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Fibrosis , N-Metiltransferasa de Histona-Lisina , Neoplasias Renales , Mitocondrias , Humanos , N-Metiltransferasa de Histona-Lisina/metabolismo , N-Metiltransferasa de Histona-Lisina/genética , Riñón/patología , Riñón/metabolismo , Neoplasias Renales/patología , Neoplasias Renales/metabolismo , Neoplasias Renales/genética , Mitocondrias/metabolismo , Mitocondrias/patología , Proteínas Represoras/metabolismo , Proteínas Represoras/genéticaAsunto(s)
Receptores de Factor Estimulante de Colonias de Granulocitos y Macrófagos , Humanos , Animales , Receptores de Factor Estimulante de Colonias de Granulocitos y Macrófagos/antagonistas & inhibidores , Receptores de Factor Estimulante de Colonias de Granulocitos y Macrófagos/metabolismo , Receptores de Factor Estimulante de Colonias de Granulocitos y Macrófagos/genética , Transducción de Señal/efectos de los fármacos , Receptor de Factor Estimulante de Colonias de MacrófagosRESUMEN
The present study investigates the clinical relevance of glycolytic factors, specifically PGAM1, in the tumor microenvironment of kidney renal clear cell carcinoma (KIRC). Despite the established role of glycolytic metabolism in cancer pathophysiology, the prognostic implications and key targets in KIRC remain elusive. We analyzed GEO and TCGA datasets to identify DEGs in KIRC and studied their relationship with immune gene expression, survival, tumor stage, gene mutations, and infiltrating immune cells. We explored Pgam1 gene expression in different kidney regions using spatial transcriptomics after mouse kidney injury analysis. Single-cell RNA-sequencing was used to assess the association of PGAM1 with immune cells. Findings were validated with tumor specimens from 60 KIRC patients, correlating PGAM1 expression with clinicopathological features and prognosis using bioinformatics and immunohistochemistry. We demonstrated the expression of central gene regulators in renal cancer in relation to genetic variants, deletions, and tumor microenvironment. Mutations in these hub genes were positively associated with distinct immune cells in six different immune datasets and played a crucial role in immune cell infiltration in KIRC. Single-cell RNA-sequencing revealed that elevated PGAM1 was associated with immune cell infiltration, specifically macrophages. Furthermore, pharmacogenomic analysis of renal cancer cell lines indicated that inactivation of PGAM1 was associated with increased sensitivity to specific small-molecule drugs. Altered PGAM1 in KIRC is associated with disease progression and immune microenvironment. It has diagnostic and prognostic implications, indicating its potential in precision medicine and drug screening.
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Carcinoma de Células Renales , Neoplasias Renales , Humanos , Animales , Ratones , Transcriptoma , Carcinoma de Células Renales/genética , Neoplasias Renales/genética , Riñón , Macrófagos , ARN , Microambiente Tumoral/genéticaRESUMEN
Currently, medication for benign prostate hyperplasia (BPH) and prostate cancer (PCa) are mainly based on modulating the hormone and nervous systems. However, side effects often affect patients, and might decrease their commitment to continuing the medication and lower their quality of life. Some studies have indicated that chronic inflammation might be the cause of BPH and PCa. Based on this hypothesis, the effect of phloretin, a potent anti-inflammatory and anti-oxidative flavonoid, has been researched since 2010. Results from animal and in-vitro studies, obtained from databases, also indicate that the use of phloretin in treating BPH and PCa is promising. Due to its effect on inflammatory cytokines, apoptosis or anti-apoptosis, reactive oxygen species, anti-oxidant enzymes and oxidative stress, phloretin is worthy of further study in human clinical trials regarding safety and effective dosages.
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BACKGROUND: Disseminated peritoneal leiomyomatosis (DPL) with myxoid leiomyosarcoma is a rare variant of leiomysosarcoma, and hematuria as a presenting symptom has never been reported. Through this case report, we emphasize the investigation of the etiology, clinical presentation, diagnosis, treatment, and prognosis of DPL with malignant changes mimicking metastatic urinary tract cancer and to help develop further clinical management. CASE SUMMARY: We describe a case of DPL with malignant transformation involving the right ureter after laparoscopic hysterectomy. An exploratory laparotomy was performed and all visible nodules were surgically removed. DPL with focal malignant transformation to myxoid leiomyosarcoma was confirmed based on pathology results. CONCLUSION: Professionals who preoperatively diagnose DPL with malignant change to myxoid leiomyosarcoma involving the genitourinary tract should consider symptoms of abdominal pain, hematuria, and imaging of disseminated pelvic tumors in women, especially those with prior history of laparoscopic hysterectomy. Early complete removal of all tumors is the cornerstone to prevent DPL from malignant changes.
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Mutations in the isocitrate dehydrogenase gene (IDH1) are involved in the progression of tumors. Although IDH1 has a role in various tumors, its clinical relevance and its expression in response to the immune response have not been investigated in prostate adenocarcinoma (PRAD). In the present study, we investigated the utility of IDH1 as a prognostic biomarker for PRAD by analyzing IDH1 mRNA expression and its association with patient survival and immune cell infiltration. IDH1 mRNA expression was significantly higher in PRAD tissue than in normal tissue, and Kaplan-Meier survival analysis showed that IDH1 expression was significantly associated with poor prognosis in PRAD patients. To elucidate the mechanisms involved, the correlation between IDH1 expression and the level of immune cell infiltration, in particular of immunosuppressive cells such as CD8+ T-cells, CD4+ T-cells, and macrophages, was further analyzed by single-cell RNA sequencing. We also screened a pharmacogenetic database for IDH1-specific drugs that inhibited high expression in PRAD. In the present study, we used a combination of databases to identify a significant correlation between IDH1 expression and cellular infiltration and to explain the mechanism by which IDH1 confers poor prognosis in PRAD, thus demonstrating the relevance of IDH1 expression as a prognostic biomarker with clinical utility in PRAD patients.
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Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome is an uncommon genetic condition featured by an inherited predisposition to generate PGLs. Surgical resection of all tumors is the standard treatment for excess adrenaline production and tendency for metastasis. Nowadays, there are few case reports that have mentioned the surgical technique for hereditary PGL/PCC syndromes, especially robot-assisted surgery. Herein we present a rare case of hereditary PGL/PCC syndromes treated by partial cystectomy and right adrenalectomy at the same time with modified dual docking robotic surgical technique. Our dual docking robotic technique is a feasible option for patients with hereditary PGL/PCC syndromes of synchronous tumors in bladder and adrenal gland. It could not only prevent from second surgery but be safely performed without compromising disease control.
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Foreign body penetration from the scrotum is not rare. If a large and sharp foreign body pierces through an existing wound, it likely must be extended to improve exposure. Therefore, many traumatologists attempt to minimize the surgical wound caused by the removal of the foreign body. We describe a case of a foreign object penetrating from the scrotum to anterior abdominal wall. Our novel surgical approach is safe and feasible to use and provides minimal scarring, thereby allowing rapid recovery.
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INTRODUCTION: Leiomyomatosis peritonealis disseminata (LPD) is a rare clinical condition that can be challenging to diagnose because its clinical features mimic other conditions. We present a case of LPD mimicking peritoneal carcinomatosis 13 years after laparoscopic uterine myomectomy using a power morcellator. The aim of this paper is to report a rare case which surgeons can learn from and to provide more clinical information for further studies to investigate LPD. PRESENTATION OF CASE: A 49-year-old woman was referred to us because sonography revealed abnormal abdominal and pelvic nodules. Thirteen years previously, she had undergone laparoscopic uterine myomectomy using a power morcellator. An exploratory laparotomy revealed nodules on the peritoneum, greater omentum, intestinal mesentery, and terminal ileum. We surgically removed all visible nodules and performed bilateral salpingo-oophorectomy. LPD was confirmed based on the morphology and immunohistochemistry results. DISCUSSION: Diagnosing LPD preoperatively may be difficult because its clinical manifestations resemble peritoneal carcinomatosis or metastatic lesions. Abdominal pain due to diffuse tumor growth is a common manifestation. LPD degenerating into malignancy is rare, but possible. The probable etiological factors, clinical manifestations, and treatment options which may aid when dealing with LPD have been described in this report. CONCLUSION: LPD should be considered in women, particularly those with a history of gynecologic surgery presenting with disseminated intraabdominal or pelvic tumors.
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Bladder pheochromocytoma is a rare tumor. The typical manifestations are hematuria, hypertension, headache, sweating, and tachycardia provoked by micturition or overdistention of the bladder. We herein report a case of bladder pheochromocytoma in a 52-year-old woman who presented without micturition attacks. Her clinical course had a latent period of 10 years. A urinary bladder tumor was found incidentally on magnetic resonance imaging. Cystoscopy revealed a large submucosal tumor covered by congested urothelium with a broad base over the left lateral wall of the bladder. Transurethral resection was performed, and the final diagnosis was confirmed by pathological analysis. The patient remained recurrence free after 7-year follow-up.