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1.
Ann Surg Oncol ; 2024 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-39222300

RESUMEN

INTRODUCTION: Total nephrectomies for the treatment of Wilms' tumor (WT) are more and more performed by laparoscopy, although indications for this approach following the UMBRELLA guidelines are currently very restrictive. The purpose of this study was to assess the compliance to the criteria of the UMBRELLA protocol for minimally invasive approach of WT. METHODS: This retrospective multicenter study included children operated on by laparoscopic total nephrectomy for suspected WT before 2020. Imaging was reviewed centrally. RESULTS: Fifty-six patients (50 WT and 6 nephrogenic rests) were operated on at a median age of 3.3 ± 2.6 years. Thirteen (23%) patients had metastasis at diagnosis. The mean operative time was 213 ± 84 min. There were eight (14.3%) conversions and five peroperative complications. A local stage III was confirmed in seven (12.5%) cases, including two for tumor rupture. Only one (1.8%) of the procedures followed the SIOP-UMBRELLA indications for laparoscopy. The criterion "ring of normal parenchyma" was met only once. Conservative surgery seemed possible in ten (17.9%) cases. The extension of the tumor beyond the ipsilateral edge of the vertebra after chemotherapy and a volume over 200 mL were associated with an increased risk of conversion (p = 0.0004 and p = 0.001 respectively). After a mean follow-up of 5.2 ± 4.0 years, although there was no local recurrence, one death occurred due to metastatic progression at 15 months postoperatively. CONCLUSIONS: The laparoscopic approach of WT beyond the UMBRELLA recommendations was feasible with low risk of local recurrence. Its indications may be updated and validated.

2.
Cancer Biol Ther ; 25(1): 2386753, 2024 Dec 31.
Artículo en Inglés | MEDLINE | ID: mdl-39097778

RESUMEN

Nephroblastoma, an overexpressed gene (NOV) protein, plays an important role in proliferation, differentiation, angiogenesis, adhesion, invasion and tumorigenesis, but the function of amino-truncated NOV is different. This study is to investigate the role of amino-truncated NOV in the progression of bladder cancer. Using immunohistochemistry and Western blot analysis, we detected the amino-truncated NOV in bladder cancer, and statistical analysis was performed to estimate the association between the expression of amino-truncated NOV and the patient's prognosis by SPSS 19.0. With transduction of amino-truncated NOV, we evaluated alteration for proliferation, migration, invasion and chemoresistance in bladder cancer cells, as well as some proteins related to Wnt/ß-catenin pathway and epithelial-mesenchymal transition. The truncated variant of the NOV protein was located in a nucleus other than the cytoplasm and highly expressed in bladder cancer, which was also linked to higher pathological grade and positive lymph node metastasis as well as recurrence. The exact sequence of this truncated protein was confirmed, and it was a 26-kDa splicing. The truncated NOV protein found in bladder cancer was cut at the 187th amino acid of the full-length protein. It was also involved in bladder cancer progression and chemoresistance through a mechanism involving epithelial-mesenchymal transition (EMT) and the Wnt/ß-catenin signaling pathway. Our findings provide experimental evidence that the nuclear NOV protein expression is a potential biomarker in the prognostic evaluation of bladder cancer and enhanced amino-truncated NOV expression is potentially important for bladder cancer cell invasion, metastasis and chemoresistance during progression.


Asunto(s)
Resistencia a Antineoplásicos , Neoplasias de la Vejiga Urinaria , Humanos , Neoplasias de la Vejiga Urinaria/patología , Neoplasias de la Vejiga Urinaria/genética , Neoplasias de la Vejiga Urinaria/metabolismo , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Neoplasias de la Vejiga Urinaria/mortalidad , Pronóstico , Resistencia a Antineoplásicos/genética , Masculino , Femenino , Persona de Mediana Edad , Transición Epitelial-Mesenquimal/genética , Línea Celular Tumoral , Proliferación Celular , Anciano , Metástasis de la Neoplasia , Vía de Señalización Wnt , Movimiento Celular , Biomarcadores de Tumor/metabolismo , Biomarcadores de Tumor/genética
3.
Case Rep Oncol ; 17(1): 818-830, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39144242

RESUMEN

Introduction: Nephroblastoma, or Wilms' tumor, is a malignant renal neoplasm commonly found in children, is extremely rare in adults representing only 0.5% of all renal neoplasms. Adult Wilms tumor is rare, to our knowledge fewer than 300 cases have been reported in the English literature to date. However, in older adults after 60 years of age, only less than 45 cases have been reported. For this reason, treatment guidelines in adults still are lacking. Prognosis in nephroblastoma for adult patients is found to be worse than in children. Case Presentation: We report the case of a 65-year-old female with lumbar fossa mass, flank pain and hematuria, and pathologic diagnosis of Wilms tumor. We performed nephrectomy. No adjuvant treatment was given. Our patient remains asymptomatic and without evidence of recurrence 12 months after the surgery. Conclusion: Nephroblastoma in the elderly presents different clinical behavior and prognosis compared to nephroblastoma in children.

4.
Pediatr Blood Cancer ; : e31300, 2024 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-39198982

RESUMEN

BACKGROUND: Wilms tumour (WT) is one of the cancer types targeted by the Global Initiative for Childhood Cancer (GICC). The objective of this study was to describe the outcomes of Wilms Africa Phase II in sub-Saharan Africa. METHODS: Wilms Africa Phase II used a comprehensive WT treatment protocol in a multi-centre, prospective study conducted in eight hospitals in Ethiopia (2), Ghana (2), Malawi, Cameroon, Zimbabwe and Uganda. Eligibility criteria were: age younger than 16 years, unilateral WT, diagnosed between 1 January 2021 and 31 December 2022. RESULTS: We included 230 WT patients, median age 3 years, 53% male. Median maximum tumour diameter at diagnosis was 13.6 cm and 33% of patients had metastatic disease. Nephrectomy was performed in 71% of patients, of whom 21% had a tumour rupture. Two-year event-free survival (EFS) was 41.3% ± 3.9% after a median follow-up of 17 months (range: 1-33 months), with treatment abandonment considered an event. Treatment abandonment occurred in 26% and death during treatment in 14%. Disease relapse occurred in 10%. Two-year EFS of the 26 patients who received radiotherapy was 64.5% ± 9.7% with no reported disease relapse. CONCLUSION: Patients continue to present late with advanced WT in sub-Saharan Africa, and their survival is below the 60% GICC target. Prevention of treatment abandonment and treatment-related mortality remain important. Earlier diagnosis and access to radiotherapy are expected to decrease disease-related mortality.

5.
Children (Basel) ; 11(8)2024 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-39201831

RESUMEN

Wilms tumor (WT) is the most common kidney tumor in pediatric patients. Intravascular extension of WT above the level of the renal veins is a rare manifestation that complicates surgical management. Patients with intravascular extension are frequently asymptomatic at diagnosis, and tumor thrombus extension is usually diagnosed by imaging. Neoadjuvant chemotherapy is indicated for thrombus extension above the level of the hepatic veins and often leads to thrombus regression, obviating the need for cardiopulmonary bypass in cases of cardiac thrombus at diagnosis. In cases of tumor extension to the retrohepatic cava, neoadjuvant therapy is not strictly indicated, but it may facilitate the regression of tumor thrombi, making resection safer. Hepatic vascular isolation and cardiopulmonary bypass increase the risk of bleeding and other complications when utilized for tumor thrombectomy. Fortunately, WT patients with vena caval with or with intracardiac extension have similar overall and event-free survival when compared to patients with WT without intravascular extension when thrombectomy is successfully performed. Still, patients with metastatic disease at presentation or unfavorable histology suffer relatively poor outcomes. Dedicated pediatric surgical oncology and pediatric cardiothoracic surgery teams, in conjunction with multimodal therapy directed by a multidisciplinary team, are preferred for optimized outcomes in this patient population.

6.
Pediatr Blood Cancer ; 71(10): e31230, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39085996

RESUMEN

BACKGROUND: Concomitant Wilms tumor (WT) and autosomal dominant polycystic kidney disease (ADPKD) is exceedingly rare, presenting a diagnostic and technical challenge to pediatric surgical oncologists. The simultaneous workup and management of these disease processes are incompletely described. PROCEDURE: We performed a retrospective analysis of patients treated at our institution with concomitant diagnoses of WT and ADPKD. We also review the literature on the underlying biology and management principles of these conditions. RESULTS: We present three diverse cases of concomitant unilateral WT and ADPKD who underwent nephrectomy. One patient had preoperative imaging consistent with ADPKD with confirmatory testing postoperatively, one was found to have contralateral renal cysts intraoperatively with confirmatory imaging post nephrectomy, and one was diagnosed in childhood post nephrectomy. All patients are alive at last follow-up, and the patient with longest follow-up has progressed to end-stage kidney failure requiring transplantation and dialysis in adulthood. All patients underwent germline testing and were found to have no cancer predisposition syndrome or pathogenic or likely pathogenic variants for WT. CONCLUSION: Concomitant inheritance of ADPKD and development of WT are extremely rare, and manifestations of ADPKD may not present until late childhood or adulthood. ADPKD is not a known predisposing condition for WT. When ADPKD diagnosis is made by family history, imaging, and/or genetic testing before WT diagnosis and treatment, the need for extensive preoperative characterization of cystic kidney lesions in children and increased risk of post-nephrectomy kidney failure warrant further discussion of surgical approach and perioperative management strategies.


Asunto(s)
Neoplasias Renales , Riñón Poliquístico Autosómico Dominante , Tumor de Wilms , Preescolar , Femenino , Humanos , Masculino , Neoplasias Renales/patología , Neoplasias Renales/complicaciones , Nefrectomía , Riñón Poliquístico Autosómico Dominante/complicaciones , Riñón Poliquístico Autosómico Dominante/patología , Estudios Retrospectivos , Tumor de Wilms/patología , Tumor de Wilms/complicaciones
7.
Khirurgiia (Mosk) ; (7): 61-72, 2024.
Artículo en Ruso | MEDLINE | ID: mdl-39008698

RESUMEN

OBJECTIVE: To present the experience of laparoscopic nephrectomies and kidney resections in children. MATERIAL AND METHODS: There were 28 minimally invasive surgeries for renal tumors between July 2015 and March 2023 (92 months). There were 16 (57%) boys and 12 (43%) girls who underwent 22 nephrectomies and 6 kidney resections. The median age of patients was 54 (38; 76.5) months. RESULTS: In the laparoscopic nephrectomy group, the median surgery time was 135 (108-188) min, blood loss - 10 (3.75-15) ml. Total resection was confirmed in all patients. In the group of minimally invasive kidney resections, these values were 182.5 (157.5; 265) min and 50 (42.5; 117.5) ml, respectively. Histological examination confirmed total resection in all patients. In both groups, none patient developed postoperative complications. Event-free survival was 86.72% with a median follow-up of 82 months, and local recurrence-free survival was 95.8% with a median follow-up of 89.8 months. CONCLUSION: Minimally invasive nephrectomies and resections are safe in children in case of careful patient selection.


Asunto(s)
Neoplasias Renales , Riñón , Laparoscopía , Nefrectomía , Humanos , Masculino , Femenino , Laparoscopía/métodos , Laparoscopía/efectos adversos , Nefrectomía/métodos , Nefrectomía/efectos adversos , Neoplasias Renales/cirugía , Neoplasias Renales/patología , Niño , Preescolar , Riñón/cirugía , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Tempo Operativo , Resultado del Tratamiento , Evaluación de Procesos y Resultados en Atención de Salud , Pérdida de Sangre Quirúrgica/estadística & datos numéricos , Federación de Rusia/epidemiología
8.
BMC Urol ; 24(1): 119, 2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38858693

RESUMEN

BACKGROUND: Wilms tumor (WT), also known as nephroblastoma, is rare in adults, accounting for merely 3% of all nephroblastomas or 0.2 cases per million individuals. Extrarenal Wilms tumor (ERWT) emerges outside the renal boundaries and comprises 0.5 to 1% of all WT cases, with even rarer incidences in adults. Oncogenic mutations associated with ectopic nephrogenic rests (NR) may contribute to ERWT development. Diagnosis involves surgical resection and pathology examination. Due to scarce cases, adults often rely on pediatric guidelines. We thoroughly searched PubMed, Scopus, and Web of Science databases to establish our case's uniqueness. To the best of our knowledge, this is the first documented incidence of extrarenal Wilms tumor within the spinal canal in the adult population. CASE PRESENTATION: A 22-year-old woman with a history of congenital lipo-myelomeningocele surgery as an infant presented with a 6-month history of back pain. This pain gradually resulted in limb weakness, paraparesis, and loss of bladder and bowel control. An MRI showed a 6 × 5 × 3 cm spinal canal mass at the L4-S1 level. Consequently, a laminectomy was performed at the L4-L5 level to remove the intramedullary tumor. Post-surgery histopathology and immunohistochemistry confirmed the tumor as ERWT with favorable histology without any teratomatous component. CONCLUSION: This report underscores the rarity of extrarenal Wilms tumor (ERWT) in adults, challenging conventional assumptions about its typical age of occurrence. It emphasizes the importance of clinical awareness regarding such uncommon cases. Moreover, the co-occurrence of spinal ERWTs and a history of spinal anomalies warrants further investigation.


Asunto(s)
Canal Medular , Tumor de Wilms , Humanos , Tumor de Wilms/cirugía , Femenino , Canal Medular/patología , Canal Medular/diagnóstico por imagen , Adulto Joven , Incidencia , Neoplasias Renales/cirugía , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico por imagen , Neoplasias de la Columna Vertebral/cirugía , Neoplasias de la Columna Vertebral/diagnóstico por imagen
9.
Pediatr Blood Cancer ; : e31134, 2024 Jun 19.
Artículo en Inglés | MEDLINE | ID: mdl-38896023

RESUMEN

BACKGROUND: Wilms tumour (WT) is one of the common and curable cancer types targeted by the Global Initiative for Childhood Cancer. Tumour excision is essential for cure. This analysis focuses on surgical outcomes of patients with WT in sub-Saharan Africa. METHODS: We implemented a risk-stratified WT treatment guideline as a multicentre, prospective study across eight hospitals and six countries. Eligibility criteria were age 6 months to 16 years, unilateral WT, surgery performed after preoperative chemotherapy and diagnosed between 1 January 2021 and 31 December 2022. Data collection included a specific surgical case report form (CRF). RESULTS: The study registered 230 patients, among whom 164 (71.3%) had a nephrectomy. Ninety-eight percent of patients had a completed surgical CRF. Out 164 patients, 50 (30.5%) had distant metastases. Median tumour diameter at surgery was 11.0 cm. Lymph node sampling was done in 122 (74.3%) patients, 34 (20.7%) had intraoperative tumour rupture, and for 18 (10.9%), tumour resection involved en bloc resection of another organ. Tumour size at surgery was significantly correlated with tumour rupture (p < .01). With a median follow-up of 17 months (range: 2-33), 23 (14.0%) patients have relapsed. Twenty-two (13.4%) patients abandoned treatment post nephrectomy. Two-year event-free survival was 60.4% ± 4.7% with treatment abandonment as an event. CONCLUSION: Survival post nephrectomy is challenged by treatment abandonment, treatment-related mortality and relapse. Large tumours after preoperative chemotherapy were associated with a higher risk of tumour rupture. Earlier diagnosis and access to radiotherapy are expected to improve survival.

10.
Pediatr Blood Cancer ; 71(8): e31069, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38773703

RESUMEN

BACKGROUND: The Wilms Africa studies implemented an adapted Wilm's tumor (WT) treatment protocol in sub-Saharan Africa in two phases. Phase I began with four sites and provided out-of-pocket costs. Phase II expanded the number of sites, but lost funding provision. Objective is to describe the outcomes of Phase II and compare with Phase I. METHODS: Wilms Africa Phase I (n = 4 sites; 2014-2018) and Phase II (n = 8 sites; 2021-2022) used adapted treatment protocols. Funding for families' out-of-pocket costs was provided during Phase I but not Phase II. Eligibility criteria were age less than 16 years and newly diagnosed unilateral WT. We documented patients' outcome at the end of planned first-line treatment categorized as treatment abandonment, death during treatment, and disease-related events (death before treatment, persistent disease, relapse, or progressive disease). Sensitivity analysis compared outcomes in the same four sites. RESULTS: We included 431 patients in Phase I (n = 201) and Phase II (n = 230). The proportion alive without evidence of disease decreased from 69% in Phase I to 54% in Phase II at all sites (p = .002) and 58% at the original four sites (p = .04). Treatment abandonment increased overall from 12% to 26% (p < .001), and was 20% (p = .04) at the original four sites. Disease-related events (5% vs. 6% vs. 6%) and deaths during treatment (14% vs. 14% vs. 17%) were similar. CONCLUSION: Provision of out-of-pocket costs was important to improve patient outcomes at the end of planned first-line treatment in WT. Prevention of treatment abandonment remains an important challenge.


Asunto(s)
Neoplasias Renales , Tumor de Wilms , Humanos , Tumor de Wilms/mortalidad , Tumor de Wilms/terapia , Tumor de Wilms/economía , África del Sur del Sahara/epidemiología , Femenino , Masculino , Neoplasias Renales/mortalidad , Neoplasias Renales/terapia , Neoplasias Renales/economía , Preescolar , Tasa de Supervivencia , Niño , Lactante , Adolescente , Pronóstico , Estudios de Seguimiento , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/economía
11.
Cancer Med ; 13(10): e7226, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38785181

RESUMEN

INTRODUCTION: Wilms tumor (WT) is the most common childhood kidney cancer. It is a rapid growing embryonal tumor in young children and can be diagnosed with and without tumor related symptoms. METHODS: We retrospectively analyzed the route to diagnosis of WT treated prospectively according to the SIOP 93-01/GPOH and 2001/GPOH in Germany between 1993 and 2022. Four routes were defined: diagnosis due to tumor-related symptoms, incidental diagnosis during another disease, diagnosis by preventive examinations, and diagnosis within a surveillance program. For these groups we compared clinical and tumor characteristics and outcome. RESULTS: Of 2549 patients with WT 1822 (71.5%) were diagnosed by tumor-related symptoms, 472 (18.5%) incidentally, 213 (8.4%) by preventive medical examinations, and 42 (1.6%) by surveillance. Age, general health status, tumor volume, and local and overall stage varied significantly between these groups. The youngest patients were those diagnosed by preventive medical examination (mean: 1.70 years). These patients also showed the best general health status. Tumor volume at diagnosis (549 mL) and after preoperative chemotherapy (255 mL) was significantly higher for children with tumor-related symptoms. The highest percentage of local stage I (78.6%) and the lowest percentage of metastatic disease (4.8%) was found in the surveillance group. The outcome of patients was not significantly different, with up to 19.0% relapses in the surveillance group and 3.0% deaths in the group with tumor-related symptoms. CONCLUSION: The route to diagnosis of WT correlates with age, general health status, tumor volume, and stage distribution, but does not impact the outcome of patients. Nonetheless, diagnosis without tumor related symptoms results in lower treatment burden and thus improved quality of life.


Asunto(s)
Neoplasias Renales , Tumor de Wilms , Humanos , Tumor de Wilms/diagnóstico , Tumor de Wilms/patología , Tumor de Wilms/terapia , Tumor de Wilms/mortalidad , Tumor de Wilms/epidemiología , Masculino , Femenino , Preescolar , Neoplasias Renales/diagnóstico , Neoplasias Renales/terapia , Neoplasias Renales/patología , Neoplasias Renales/mortalidad , Lactante , Estudios Retrospectivos , Niño , Alemania/epidemiología , Estadificación de Neoplasias , Carga Tumoral , Adolescente
12.
Nan Fang Yi Ke Da Xue Xue Bao ; 44(4): 727-738, 2024 Apr 20.
Artículo en Chino | MEDLINE | ID: mdl-38708507

RESUMEN

OBJECTIVE: To identify the key genes differentially expressed in Wilms tumor and analyze their potential impacts on prognosis and immune responses of the patients. METHODS: High-throughput RNA sequencing was used to identify the differentially expressed mRNAs in clinical samples of Wilms tumor and paired normal tissues, and their biological functions were analyzed using GO, KEGG and GSEA enrichment analyses. The hub genes were identified using STRING database, based on which a prognostic model was constructed using LASSO regression. The mutations of the key hub genes were analyzed and their impacts on immunotherapy efficacy was predicted using the cBioPortal platform. RT-qPCR was used to verify the differential expressions of the key hub genes in Wilms tumor. RESULTS: Of the 1612 differentially expressed genes identified in Wilms tumor, 1030 were up-regulated and 582 were down-regulated, involving mainly cell cycle processes and immune responses. Ten hub genes were identified, among which 4 genes (TP53, MED1, CCNB1 and EGF) were closely related to the survival of children with Wilms tumor. A 3-gene prognostic signature was constructed through LASSO regression analysis, and the patients stratified into with high- and low-risk groups based on this signature had significantly different survival outcomes (HR=1.814, log-rank P=0.002). The AUCs of the 3-, 5- and 7-year survival ROC curves of this model were all greater than 0.7. The overall mutations in the key hub genes or the individual mutations in TP53/CCNB1 were strongly correlated with a lower survival rates, and a high TP53 expression was correlated with a poor immunotherapy efficacy. RT-qPCR confirmed that the key hub genes had significant differential expressions in Wilms tumor tissues and cells. CONCLUSION: TP53 gene plays an important role in the Wilms tumor and may potentially serve as a new immunotherapeutic biomarker as well as a therapeutic target.


Asunto(s)
Neoplasias Renales , Tumor de Wilms , Humanos , Tumor de Wilms/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Pronóstico , Neoplasias Renales/genética , Genes del Tumor de Wilms , Microambiente Tumoral
13.
Ann Surg Oncol ; 31(7): 4713-4723, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38578552

RESUMEN

BACKGROUND: About 5% of Wilms tumors present with vascular extension, which sometimes extends to the right atrium. Vascular extension does not affect the prognosis, but impacts the surgical strategy, which is complex and not fully standardized. Our goal is to identify elements of successful surgical management of Wilms tumors with vascular extensions. PATIENTS AND METHODS: A retrospective study of pediatric Wilms tumors treated at three sites (January 1999-June 2019) was conducted. The inclusion criterion was the presence of a renal vein and vena cava thrombus at diagnosis. Tumor stage, pre and postoperative treatment, preoperative imaging, operative report, pathology, operative complications, and follow-up data were reviewed. RESULTS: Of the 696 pediatric patients with Wilms tumors, 69 (9.9%) met the inclusion criterion. In total, 24 patients (37.5%) had a right atrial extension and two presented with Budd-Chiari syndrome at diagnosis. Two died at diagnosis owing to pulmonary embolism. All patients received neoadjuvant chemotherapy and thrombus regressed in 35.6% of cases. Overall, 14 patients had persistent intra-atrial thrombus extension (58%) and underwent cardiopulmonary bypass. Most thrombi (72%) were removed intact with nephrectomy. Massive intraoperative bleeding occurred during three procedures. Postoperative renal insufficiency was identified as a risk factor for patient survival (p = 0.01). With a median follow-up of 9 years (range: 0.5-20 years), overall survival was 89% and event-free survival was 78%. CONCLUSIONS: Neoadjuvant chemotherapy with proper surgical strategy resulted in a survival rate comparable to that of children with Wilms tumors without intravascular extension. Clinicians should be aware that postoperative renal insufficiency is associated with worse survival outcomes.


Asunto(s)
Neoplasias Renales , Nefrectomía , Venas Renales , Tumor de Wilms , Humanos , Tumor de Wilms/cirugía , Tumor de Wilms/patología , Femenino , Masculino , Estudios Retrospectivos , Neoplasias Renales/cirugía , Neoplasias Renales/patología , Preescolar , Niño , Lactante , Estudios de Seguimiento , Tasa de Supervivencia , Pronóstico , Venas Renales/cirugía , Venas Renales/patología , Atrios Cardíacos/cirugía , Atrios Cardíacos/patología , Terapia Neoadyuvante , Vena Cava Inferior/patología , Vena Cava Inferior/cirugía
14.
Front Pediatr ; 12: 1322142, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38577638

RESUMEN

Background: Autosomal dominant polycystic kidney disease (ADPKD) is rare but one of the most common inherited kidney diseases. Normal kidney function is maintained until adulthood in most patients. About 7 in 10 patients with ADPKD develop kidney failure in the latter half of their fifth decade of life. Wilms' tumor, or nephroblastoma, is the most common malignant tumor stemming from kidney cells in the pediatric age group. This type of tumor is the most frequently occurring kidney malignancy in children between the ages of 0 and 5 years. The exact cause of Wilms' tumor is unknown, though about 10% of cases have a genetic predisposition. Wilms' tumor is one of the most successfully treated childhood oncological diseases. Overall, the 5-year survival rates were approximately 90% in both the National Wilms Tumor Study (NWTS) and Paediatric Oncology SIOP studies, showing similar results. Case presentation: We report a case of a girl diagnosed with autosomal polycystic kidney disease, who subsequently developed Wilms' tumor and underwent successful treatment with chemotherapy. Polycystic kidney disease was suspected in the fetus during prenatal ultrasound and confirmed after birth with ultrasound and genetic testing. The Wilms tumor was an accidental finding during abdominal MRI at the age of 2 years old to rule out liver pathology. Conclusion: Reports on whether a diagnosis of ADPKD is a risk factor for malignancy are conflicting. In this particular case, Wilms' tumor is present in the background of polycystic kidney disease and was timely diagnosed by an incidental MRI.

15.
Radiol Case Rep ; 19(6): 2545-2548, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38596178

RESUMEN

Nephroblastoma or Wilms' tumor is the most common malignant tumor of the kidney in the pediatric population. Metastasis is caused by hematogenous spread. The most common localizations in decreasing order of frequency are lymph nodes, lungs, and liver. The bone is very rarely affected. According to the literature, bone metastases have been described in the iliac bone, skull, and mandible. The vertebral localization was described in 3 cases only, the first 1 in 2009, and the 2 others in 2015 . The goal of our work is to report a very rare case of metastatic vertebral localization of a Wilms' tumor in relapse after treatment; and thus to underline the potential for vertebral and intracanal involvement in nephroblastoma.

16.
Radiol Case Rep ; 19(7): 2773-2780, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38680746

RESUMEN

Wilm's tumor (WT) accounted for the vast majority of renal tumors in children (92%). However, there are many atypical or rare forms of kidney cancer, and it is certainly useful to have a diagnostic orientation in imaging to differentiate between the different diagnoses, guiding that way the therapeutic management. We report the cases of 3 patients who were initially diagnosed with nephroblastoma on the basis of radiological data (via PACS search), underwent pre-operative chemotherapy and then nephrectomy, and whose anatomopathological evidence came back in favor of benign renal tumors. Nephroblastoma is the most common renal tumor in children, but other benign tumors should not be neglected, radiological signs that may point to this entity should be taken into account, so that neoadjuvant chemotherapy with its enfeebling side effects can be avoided.

17.
J Pediatr Surg ; 59(8): 1615-1618, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38508973

RESUMEN

BACKGROUND: Wilms' tumor is the most common renal tumor in children. OBJECTIVE: To correlate the percentage of necrosis and tumor volume change found in preoperative Contrast Enhance Computed Tomography (CECT) scan of the abdomen with post-operative histopathological findings of Wilms Tumor (WT). METHODS: In this prospective study from January 2020 to December 2022, out of 33 patients, 15 patients with unilateral localized WT (stage I, II, and III) treated according to SIOP UMBRELLA protocol 2016 were included. Bilateral, syndromic, and stage IV WT were excluded. The radiological response was measured in preoperative CECT by estimating the percentage of necrosis found in static images and compared with post-operative histopathological findings. Tumor volume changes were measured by comparing CECT at diagnosis and following chemotherapy. Tumor volume change was also compared with histology. RESULTS: There was a significant positive correlation between radiological response to necrosis with histology as per Pearson correlation. Significant positive correlation also found between volume changes on pre and post chemotherapy CECT with histology as per Spearman correlation. CONCLUSIONS: The changes in tumors during preoperative radiological evaluation and histologically confirmed necrosis are strongly related.


Asunto(s)
Neoplasias Renales , Necrosis , Tomografía Computarizada por Rayos X , Carga Tumoral , Tumor de Wilms , Humanos , Tumor de Wilms/patología , Tumor de Wilms/diagnóstico por imagen , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/cirugía , Estudios Prospectivos , Masculino , Preescolar , Femenino , Lactante , Niño , Estadificación de Neoplasias
18.
Discov Oncol ; 15(1): 87, 2024 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-38526609

RESUMEN

Wilms tumor (WT) is the most common malignancy of the genitourinary system in children. Currently, the Integration of single-cell RNA sequencing (scRNA-Seq) and Bulk RNA sequencing (RNA-Seq) analysis of heterogeneity between different cell types in pediatric WT tissues could more accurately find prognostic markers, but this is lacking. RNA-Seq and clinical data related to WT were downloaded from the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) database. Small nucleolar RNA host gene 15 (SNHG15) was identified as a risk signature from the TARGET dataset by using weighted gene co-expression network analysis, differentially expressed analysis and univariate Cox analysis. After that, the functional mechanisms, immunological and molecular characterization of SNHG15 were investigated at the scRNA-seq, pan-cancer, and RNA-seq levels using Gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), ESTIMATE, and CIBERSORT. Based on scRNA-seq data, we identified 20 clusters in WT and annotated 10 cell types. Integration of single-cell and spatial data mapped ligand-receptor networks to specific cell types, revealing M2 macrophages as hubs for intercellular communication. In addition, in vitro cellular experiments showed that siRNAs interfering with SNHG15 significantly inhibited the proliferation and migration of G401 cells and promoted the apoptosis of G401 cells compared with the control group. The effect of siRNAs interfering with SNHG15 on EMT-related protein expression was verified by Western blotting assay. Thus, our findings will improve our current understanding of the pathogenesis of WT, and they are potentially valuable in providing novel prognosis markers for the treatment of WT.

19.
Heliyon ; 10(6): e27654, 2024 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-38524550

RESUMEN

Background: Homeobox (HOX) A11 antisense RNA (HOXA11-AS) has been identified as a cancer promoting lncRNA and is overexpressed in nephroblastoma. However, how HOXA11-AS is regulated in a hypoxic inflammatory environment has not been studied. Methods: In this study, gene expression and epithelial-mesenchymal transition (EMT) ability were detected in the nephroblastoma cell line WiT49 under conditions of hypoxia and inflammation. Next, HOXA11-AS transcription factors were predicted by datasets and subsequently confirmed by CHIP-QPCR, EMSA, and dual-luciferase reporter assays. Moreover, the regulatory relationships of HOXA11-AS and its transcription factors were further confirmed by rescue experiments. Results: Our results showed that a hypoxic microenvironment promoted HOXA11-AS expression and nephroblastoma progression, induced EMT, and activated the Wnt signaling pathway. Combined hypoxia and inflammation had a more substantial effect on nephroblastoma than either hypoxia or inflammation alone. HIF-1α and C/EBPß were confirmed to be the transcription factors for HOXA11-AS. Silencing of HIF-1α or C/EBPß downregulated HOXA11-AS expression and suppressed EMT and the Wnt signaling pathway in nephroblastoma cells exposed to a hypoxic or inflammatory microenvironment. HOXA11-AS overexpression partly reversed the effect of HIF-1α or C/EBPß knockdown. Conclusion: We demonstrated that hypoxia/inflammation-induced upregulation of HIF-1α and C/EBPß promoted nephroblastoma EMT by improving HOXA11-AS transcription. HOXA11-AS might be a therapy target for nephroblastoma.

20.
Pathol Res Pract ; 256: 155254, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38460245

RESUMEN

Wilms' tumors (WTs) are the most common type of kidney tumor in children, and a negative outlook is generally associated with widespread anaplastic. MicroRNAs (miRNAs) are crucial in the development of WT by regulating the expression of specific genes. There is an increasing amount of research that connects the dysregulation of miRNAs to the development of various renal illnesses. The conditions encompassed are renal fibrosis, renal cancers, and chronic and polycystic kidney disease. Dysregulation of several important miRNAs, either oncogenic or tumor-suppressing, has been found in WT. The present state of knowledge on the involvement of dysregulated miRNAs in the progression of WT is summarized in this review.


Asunto(s)
Neoplasias Renales , MicroARNs , Tumor de Wilms , Niño , Humanos , MicroARNs/genética , MicroARNs/metabolismo , Tumor de Wilms/patología , Neoplasias Renales/patología , Riñón/patología , Transducción de Señal/genética
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