respectively). The c-index of the training and validation sets for predicting OS is 0.712(95%:0.704-0.720) and 0.724(95%:0.714-0.734). It shows that the nomograms have excellent discriminatory ability. The AUC and the calibration curves also show good accuracy and discriminability. CONCLUSION: We have developed new nomograms to predict CSS and OS in elderly patients with localized PC. After internal validation and external temporal validation with reasonable accuracy, reliability and potential clinical value, the model can be used for clinically assisted decision-making.

Doxycycline hydrochloride inhibits the progress of malignant rhabdoid tumor of kidney by targeting MMP17 and MMP1 through PI3K-Akt signaling pathway.

OBJECTIVE: To identify therapeutic targets for malignant rhabdoid tumors of kidney (MRTK) and to investigate the effects and underlying mechanism of doxycycline hydrochloride on these tumors. METHODS: Gene expression and clinical data of MRTK were retrieved from the TARGET database. Differentially expressed genes (DEGs) and prognostic-related genes (PRGs) were selected through a combination of statistical analyses. The functional roles of MMP17 and MMP1 were elucidated through RNA overexpression and intervention experiments. Furthermore, in vitro and in vivo studies provided evidence for the inhibitory effect of doxycycline hydrochloride on MRTK. Additionally, transcriptome sequencing was employed to investigate the underlying molecular mechanisms. RESULTS: 3507 DEGs and 690 PRGs in MRTK were identified. Among these, we focused on 41 highly expressed genes associated with poor prognosis and revealed their involvement in extracellular matrix regulatory pathways. Notably, MMP17 and MMP1 stood out as particularly influential genes. When these genes were knocked out, a significant inhibition of proliferation, invasion and migration was observed in G401 cells. Furthermore, our study explored the impact of the matrix metalloproteinase inhibitor, doxycycline hydrochloride, on the malignant progression of G401 both in vitro and in vivo. Combined with sequencing data, the results indicated that doxycycline hydrochloride effectively inhibited MRTK progression, due to its ability to suppress the expression of MMP17 and MMP1 through the PI3K-Akt signaling pathway. CONCLUSION: Doxycycline hydrochloride inhibits the expression of MMP17 and MMP1 through the PI3K-Akt signaling pathway, thereby inhibiting the malignant progression of MRTK in vivo and in vitro.

The PI3K-AKT-mTOR signaling pathway mediates the cytoskeletal remodeling and epithelial-mesenchymal transition in bladder outlet obstruction.

Objective: Partial bladder outlet obstruction(pBOO) is the most common cause of lower urinary tract symptoms (LUTS) and significantly affects the quality of life. Long-term pBOO can cause changes in bladder structure and function, referred to as bladder remodeling. The pathogenesis of pBOO-induced bladder remodeling has yet to be fully understood, so effective treatment options are lacking. Our study aimed to explore how pBOO-induced bladder remodeling brings new strategies for treating pBOO. Methods: A rat model of pBOO was established by partial ligation of the bladder neck, and the morphological changes and fibrosis changes in the bladder tissues were detected by H&E and Masson trichrome staining. Furthermore, EMT(epithelial-mesenchymal transition) related indicators and related pathway changes were further examined after TGF- ß treatment of urothelial cells SV-HUC-1. Finally, the above indicators were tested again after using the PI3K inhibitor. Subsequently, RNA sequencing of bladder tissues to identify differential genes and related pathways enrichment and validated by immunofluorescence and western blotting analysis. Results: The pBOO animal model was successfully established by partially ligating the bladder neck. H&E staining showed significant changes in the bladder structure, and Masson trichrome staining showed significantly increased collagen fibers. RNA sequencing results significantly enriched in the cytoskeleton, epithelial-mesenchymal transformation, and the PI3K-AKT-mTOR signaling pathway. Immunofluorescence and western blotting revealed EMT and cytoskeletal remodeling in SV-HUC-1 cells after induction of TGF- ß and in the pBOO bladder tissues. The western blotting showed significant activation of the PI3K-AKT-mTOR signaling pathway in SV-HUC-1 cells after induction of TGF-ß and in pBOO bladder tissues. Furthermore, EMT and cytoskeletal damage were partially reversed after PI3K pathway inhibition using PI3K inhibitors. Conclusions: In the pBOO rat model, the activation of the PI3K-AKT-mTOR signaling pathway can mediate the cytoskeletal remodeling and the EMT to induce fibrosis in the bladder tissues. PI3K inhibitors partially reversed EMT and cytoskeletal damage.

Development and validation of a nomogram to predict cancer-specific survival in nonsurgically treated elderly patients with prostate cancer.

Prostate Cancer (PC) is the most common male nonskin tumour in the world, and most diagnosed patients are over 65 years old. The main treatment for PC includes surgical treatment and nonsurgical treatment. Currently, for nonsurgically treated elderly patients, few studies have evaluated their prognostic factors. Our aim was to construct a nomogram that could predict cancer-specific survival (CSS) in nonsurgically treated elderly PC patients to assess their prognosis-related independent risk factors. Patient information was obtained from the Surveillance, Epidemiology and End Results (SEER) database, and our target population was nonsurgically treated PC patients who were over 65 years old. Independent risk factors were determined using both univariate and multivariate Cox regression models. A nomogram was built using a multivariate Cox regression model. The accuracy and discrimination of the prediction model were tested using the consistency index (C-index), the area under the subject operating characteristic curve (AUC), and the calibration curve. Decision curve analysis (DCA) was used to examine the potential clinical value of this model. A total of 87,831 elderly PC patients with nonsurgical treatment in 2010-2018 were included in the study and were randomly assigned to the training set (N = 61,595) and the validation set (N = 26,236). Univariate and multivariate Cox regression model analyses showed that age, race, marital status, TNM stage, chemotherapy, radiotherapy modality, PSA and GS were independent risk factors for predicting CSS in nonsurgically treated elderly PC patients. The C-index of the training set and the validation set was 0.894 (95% CI 0.888-0.900) and 0.897 (95% CI 0.887-0.907), respectively, indicating the good discrimination ability of the nomogram. The AUC and the calibration curves also show good accuracy and discriminability. We developed a new nomogram to predict CSS in elderly PC patients with nonsurgical treatment. The model is internally validated with good accuracy and reliability, as well as potential clinical value, and can be used for clinical aid in decision-making.

Posterior urethral hamartoma with hypospadias in a child: a case report and literature review.

Background: Hamartoma is a mass formed by the proliferation and disorder of two or more kinds of cells inherent in normal organs or anatomical parts, which can occur in any part of the body. The most common hamartoma are kidney hamartoma, spleen hamartoma, liver hamartoma, and lung hamartoma. Urethral hamartoma is extremely rare in clinical practice. Case report: Combined with literature review, the diagnosis and treatment process of a child with posterior urethral hamartoma and hypospadias in our hospital were analyzed. The patient was cured after surgical treatment, the lesion was completely removed, the appearance was satisfactory, and there was no recurrence, urethral stricture, urethral fistula, and other complications. The pathological results of this case support the histological diagnosis of hamartoma, which provides reference for the clinical diagnosis and treatment of congenital malformation and tumor of urogenital in children. Conclusion: When a child has posterior urethral hamartoma, the symptoms may not be very typical, and it is often combined with urethral malformation. Therefore, it is necessary to perform careful physical examination combined with pathological examination to be able to make an accurate diagnosis. Under normal circumstances, the prognosis of urethral hamartoma is good. However, more cases are needed to be observed for verification, and a long-term effective follow-up after surgery is needed.

Bilateral adrenal giant medullary lipoma combined with disorders of sex development: a rare case report and literature review.

Bilateral adrenal myelolipoma is rare in clinics and patients with disorders of sex development (DSDs). One case was reported in our center. A 45-year-old patient was admitted to the hospital after discovering a left abdominal mass for more than a year and worsening abdominal pain for 18 days. An imaging examination showed bilateral adrenal masses. Physical examination showed clitoris hypertrophy with patelliform changes, thick and dense pubic hair, normal development of bilateral labia majora without labia minora, and urethral opening. After the relevant preoperative examinations, bilateral adrenal mass resection was performed under general anesthesia. The postoperative pathology confirmed adrenal myelolipoma. The incision healed well without recurrence over 10 years after the operation. Her enlarged clitoris decreased in size. This case report has a detailed diagnosis and treatment process and sufficient examination results. It can provide a reference for diagnosing and treating patients with bilateral adrenal myelolipoma and DSD and reduce the risk of misdiagnosis and mistreatment.

Association between FGA gene polymorphisms and coronary artery lesion in Kawasaki disease.

Objective: To investigate the correlation between FGA gene polymorphisms and coronary artery lesion in Kawasaki disease. Methods: Two hundred and thirty four children with Kawasaki disease (KD group), 200 healthy children (normal group) and 208 children with non-KD fever (fever group) were enrolled. General clinical indicators, the concentration of serum MMPs, TIMP-1, FG-α,fibrinogen level, molecular function (FMPV/ODmax) and FGA Thr312Ala polymorphism were detected individually by testing peripheral venous blood after fasting in the morning. Results: There was no significant difference in average age among the three groups, which were 3.03 ± 1.22 years, 3.17 ± 1.30 years, and 3.21 ± 1.31 years, respectively. Compared with those in the fever group, the levels of white blood cell count (WBC), platelet count (PLT), procalcitonin (PCT), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), interleukin-6 (IL-6), monocyte chemoattractant protein-1 (MCP-1), and fibrinogen (Fg) levels were significantly increased in the KD group. Red blood cell count (RBC) and hemoglobin (Hb) levels were significantly decreased (p < 0.05).The concentration of serum MMPs, TIMP-1, and FG-α in the KD and fever groups were significantly higher than those in the normal group (p < 0.05). The concentration of MMP-2, MMP-3, MMP-9, MMP-13, TIMP-1, and FG-α in the KD group were significantly higher than those in the fever group (p < 0.05).The KD group was divided into two subgroups,55 patients with combined CAL and 179 patients without combined CAL. The plasma fibrinogen concentration in the combined CAL group was significantly higher than that in the non-combined CAL and normal groups (p < 0.01). There was no statistically significant difference in FMPV/ODmax among the three groups (p > 0.05). Compared with normal group, the FGA GG, GA, and AA genotype and G, A allele frequency of the FGA gene polymorphism in the KD group showed no significant difference (p > 0.05). In the KD group, the most common type in children with CAL was GA, while the most common type in children without CAL was GG. Conclusion: MMPs and FG-α were significantly upregulated in KD patients. The proportion of FGA genotype GA in children with CAL was significantly higher than that in children without CAL, suggesting that FGA gene polymorphisms affect coronary artery lesion in children with KD.

Congenital giant fibroepithelial polyp of the scrotum in an infant: the first case report from China.

Giant fibroepithelial polyp (FP) of the scrotum in infants is a rare disease. We reported the first case of FP in China. The child was only 9 months and 12 days old and was admitted to the hospital due to rapid growth and rupture of the scrotal mass. The patient underwent scrotal exploration under general anesthesia, and the mass was cystic-solid with clear boundaries. The tumor did not invade the sarcolemma of the scrotum and testicular tissue. The intraoperative pathological frozen section tended to be benign, and the scrotum's tumor and subcutaneous pedicle tissue were removed entirely after 0.5 cm from the boundary of the mass. The operation was successful. The mass was confirmed as FP by postoperative pathology. 6 months after the operation, the incision healed well without recurrence. This case report has a detailed diagnosis and treatment process and adequate examination results. It can provide a reference for diagnosing and treating FP in infants and reduce the risk of misdiagnosis and mistreatment.

Surveillance of prognostic risk factors in patients with SCCB using artificial intelligence: a retrospective study.

Small cell carcinoma of the bladder (SCCB) is a rare urological tumor. The prognosis of SCCB is abysmal. Therefore, this study aimed to construct nomograms that predict overall survival (OS) and cancer-specific survival (CSS) in SCCB patients. Information on patients diagnosed with SCCB during 2004-2018 was obtained from the Surveillance, Epidemiology, and End Results (SEER) database. Univariate and multivariate Cox regression models analyzed Independent risk factors affecting patients' OS and CSS. Nomograms predicting the OS and CSS were constructed based on the multivariate Cox regression model results. The calibration curve verified the accuracy and reliability of the nomograms, the concordance index (C-index), and the area under the curve (AUC). Decision curve analysis (DCA) assessed the potential clinical value. 975 patients were included in the training set (N = 687) and the validation set (N = 288). Multivariate COX regression models showed that age, marital status, AJCC stage, T stage, M stage, surgical approach, chemotherapy, tumor size, and lung metastasis were independent risk factors affecting the patients' OS. However, distant lymph node metastasis instead AJCC stage is the independent risk factor affecting the CSS in the patients. We successfully constructed nomograms that predict the OS and CSS for SCCB patients. The C index of the training set and the validation set of the OS were 0.747 (95% CI 0.725-0.769) and 0.765 (95% CI 0.736-0.794), respectively. The C index of the CSS were 0.749 (95% CI 0.710-0.773) and 0.786 (95% CI 0.755-0.817), respectively, indicating that the predictive models of the nomograms have excellent discriminative power. The calibration curve and the AUC also show good accuracy and discrimination of the nomograms. To sum up, We established nomograms to predict the OS and CSS of SCCB patients. The nomograms have undergone internal cross-validation and show good accuracy and reliability. The DCA shows that the nomograms have an excellent clinical value that can help doctors make clinical-assisted decision-making.

BKM120 inhibits malignant rhabdoid tumor of the kidney through induction of apoptosis and G0/G1 phase arrest.

Malignant rhabdoid tumor of the kidney (MRTK) has an inferior prognosis and is insensitive to radiotherapy and chemotherapy. Search for novel, potent medicinal agents is urgent. Herein, data on the gene expression and clinical characteristics of malignant rhabdoid tumors (MRT) were retrieved from the TARGET database. Prognosis-related genes were identified by differential analysis and one-way cox regression analysis, and prognosis-related signalling pathways were identified by enrichment analysis. The prognosis-related genes were imported into the Connectivity Map database for query, and BKM120 was predicted and screened as a potential therapeutic agent for MRTK. A combination of high-throughput RNA sequencing and Western blot verified that the PI3K/Akt signaling pathway is associated with MRTK prognosis and is overactivated in MRTK. Our results outlined that BKM120 inhibited the proliferation, migration, and invasion ability of G401 cells and induced apoptosis and cell cycle G0/G1 phase arrest. In vivo, BKM120 inhibited tumor growth and had no significant toxic side effects. Western blot and immunofluorescence results confirmed that BKM120 could reduce the expression of PI3K and p-AKT, critical proteins of the PI3K/Akt signaling pathway. BKM120 inhibits MRTK by inhibiting PI3K/Akt signalling pathway to induce apoptosis and cell cycle G0/G1 phase arrest, which is anticipated to give the clinical treatment of MRTK a new direction.

Development and validation of a nomogram to predict cancer-specific survival in middle-aged patients with papillary thyroid cancer: A SEER database study.

Background: Thyroid cancer (TC) accounts for more than 90% of endocrine tumours and is a typical head and neck tumour in adults. The aim of this study was to develop a predictive tool to predict cancer-specific survival (CSS) in middle-aged patients with papillary thyroid carcinoma (PTC). Methods: The patients from 2004 to 2015 were randomly divided into a training cohort (n = 25,342) and a internal validation cohort (n = 10,725). The patients from 2016 to 2018 were treated as an external validation cohort (n = 11353). COX proportional hazard model was used to screen meaningful independent risk factors. These factors were constructed into a nomogram to predict CSS in middle-aged patients with PTC. The performance and accuracy of the nomogram were then evaluated using the concordance index (C-index), calibration curve and the area under the curve (AUC). The clinical value of nomogram was evaluated by decision curve analysis (DCA). Results: Age, gender, marriage, tumour grade, T stage, N stage, M stage, surgery, chemotherapy, and tumour size were independent prognostic factors. The C-indexes of the training, internal validation, and external validation cohorts were 0.906, 0.887, and 0.962, respectively. The AUC and calibration curves show good accuracy. DCA shows that the clinical value of the nomogram is higher than that of Tumour, Node and Metastasis (TNM) staging. Conclusion: We developed a new prediction tool to predict CSS in middle-aged patients with PTC. The model has good performance after internal and external validation, which can be friendly to help doctors and patients predict CSS.

Efficacy analysis of multidisciplinary treatment for Wilms tumor in a single center.

OBJECTIVE: To analyze the efficacy of multidisciplinary treatment for Wilms tumor (WT) in Kunming Children's Hospital, and investigate the risk factors affecting the prognosis of WT. METHODS: The clinic-pathological data were collected and analyzed in patients with unilateral WT treated in Kunming Children's Hospital from January 2017 to July 2021. Research subjects were selected according to inclusion criteria and exclusion criteria. The risk factors and independent risk factors that affect the prognosis of patients with WT were determined by Kaplan-Meier survival analysis and Cox proportional hazards model, respectively. OUTCOME: A total of 68 children were included in this study, and the 5-year overall survival (OS) rate was 87.4%. Kaplan-Meier survival analysis results showed that ethnicity (P = 0.020), the tumor volume of resection (P = 0.001), histological type (P < 0.001), and postoperative recurrence (P < 0.001) were the risk factors affecting the prognosis of children with WT. The results of the Cox proportional hazards model showed that only the histological type (P = 0.018) was the independent risk factor for the prognosis of WT. CONCLUSION: The efficacy of multidisciplinary treatment for WT was satisfying. The histological type has important predictive value for the prognosis of WT, and the patient with unfavorable histology has a poor prognosis.

Doxycycline Hydrochloride Regulates Cytoskeletal Rearrangement and Epithelial-To-Mesenchymal Transition in Malignant Rhabdoid Tumour of the Kidney.

Objective: As a highly malignant tumour, malignant rhabdoid tumours of the kidney (MRTK) are prone to metastasis and invasion, while tumour metastasis and invasion are inseparable from matrix metalloproteinases (MMPs) and epithelial-mesenchymal transformation (EMT). Moreover, the key to EMT is remodelling of the cytoskeleton. Therefore, our study is aimed at investigating whether doxycycline hydrochloride (DCH), an inhibitor of MMPs, could reverse EMT in MRTK to exert an antitumour effect by regulating MMPs and the cytoskeleton. Methods: The existence of EMT in MRTK cells was verified by bioinformatics analysis, immunofluorescence, and western blotting (WB). In vitro, the proliferation, migration, and invasion abilities of G401 cells were examined by Cell Counting Kit-8 (CCK-8), scratch, and Transwell assays, respectively. The effect of DCH on tumour growth in tumour-bearing mice was explored in in vivo experiments, and the expression of MMP2 and MMP9 and EMT correlation indexes was measured by immunofluorescence and WB, and the changes in cytoskeletal F-actin and ß-tubulin were measured by fluorescence. Results: The altered extracellular matrix (ECM) composition, EMT, and high expression of MMP2 and MMP9 existed in MRTK. DCH inhibited the proliferation, migration, and invasion of G401 cells in vitro. In vivo, DCH inhibited tumour growth in mice, downregulated the expression of MMP2 and MMP9, and partially reversed EMT. Alternatively, DCH resulted in cytoskeletal rearrangements of G401 cells. Conclusions: DCH, as an MMP inhibitor, is used for the first time in MRTK research, showing good antitumour effects by reversing EMT and potentially providing new therapeutic measures for MRTK treatment.

Exosome mimetics derived from bone marrow mesenchymal stem cells deliver doxorubicin to osteosarcoma in vitro and in vivo.

Osteosarcoma is a bone tumor with a high incidence in children and adolescents. Chemotherapy for osteosarcoma is limited, and effective targeted drugs are urgently needed to treat osteosarcoma. Exosomes as a natural nano drug delivery platform have been widely studied and proven to have good drug delivery performance. However, the low production of exosomes hinders its development as a carrier. Exosome mimetics (EMs) as an alternative product of exosomes solve the problem of low production of exosomes and maintain the good performance of exosomes as carriers. In this study, bone marrow mesenchymal stem cells (BMSCs) were sequentially extruded to generate EMs to encapsulate doxorubicin (EM-Dox) to treat osteosarcoma. The results showed that we successfully prepared EMs of BMSC, and EM-Dox was prepared using an active-loading approach. Our engineered EM-Dox demonstrated significantly more potent tumor inhibition activity and fewer side effects than free doxorubicin. This novel biological nanomedicine system provides a promising opportunity to develop novel precision medicine for osteosarcoma.

Gleason score, surgical and distant metastasis are associated with cancer-specific survival and overall survival in middle aged high-risk prostate cancer: A population-based study.

Objective: According to statistics, patients with high-risk prostate cancer (PC) account for about 15% of prostate cancer diagnoses, and high-risk patients usually have a poor prognosis due to metastasis and recurrence and have a high mortality rate. Therefore, the accurate prediction of prognostic-related risk factors in middle-aged high-risk PC patients between 50 and 65 can help reduce patient mortality. We aimed to construct new nomograms for predicting cancer-specific survival (CSS) and Overall survival (OS) in middle-aged high-risk PC patients. Methods: Data for patients aged between 50 and 65 years old and diagnosed with high-risk PC were obtained from the Surveillance, Epidemiology, and End Results (SEER) database. Univariate and multivariate Cox regression models were used to identify independent risk factors for CSS and OS in patients. Nomograms predicting CSS and OS were developed based on multivariate Cox regression models. The concordance index (C-index), the area under the receiver operating characteristic curve (AUC), and the calibration curve are used to detect the accuracy and discrimination of the model. Decision curve analysis (DCA) is used to detect the potential clinical value of this model. Results: Between 2010 and 2018, 1,651 patients diagnosed with high-risk PC and aged 50-65 years were included. In this study, the training group (n = 1,146) and the validation group (n = 505) were randomly assigned in a ratio of 7:3. The results showed that M stage, Gleason (GS) and surgical mode were independent risk factors for CSS; marital status, T stage, M stage, surgical mode, and GS were independent risk factors for OS. The C-index for predicting CSS in the training and validation groups are 0.84 and 0.811, respectively; the C-index for predicting OS in the training and validation groups are 0.824 and 0.784, respectively. The AUC and the calibration curves also showed good accuracy and discrimination. Conclusions: We constructed new nomograms to predict CSS and OS in middle-aged high-risk PC patients. The prediction tools showed good accuracy and reliability, which can help clinicians and patients to make better clinical decisions.

Clinical and prognostic analysis of 42 children with malignant rhabdoid tumor of the kidney: a 7-year retrospective multi-center study.

OBJECTIVE: To discuss the clinical and prognostic indicators of pediatric malignant rhabdoid tumor of the kidney (MRTK), and to increase the understanding of the occurrence and development of MRTK. METHODS: From July 2014 to September 2021, all cases were confirmed by postoperative pathological examination. Among the 42 patients, there were 25 males and 17 females, with a median age of 10 (1-84) months. Abdominal mass or hematuria were the main clinical manifestations. Preoperative chemotherapy was performed in 9 cases (VC). The tumor stages were stage I-IV. Preoperative metastasis was found in 9 cases; the most common site was the lung. Postoperative patients received conventional chemotherapy, including VDACE regimen and UH-1 regimen. Among the 42 children in this group, survival at follow-up in this study was 26.2%(11/42). RESULTS: Preoperative anemia was found by univariate analysis, hypertension and hypercalcemia had shorter survival time. In addition, tumor-related factors had a significant impact on survival, with incomplete tumor resection, lymph node metastasis, stage III-IV had a lower survival rate. The impact of postoperative factors on survival included postoperative complications had a lower survival rate. The children were younger than 12 months, preoperative metastasis, no chemotherapy was performed after surgery was an independent risk factor for the prognosis of MRTK. CONCLUSION: The main clinical manifestations about MRTK were abdominal mass and hematuria. Preoperative chemotherapy did not significantly improve the prognosis. Postoperative chemotherapy can significantly improve the survival rate. Diagnosis depends on clinical manifestations, imaging, histopathology, immunohistochemistry and other comprehensive judgment. Age less than 12 months, preoperative metastasis, and no postoperative chemotherapy were independent risk factors for prognosis.

A novel cuproptosis-related subtypes and gene signature associates with immunophenotype and predicts prognosis accurately in neuroblastoma.

Background: Neuroblastoma (NB) is the most frequent solid tumor in pediatrics, which accounts for roughly 15% of cancer-related mortality in children. NB exhibited genetic, morphologic, and clinical heterogeneity, which limited the efficacy of available therapeutic approaches. Recently, a new term 'cuproptosis' has been used to denote a unique biological process triggered by the action of copper. In this instance, selectively inducing copper death is likely to successfully overcome the limitations of conventional anticancer drugs. However, there is still a gap regarding the role of cuproptosis in cancer, especially in pediatric neuroblastoma. Methods: We characterized the specific expression of cuproptosis-related genes (CRGs) in NB samples based on publicly available mRNA expression profile data. Consensus clustering and Lasso-Cox regression analysis were applied for CRGs in three independent cohorts. ESTIMATE and Xcell algorithm was utilized to visualize TME score and immune cell subpopulations' relative abundances. Tumor Immune Dysfunction and Exclusion (TIDE) score was used to predict tumor response to immune checkpoint inhibitors. To decipher the underlying mechanism, GSVA was applied to explore enriched pathways associated with cuproptosis signature and Connectivity map (CMap) analysis for drug exploration. Finally, qPCR verified the expression levels of risk-genes in NB cell lines. In addition, PDHA1 was screened and further validated by immunofluorescence in human clinical samples and loss-of-function assays. Results: We initially classified NB patients according to CRGs and identified two cuproptosis-related subtypes that were associated with prognosis and immunophenotype. After this, a cuproptosis-related prognostic model was constructed and validated by LASSO regression in three independent cohorts. This model can accurately predict prognosis, immune infiltration, and immunotherapy responses. These genes also showed differential expression in various characteristic groups of all three datasets and NB cell lines. Loss-of-function experiments indicated that PDHA1 silencing significantly suppressed the proliferation, migration, and invasion, in turn, promoted cell cycle arrest at the S phase and apoptosis of NB cells. Conclusions: Taken together, this study may shed light on new research areas for NB patients from the cuproptosis perspective.