We report three cases of congenital medulloepithelioma, which is an extremely rare clinical pattern of a tumor rare by definition. The aim of this study is to underline the clinical features of advanced medulloepithelioma in newborns.
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Risk of developing neuroblastoma influenced by maternal stressful life events during pregnancy and congenital pathologies.
Pediatr Blood Cancer
February 2025
Pathology Department, Medical School, University of Valencia, Valencia, Spain.
Objective: A retrospective multicenter study to investigate the potential association between descriptive information related to pregnancy history and perinatal features and the risk of neuroblastoma (NB) in children.
Study Design: Data from 56 mothers during 105 pregnancies (56 cases of NB, 49 control siblings) were collected through face-to-face or telephone interviews with mothers of children diagnosed with NB, along with information extracted from Health System databases. Descriptive information related to (a) pregnancy history as maternal stressful life events with perceived distress during pregnancy, weight gain, alcohol and tobacco consumption, mode of delivery and gestational age; and (b) perinatal features as congenital pathologies, weight at birth and type of feeding were examined to identify potential risk factors for NB.
Dissecting the Impact of Genetic Background on Oncogenic Response to Radiation Exposure in the Mouse Model.
Cells
November 2024
Division of Biotechnologies, Italian National Agency for New Technologies, Energy and Sustainable Economic Development (ENEA), Via Anguillarese 301, 00123 Rome, Italy.
Medulloblastoma (MB) is a common primary brain cancer in children. The sonic hedgehog (SHH) pathway is indispensable for the normal development of the cerebellum, and MB is often caused by persistent SHH activation owing to mutations in pathway components. Patched1 () is the primary receptor for the SHH ligand and a negative regulator of the SHH signal transduction pathway.
View Article and Find Full Text PDFMeasurement of 3-O-methyldopa from dried plasma microsamples by high-resolution mass spectrometry: A tool for the diagnosis of patients with high-risk neuroblastoma.
Clin Chim Acta
January 2025
Unit of Biochemistry, Pharmacology and Newborn Screening, Central Laboratory of Analysis, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Risk assessment at diagnosis is crucial for neuroblastoma (NB) in order to address patients at high-risk to the most timely and appropriate treatments. 3-O-methyldopa (3-OMD), a direct metabolite of L-Dopa, is a promising biomarker of NB at diagnosis able to stratify high-risk patients.
Methods: We show the development and validation of a method for measuring 3-OMD from dried plasma samples (DPS) and plasma using liquid chromatography coupled with high resolution mass spectrometry (LC-HRMS) on a Thermo Fisher Scientific Orbitrap Exploris 120.
CE-UV method for the determination of catecholamine metabolites from baby pee-covered diapers.
J Chromatogr A
November 2024
Department of Analytical Chemistry, Faculty of Chemistry, Gdańsk University of Technology, G. Narutowicza 11/12, Gdańsk 80-233, Poland; BioTechMed Center, Research Centre, Gdańsk University of Technology, G. Narutowicza St. 11/12, Gdańsk 80-233, Poland. Electronic address:
A method has been developed for the analysis of vanillylmandelic acid, homovanillic acid, and 5-hydroxyindoleacetic acid from baby urine as biomarkers of neuroblastoma in infants. Disposable diapers were employed as sampling devices in order to guarantee a low invasiveness during this step. The proposed method consists on a simple extraction step with water from the used diaper followed by the measurement using capillary electrophoresis with UV detection.
View Article and Find Full Text PDFA subset of image-defined risk factors predict completeness of resection in children with high-risk neuroblastoma: An international multicenter study.
Pediatr Blood Cancer
October 2024
Department of Surgery, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
Background: Image-defined risk factors (IDRFs) were promulgated for predicting the feasibility and safety of complete primary tumor resection in children with neuroblastoma (NB). There is limited understanding of the impact of individual IDRFs on resectability of the primary tumor or patient outcomes. A multicenter database of patients with high-risk NB was interrogated to answer this question.
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