Search Results (8)

Background: Congenital renal masses in neonates are most commonly congenital mesoblastic nephroma or, less frequently, or Wilms tumor. We describe a neonate with an apparent primary renal tumor that proved to be adrenal neuroblastoma infiltrating the kidney, highlighting diagnostic pitfalls in this subgroup of patients. Methods: We retrospectively reviewed the diagnostic work-up, histopathology, genomic profiling, treatment, and outcome of a term neonate in whom a renal mass was detected incidentally on ultrasound. Results: Ultrasound and MRI showed a 2 cm solid lesion centered in the upper pole of the left kidney, interpreted as nephroblastomatosis/early Wilms tumor. Left nephrectomy with adrenalectomy revealed stroma-poor, undifferentiated neuroblastoma with regional node involvement and multiple segmental chromosomal aberrations, including 1p and 3p loss, but no MYCN or ALK alterations. Initial management consisted of surgery alone with close surveillance. Within weeks, early disseminated relapse with bone and soft-tissue metastases occurred, necessitating escalation to high-risk, COJEC-based chemotherapy; resection of residual mass; and modified consolidation without high-dose chemotherapy or radiotherapy. The child remains in complete remission with preserved renal function. Conclusions: Neuroblastoma should be considered in the differential diagnosis of congenital “renal” masses. Imaging-driven provisional diagnoses may be misleading, and genomic risk profiling may help lower the threshold for systemic therapy in selected cases. Full article

Aim of the Study: To assess how virtual reality (VR) patient-specific simulations can support decision-making processes and improve care in pediatric urology, ultimately improving patient outcomes. Patients and Methods: Children diagnosed with urological conditions necessitating complex procedures were retrospectively reviewed and enrolled in the study. Patient-specific VR simulations were developed with medical imaging specialists and VR technology experts. Routine CT images were utilized to create a VR environment using advanced software platforms. The accuracy and fidelity of the VR simulations was validated through a multi-step process. This involved comparing the virtual anatomical models to the original medical imaging data and conducting feedback sessions with pediatric urology experts to assess VR simulations’ realism and clinical relevance. Results: A total of six pediatric patients were reviewed. The median age of the participants was 5.5 years (IQR: 3.5–8.5 years), with an equal distribution of males and females across both groups. A minimally invasive laparoscopic approach was performed for adrenal lesions (n = 3), Wilms’ tumor (n = 1), bilateral nephroblastomatosis (n = 1), and abdominal trauma in complex vascular and renal malformation (ptotic and hypoplastic kidney) (n = 1). Key benefits included enhanced visualization of the segmental arteries and the deep vascularization of the kidney and adrenal glands in all cases. The high depth perception and precision in the orientation of the arteries and veins to the parenchyma changed the intraoperative decision-making process in five patients. Preoperative VR patient-specific simulation did not offer accuracy in studying the pelvic and calyceal anatomy. Conclusions: VR patient-specific simulations represent an empowering tool in pediatric urology. By leveraging the immersive capabilities of VR technology, preoperative planning and intraoperative navigation can greatly impact surgical decision-making. As we continue to advance in medical simulation, VR holds promise in educational programs to include even surgical treatment of more complex urogenital malformations. Full article

Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney. Chemotherapy and bilateral nephron-sparing surgery (NSS) for Wilms tumor with nephroblastomatosis was carried out. The patient also had eye affection, including glaucoma, eye enlargement, megalocornea, severe corneal swelling and opacity, complete aniridia, and nystagmus. The diagnosis of WAGR syndrome was suspected. De novo complex chromosomal rearrangement with balanced translocation t(10,11)(p15;p13) and a pericentric inversion inv(11)(p13q12), accompanied by two adjacent 11p14.1p13 and 11p13p12 deletions, were identified. Deletions are raised through the complex molecular mechanism of two subsequent rearrangements affecting chromosomes 11 and 10. WAGR syndrome diagnosis was clinically and molecularly confirmed, highlighting the necessity of comprehensive genetic testing in patients with congenital aniridia and/or WAGR syndrome. Full article

Wilms’ tumor (WT) is the most common renal malignancy in children. In diffuse hyperplastic perilobar nephroblastomatosis (DHPLN), nephrogenic rests result in a bulky enlargement of the kidney, a condition considered as a premalignant state before WT. Despite relevant clinical differences between WT and DHPLN, they are often challenging to distinguish based on histology. Molecular markers would improve differential diagnosis, but none are available at present. In our study, we investigated the potential of microRNAs (miRNAs) as such biomarkers, also aiming to shed light on the chronological order of expression changes. Formalin-fixed, paraffin-embedded (FFPE) samples from four DHPLN cases and adjacent healthy tissues were tested using a PCR array containing primers for 84 miRNAs implicated in genitourinary cancer. Expression in DHPLN was compared to WT data available in dbDEMC. Let-7, miR-135, miR-146a-5p, miR-182-5p, miR-183-5p, miR-20b-3p, miR-29b-3p, miR-195-5p and miR-17-5p showed potential to be used as biomarkers to distinguish WT and DHPLN in cases when traditional differential diagnosis is inconclusive. Our study also revealed miRNAs which may play a role in the initial steps of the pathogenesis (at a precancerous stage) and ones which become deregulated later in WT. More experiments are needed to confirm our observations and find new candidate markers. Full article

Objective: To review somatic genetic changes in nephrogenic rests (NR), which are considered to be precursor lesions of Wilms tumors (WT). Methods: This systematic review is written according to the PRISMA statement. PubMed and EMBASE were systematically searched for articles in the English language studying somatic genetic changes in NR between 1990 and 2022. Results: Twenty-three studies were included in this review, describing 221 NR of which 119 were pairs of NR and WT. Single gene studies showed mutations in WT1 and WTX, but not CTNNB1 to occur in both NR and WT. Studies investigating chromosomal changes showed loss of heterozygosity of 11p13 and 11p15 to occur in both NR and WT, but loss of 7p and 16q occurred in WT only. Methylome-based studies found differential methylation patterns between NR, WT, and normal kidney (NK). Conclusions: Over a 30-year time frame, few studies have addressed genetic changes in NR, likely hampered by technical and practical limitations. A limited number of genes and chromosomal regions have been implicated in the early pathogenesis of WT, exemplified by their occurrence in NR, including WT1, WTX, and genes located at 11p15. Further studies of NR and corresponding WT are urgently needed. Full article

Survival of unilateral Wilms tumors (WTs) is exceeding 90%, whereas bilateral WTs have an inferior outcome. We evaluated all Dutch patients with bilateral kidney tumors, treated in the first five years of national centralization and reviewed relevant literature. We identified 24 patients in our center (2015–2020), 23 patients had WT/nephroblastomatosis and one renal cell carcinoma. Patients were treated according to SIOP-RTSG protocols. Chemotherapy response was observed in 26/34 WTs. Nephroblastomatosis lesions were stable (n = 7) or showed response (n = 18). Nephron-sparing surgery was performed in 11/22 patients undergoing surgery (n = 2 kidneys positive margins). Local stage in 20 patients with ≥1 WT revealed stage I (n = 7), II (n = 4) and III (n = 9). Histology was intermediate risk in 15 patients and high risk in 5. Three patients developed a WT in a treated nephroblastomatosis lesion. Two of 24 patients died following toxicity and renal failure, i.e., respectively dialysis-related invasive fungal infection and septic shock. Genetic predisposition was confirmed in 18/24 patients. Our literature review revealed that knowledge is scarce on bilateral renal tumor patients with metastases and that radiotherapy seems important for local stage III patients. Bilateral renal tumors are a therapeutic challenge. We describe management and outcome in a national expert center and summarized available literature, serving as baseline for further improvement of care. Full article

(1) Background: about 10% of Wilms Tumor (WT) patients have a malformation or cancer predisposition syndrome (CPS) with causative germline genetic or epigenetic variants. Knowledge on CPS is essential for genetic counselling. (2) Methods: this retrospective analysis focused on 2927 consecutive patients with WTs registered between 1989 and 2017 in the SIOP/GPOH studies. (3) Results: Genitourinary malformations (GU, N = 66, 2.3%), Beckwith-Wiedemann spectrum (BWS, N = 32, 1.1%), isolated hemihypertrophy (IHH, N = 29, 1.0%), Denys-Drash syndrome (DDS, N = 24, 0.8%) and WAGR syndrome (N = 20, 0.7%) were reported most frequently. Compared to others, these patients were younger at WT diagnosis (median age 24.5 months vs. 39.0 months), had smaller tumors (349.4 mL vs. 487.5 mL), less often metastasis (8.2% vs. 18%), but more often nephroblastomatosis (12.9% vs. 1.9%). WT with IHH was associated with blastemal WT and DDS with stromal subtype. Bilateral WTs were common in WAGR (30%), DDS (29%) and BWS (31%). Chemotherapy induced reduction in tumor volume was poor in DDS (0.4% increase) and favorable in BWS (86.9% reduction). The event-free survival (EFS) of patients with BWS was significantly (p = 0.002) worse than in others. (4) Conclusions: CPS should be considered in WTs with specific clinical features resulting in referral to a geneticist. Their outcome was not always favorable. Full article