Publications by authors named "Marilina Nantron"
Whereas 90% of patients with Wilms tumor (WT) reach cure, approximately half of patients developing a recurrent tumor die of the disease. Therefore, to disclose events leading to recurrence represents a clinical need. To study paired primary/recurrent tumor samples, being aware of the intra-tumoral heterogeneity, might help finding these answers.
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- Wilms tumour (WT) is the most common malignant kidney tumor in children, characterized by significant genetic and epigenetic diversity, particularly involving 11p15 chromosome imprinting and various gene mutations.
- An analysis of 96 WT samples revealed new potential gene candidates linked to WT development, including notable focal regions and hotspot mutations, with a specific mutation found in 7.3% of cases.
- The study further identified rare missense and splicing mutations, most occurring at the germline level, and significant promoter methylation in a large percentage of cases, contributing to the understanding of genetic factors influencing WT susceptibility.
Purpose: TW2003, the third Italian prospective study on Wilms tumor, aimed to improve survival in patients with stage III-IV tumors, de-escalate therapy for stage I-II nonanaplastic tumors, refine the risk stratification of therapy, and develop a national infrastructure for biobanking and central pathology review.
Materials And Methods: TW2003 recruited children 18 years old or younger with primary intrarenal tumors. Local physicians chose nephrectomy with or without preoperative chemotherapy as the initial treatment based on the risk of unsafe and/or incomplete immediate surgery.
Background: Children with Wilms' tumor (WT) aged under 24 months (infants) have a better prognosis than older patients. Our aim was to study the epidemiology of this age group, with focus on the modality of diagnosis, tumor size, and association with malformations/syndromes, seeking to understand if any of these factors might be related to prognosis.
Patients And Methods: Infants diagnosed with WT between 2003 and February 2010 were evaluated.
Background: Five to 10 % of children with neuroblastoma present with symptoms of epidural compression (EC). More than half these patients are diagnosed in the first year of life. The case of a neuroblastoma presenting symptoms of EC at birth is exceptional and deserves to be reported.
View Article and Find Full Text PDFPurpose: Clear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor that is frequently difficult to distinguish among other childhood renal tumors due to its histological heterogeneity. This work evaluates genetic abnormalities carried by a series of CCSK samples by whole transcriptome sequencing (WTS), to identify molecular biomarkers that could improve the diagnostic process.
Methods: WTS was performed on tumor RNA from 8 patients with CCSK.
Purpose: The specific aims of the AIEOP-TW-2003 protocol included prospectively investigating a possible association of tumor loss of heterozygosity with outcomes in children treated for Wilms tumor.
Materials And Methods: We analyzed 125 unilateral favorable histology Wilms tumors registered between 2003 and 2008 in the Italian cooperative protocol for microsatellite markers mapped to chromosomes 1p, 7p, 11q, 16q and 22q.
Results: The 3-year disease-free survival and overall survival probabilities were 0.
Despite the excellent survival rate of Wilms tumor (WT) patients, only approximately one-half of children who suffer tumor recurrence reach second durable remission. This underlines the need for novel markers to optimize initial treatment. We investigated 77 tumors using Illumina 370CNV-QUAD genotyping BeadChip arrays and compared their genomic profiles to detect copy number (CN) abnormalities and allelic ratio anomalies associated with the following clinicopathological variables: relapse (yes vs.
View Article and Find Full Text PDFPurpose: We analyzed whether the prognosis can differ among Wilms tumors (WT) labeled as Stage III according to currently adopted classification systems.
Methods And Materials: Patients with nonanaplastic Stage III WT consecutively registered in two Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) trials (CNR-92, TW-2003) were the subjects in the present analysis. The steady mainstay of therapy was primary nephrectomy, followed by three-drug chemotherapy with vincristine, dactinomycin, doxorubicin, and abdominal radiotherapy (RT).
Goals Of Work: The goal of this study was to describe the incidence of Clostridium difficile-associated disease (CDAD) in children with solid tumours.
Patients And Methods: After documentation of a case of C. difficile-associated pseudomembranous colitis in a patient with neuroblastoma, the presence of C.