AI Article Synopsis
Article Abstract
Wilms tumor (WT), or nephroblastoma, is an uncommon malignant neoplasm occurring in the kidney of pediatric patients. Its extrarenal location is extremely rare and has been reported in various sites, including the female genital tract, with only 9 cases arising in the uterine corpus. We present the case of an adult woman who underwent total abdominal hysterectomy due to a uterine mass causing persistent abdominal pain. The characteristic triphasic morphology (composed of epithelial, stromal, and blastemal elements) supported by a broad immunohistochemical panel, along with the imaging exclusion of a renal neoplasm, was diagnostic of WT of the uterus. For the first time, a comprehensive genomic profiling of a uterine primary WT was also performed by next-generation sequencing, disclosing alterations at the level of copy number variations in the genes ERBB2, FGFR23, FGF6, FGFR2, and RPS6KB1. All previously reported uterine cases were reviewed, with a summary of their main clinicopathologic characteristics, and the main differential diagnoses are presented. Further reports are needed to improve our knowledge about prognostic factors, clinical behavior and molecular alterations that could guide appropriate therapeutic decision making.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10767795 | PMC |
| http://dx.doi.org/10.32074/1591-951X-943 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A distinct subgroup of AML resembling the APL immunophenotype is associated with DIC.
BMC Cancer
December 2024
Department of Hematology, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.
Background: The complexity of acute myeloid leukemia (AML) is increasingly recognized through the identification of distinct subgroups, including those with an APL-like immunophenotype characterized by the absence of CD34 and HLA-DR expression, which is widely recognized as a representative immunophenotype in acute promyelocytic leukemia (APL). This study sought to understand the clinical, molecular, and prognostic differences between AML patients with and without this phenotype.
Methods: This study retrospectively analysed 191 de novo non-M3 AML patients and identified 32 patients with the CD34HLA-DR phenotype resembling APL-like immunophenotype, considered as the experimental group.
Bilateral Wilms Tumor - Case Report of a Patient with Family History.
Appl Clin Genet
December 2024
Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland.
Wilms' tumor (WT) is the most common renal neoplasm in children. Despite its rapid growth, it is often asymptomatic. It most commonly occurs between the ages of 3 and 5, more frequently in girls.
View Article and Find Full Text PDFRhabdoid Tumor of the Kidney and Soft Tissues: Results from National Wilms Tumor Study-5 and Children's Oncology Group Study AREN0321.
Pediatr Blood Cancer
December 2024
Division of Oncology, Children's National Hospital and Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.
Purpose: National Wilms Tumor Study-5 (NWTS-5) and AREN0321 evaluated the outcomes of children with rhabdoid tumor of the kidney (RTK) and malignant rhabdoid tumor of soft tissues (MRT).
Patients And Methods: Eligible patients with RTK were enrolled prospectively on NWTS-5 (1995-2002) and treated with carboplatin and etoposide alternating with cyclophosphamide (Regimen RTK). Patients with RTK or MRT were enrolled on AREN0321 (2005-2012) and received vincristine, doxorubicin, and cyclophosphamide alternating with carboplatin, cyclophosphamide, and etoposide (Regimens UH-1 or dose-reduced Revised UH-1).
A novel nephrometry scoring system outperforms RENAL score, PADUA score, and SPARE score for feasibility prediction of nephron-sparing surgery in children with bilateral Wilms tumor.
Quant Imaging Med Surg
December 2024
Department of Urology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Background: Several nephrometry scores have been proposed and applied in the adult population. We previously established a novel model to predict the feasibility of nephron-sparing surgery (NSS) in pediatric bilateral Wilms tumor (WT) patients. This study aimed to evaluate whether our model had better predictive performance compared to other scores.
View Article and Find Full Text PDFClinical Characterization of a National Cohort of Patients With Germline Variants Including Late-Onset Phenotypes.
Kidney Int Rep
December 2024
Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
Introduction: disorder is a recently introduced term for phenotypes associated with germline Wilms Tumor 1 () variants, including glomerulopathy, urogenital anomalies, and Wilms tumor. Previous studies showed a bias toward missense variants in the DNA-binding/Zinc-finger domain of (exon 8 and 9) and patients with early-onset glomerulopathy. Thorough genotype-phenotype correlations including follow-up data on late-onset glomerulopathy risk are lacking.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!