Four years of natural progressive course: A rare case report of juvenile Xp11.2 translocations renal cell carcinoma with TFE3 gene fusion.

Background: Renal cell carcinoma (RCC) with TFE3 gene fusion caused by Xp11.2 translocations is a rare RCC subtype. This tumor is typically seen in children, comprising 20‒40% of overall RCC cases compared to 1‒1.6% observed in adults. Xp11.2 RCC is associated with a poor prognosis due to both the progression of local lesions and early distant and lymphatic metastasis. Case presentation: A case of RCC with Xp11.2 RCC translocations and TFE3 gene fusion was found in a pediatric patient, illustrating the catastrophic effects of ignoring the condition. The tumor developed from a local lesion to lymph metastasis (3.2-12 cm) within 4 years. Despite ongoing controversy, surgical resection remains the most common and productive approach. In this patient, renal retroperitoneal lymph node dissection and radical nephrectomy of the left kidney were performed via laparoscopic surgery. The RCC-associated Xp11.2 translocation/TFE3 gene fusions were identified by postoperative pathology. Microscopic analysis showed the presence of intravascular cancer thrombus, renal sinus invasion, and cancer necrosis. The pathological stages were confirmed as PT3aN1M0 with a negative margin. Follow-up at 5 months showed that the patient recovered without the use of any adjuvant treatments. Conclusion: Our study highlights the natural course, diagnosis, and treatment of RCC-associated Xp11.2 translocation/TFE3 gene fusions, especially the necessity of early surgery. This case may be a helpful reference for urologists in the treatment of similar cases. It also serves as a precautionary signal for patients who neglect the renal neoplasm.

Prognostic value of circulating long non-coding RNAs in colorectal cancer patients: a meta-analysis.

OBJECTIVES: This meta-analysis aimed to evaluate the prognostic significance of circulating long non-coding RNAs (lncRNAs) in colorectal cancer (CRC). METHODS: A comprehensive literature search was conducted in databases (Embase, Web of Science, PubMed, and Cochrane Library) up to July 2022. The quality of included studies was assessed using the Newcastle-Ottawa Scale (NOS). Statistical analysis was performed with Review Manager 5.4 and Stata 17.0. Publication bias was assessed using Begg's test, and sensitivity analysis was conducted to validate the meta-analysis results. RESULTS: Ten articles, comprising 1,473 CRC patients and 18 different circulating lncRNAs, were included. Thirteen circulating lncRNAs were found to be up-regulated in CRC patients, while five were down-regulated. High expression of circulating lncRNAs up-regulated in CRC patients was associated with shorter CRC OS (HR = 2.91, 95% CI: 1.17, 7.22; P = 0.02, I2 = 86%). Conversely, high expression of circulating lncRNAs down-regulated in CRC patients was linked to longer CRC OS (HR = 0.16, 95% CI: 0.07, 0.40; P < 0.0001, I2 = 0%) and improved DFS (HR = 0.52, 95% CI: 0.37, 0.74; P = 0.0002, I2 = 0%). Additionally, circulating lncRNA levels correlated with TNM staging, tumor location, and lymph node metastasis. CONCLUSION: Circulating lncRNAs show promise as prognostic markers for CRC patients, but further studies are warranted to validate these findings.

The role of peptidyl-prolyl isomerase Pin1 in neuronal signaling in epilepsy.

Epilepsy is a common symptom of many neurological disorders and can lead to neuronal damage that plays a major role in seizure-related disability. The peptidyl-prolyl isomerase Pin1 has wide-ranging influences on the occurrence and development of neurological diseases. It has also been suggested that Pin1 acts on epileptic inhibition, and the molecular mechanism has recently been reported. In this review, we primarily focus on research concerning the mechanisms and functions of Pin1 in neurons. In addition, we highlight the significance and potential applications of Pin1 in neuronal diseases, especially epilepsy. We also discuss the molecular mechanisms by which Pin1 controls synapses, ion channels and neuronal signaling pathways to modulate epileptic susceptibility. Since neurotransmitters and some neuronal signaling pathways, such as Notch1 and PI3K/Akt, are vital to the nervous system, the role of Pin1 in epilepsy is discussed in the context of the CaMKII-AMPA receptor axis, PSD-95-NMDA receptor axis, NL2/gephyrin-GABA receptor signaling, and Notch1 and PI3K/Akt pathways. The effect of Pin1 on the progression of epilepsy in animal models is discussed as well. This information will lead to a better understanding of Pin1 signaling pathways in epilepsy and may facilitate development of new therapeutic strategies.

Ependymoblastoma with pulmonary metastasis in an adolescent: A case report.

Ependymoblastoma is a rare embryonal neoplasm of the nervous system, and the entity is even rare with distant metastasis. This case can help refine the existing literature and provide lessons for the management of other patients with ependymoblastoma. The present case concerns an adolescent with supratentorial ependymoblastoma, who received gross-total resection (GTR), postoperative radiotherapy, and six cycles of chemotherapy, with disease-free survival (DFS) of about 5.3 years. Subsequently, pulmonary metastasis occurred, but no intracranial lesion was found. Finally, combined treatment with radiotherapy and chemotherapy significantly reduced the lung lesions, with progression-free survival (PFS) of 10 months and long-term survival of 6.3 years. This case indicates that the lung metastases of ependymoblastoma are relatively sensitive to radiation, but lung metastases have not completely disappeared. Perhaps, increasing the radiation dose to lung metastases can improve the efficacy, which is worth exploring.

The Pin1-CaMKII-AMPA Receptor Axis Regulates Epileptic Susceptibility.

Pin1 is a unique isomerase that regulates protein conformation and function after phosphorylation. Pin1 aberration contributes to some neurological diseases, notably Alzheimer's disease, but its role in epilepsy is not fully understood. We found that Pin1-deficient mice had significantly increased seizure susceptibility in multiple chemical inducing models and developed age-dependent spontaneous epilepsy. Electrophysiologically, Pin1 ablation enhanced excitatory synaptic transmission to prefrontal cortex (PFC) pyramidal neurons without affecting their intrinsic excitability. Biochemically, Pin1 ablation upregulated AMPA receptors and GluA1 phosphorylation by acting on phosphorylated CaMKII. Clinically, Pin1 was decreased significantly, whereas phosphorylated CaMKII and GluA1 were increased in the neocortex of patients with epilepsy. Moreover, Pin1 expression restoration in the PFC of Pin1-deficient mice using viral gene transfer significantly reduced phosphorylated CaMKII and GluA1 and effectively suppressed their seizure susceptibility. Thus, Pin1-CaMKII-AMPA receptors are a novel axis controlling epileptic susceptibility, highlighting attractive new therapeutic strategies.