8,800 results match your criteria: "Childhood Cancer Genetics"

Various aggressive lymphomas entities have been associated with immunodeficiency. To provide further evidence that also MYC-negative high-grade B-cell (formerly Burkitt-like) lymphoma with 11q aberrations comprises an immunodeficiency-related subtype, we here conducted a comprehensive pathological and genetic workup of a 25-year-old patient with this type of lymphoma and simultaneous papillary renal cell carcinoma. The patient developed both malignancies following extensive childhood immunosuppression and a kidney transplant.

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Overview of the etiology of childhood cancer and future directions.

Curr Opin Pediatr

February 2025

Department of Pediatrics, Division of Hematology-Oncology.

Purpose Of Review: We provide an overview of the etiology of childhood cancer, the state of the literature, and highlight some opportunities for future research, including technological advancements that could be applied to etiologic studies of childhood cancer to accelerate our understanding.

Recent Findings: Risk factors of childhood cancer were summarized based on demographics and perinatal factors, environmental risk factors, and genetic risk factors. Overall, demographics and perinatal factors are the most well studied in relation to childhood cancer.

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Purpose Of Review: Pleuropulmonary blastoma (PPB) is a rare primary lung neoplasm of infancy and childhood. The purpose of this review is to highlight recent developments in our understanding of PPB and research strategies to facilitate future rare cancer research.

Recent Findings: The International PPB/DICER1 Registry has recently assembled the largest-ever cohorts of type I and Ir PPB and type II and III PPB.

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Purpose Of Review: With growing emphasis on data-driven research in pediatric oncology, particularly in the context of advances in molecular characterization and precision medicine, there is an urgent need for comprehensive data-sharing initiatives. This review explores how the Childhood Cancer Data Initiative (CCDI) addresses this critical need.

Recent Findings: CCDI plays a key role in enhancing pediatric cancer research by improving data integration, sharing, and collaboration.

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Background: Autism spectrum disorder (ASD) is a partially heritable neurodevelopmental trait, and people with ASD may also have other co-occurring trait such as ADHD, anxiety disorders, depression, mental health issues, learning difficulty, physical health traits and communication challenges. The concomitant development of ASD and other neurological traits is assumed to result from a complex interplay between genetics and the environment. However, only a limited number of studies have performed multivariate genome-wide association studies (GWAS) for ASD.

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Single-nucleotide variants (SNVs) are extremely prevalent in human cancers, although most of these remain clinically unactionable. The programmable RNA nuclease CRISPR-Cas13 has been deployed to specifically target oncogenic RNAs. However, silencing oncogenic SNVs with single-base precision remains extremely challenging due to the intrinsic mismatch tolerance of Cas13.

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Immune dysregulation in Inborn Errors of Immunity (IEI) shows a broad phenotype, including autoimmune disorders, benign lymphoproliferation, and malignancies, driven by an increasing number of implicated genes. Recent findings suggest that childhood cancer survivors (CCSs) may exhibit immunological abnormalities potentially linked to an underlying IEI, along with a well-known increased risk of subsequent malignancies due to prior cancer treatments. We describe a patient with two composite heterozygous pathogenic variants in the interleukin-2-inducible T-cell kinase () gene and a history of multiple tumors, including recurrent Epstein-Barr virus (EBV)-related nodular sclerosis and Hodgkin's lymphoma (NSHL), associated with unresponsive multiple hand warts, immune thrombocytopenia, and an impaired immunological profile (CD4+ lymphocytopenia, memory B-cell deficiency, reduction in regulatory T-cells, and B-cell- and T-cell-activated profiles).

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In this retrospective case-control study involving 424 pediatric patients diagnosed with Pediatric Acute Lymphoblastic Leukemia (ALL), the investigation focused on analyzing the clinical characteristics and prognosis associated with the Cyclin-dependent kinase inhibitor 2A/2B () gene. Treatment and evaluation followed the South China Children's Leukemia Group-ALL-2016 protocol (SCCLG-ALL-2016). Among the cohort, 92 patients (21.

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Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Genet Med

December 2024

Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

Purpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.

Methods: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs.

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Farber disease (FD) is an ultra-rare, autosomal-recessive, lysosomal storage disorder attributed to ASAH1 gene mutations. FD is characterized by acid ceramidase (ACDase) deficiency and the accumulation of ceramide in various tissues. Classical FD patients typically manifest symptoms including lipogranulomatosis, respiratory complications, and neurological deficits, often leading to mortality during infancy.

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Genomic tumor evolution dictates human medulloblastoma progression.

Neurooncol Adv

October 2024

Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Article Synopsis
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Background: The variability in patients' risk of oral mucositis (OM) has been, in part, attributed to differences in host genomics. The aim better define the role of genomics as an OM risk by investigating the association between genetic variants and the presence and severity of OM in pediatric patients with osteosarcoma (OS) undergoing chemotherapy (CT).

Methods: A longitudinal observational retrospective study was conducted.

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Blinatumomab in Standard-Risk B-Cell Acute Lymphoblastic Leukemia in Children.

N Engl J Med

December 2024

From the Division of Haematology-Oncology (S.G., S.A., S.Z.), the Faculty of Medicine (S.G., S.A.), and the Department of Laboratory Medicine and Pathobiology, University of Toronto (M.S.), Toronto, and British Columbia Children's Hospital, University of British Columbia, Vancouver (A.M.L.) - all in Canada; Seattle Children's Hospital (R.E.R., T.H.-W., M.L.L.), the Ben Towne Center for Childhood Cancer and Blood Disorders Research and the Department of Pediatrics, Fred Hutchinson Cancer Center, University of Washington (R.E.R., M.L.L.), and Adaptive Biotechnologies (I.K.) - all in Seattle; the Department of Biostatistics, Colleges of Medicine, Public Health, and Health Professions, University of Florida, Gainesville (J.A.K., C.W., S.C.); the Division of Pediatric Hematology-Oncology, Texas Children's Cancer and Hematology Center, Baylor College of Medicine, Houston (K.R.R.), Children's Blood and Cancer Center and Dell Children's Medical Center of Central Texas, Austin (H.R.K.), and the Department of Pediatrics, Division of Pediatric Hematology-Oncology, Harold C. Simmons Comprehensive Cancer Center, UT Southwestern Medical Center, Dallas (N.W.) - all in Texas; Servier Pharmaceuticals, Boston (A.L.A.); the Department of Genetics, University of Alabama at Birmingham, Birmingham (A.J.C.); Children's Hospital Colorado and the University of Colorado School of Medicine, Aurora (L.G., M.M.O.); the Division of Pediatric Hematology-Oncology, University of Utah, Primary Children's Hospital, Salt Lake City (J.L.M.); the Children's Oncology Group, Monrovia (O.M.), the Department of Pediatric Hematology-Oncology, MemorialCare Miller Children's and Women's Hospital Long Beach, Long Beach (M.O.), the Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles (B.L.W.), and Amgen, Thousand Oaks (F.Z.) - all in California; the Department of Pediatrics, Emory University School of Medicine, Atlanta (T.P.M.); the Steve and Cindy Rasmussen Institute for Genomic Medicine and the Biopathology Center, Nationwide Children's Hospital (S.C.R.) and the Biopathology Center and Children's Oncology Group Biospecimen Bank, Nationwide Children's Hospital (Y.M., E.W.) - both in Columbus, OH; Amgen Research, Munich, Germany (G.Z.); the Department of Global Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, TN (M.D.); the Department of Pediatrics and the Center for Childhood Cancer Research, Children's Hospital of Philadelphia, and the Perelman School of Medicine, University of Pennsylvania - both in Philadelphia (S.P.H., D.T.T.); and the Department of Pediatrics and Perlmutter Cancer Center, NYU Langone Health, New York (E.A.R.).

Background: B-cell acute lymphoblastic leukemia (B-cell ALL) is the most common childhood cancer. Despite a high overall cure rate, relapsed B-cell ALL remains a leading cause of cancer-related death among children. The addition of the bispecific T-cell engager molecule blinatumomab (an anti-CD19 and anti-CD3 single-chain molecule) to therapy for newly diagnosed standard-risk (as defined by the National Cancer Institute) B-cell ALL in children may improve outcomes.

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  • This study examined post-traumatic stress symptoms (PTSS) in head and neck cancer patients, focusing on their relationship with demographic factors, psychological aspects, and genetic variants.
  • It included 155 patients split into two groups, one before the COVID-19 pandemic and one during it, using standardized questionnaires and genetic testing to gather data.
  • Results indicated that younger age and adverse childhood experiences (ACEs) increased PTSS before the pandemic, while during the pandemic, history of depression and negative pandemic effects were major contributors to elevated PTSS scores.
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Background: The capacity to anticipate future health issues is important for both policy makers and practitioners in the USA, as such insights can facilitate effective planning, investment, and implementation strategies. Forecasting trends in disease and injury burden is not only crucial for policy makers but also garners substantial interest from the general populace and leads to a better-informed public. Through the integration of new data sources, the refinement of methodologies, and the inclusion of additional causes, we have improved our previous forecasting efforts within the scope of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) to produce forecasts at the state and national levels for the USA under various possible scenarios.

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Unraveling the Prognostic Role of t(1:19) in Pediatric Pre-B Acute Lymphoblastic Leukemia: Insights from a Saudi Nationwide Cohort.

Cancer Genet

November 2024

Department of Oncology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia; Hematology Department, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia; Hematology Research Unit, King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia.

Recurrent translocation t(1;19) (q23;p13) describes a unique cytogenetic group of childhood B-cell acute lymphoblastic leukemia (ALL). Historically, t(1;19)(q23;p13.3) has been associated with poor outcomes.

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Coupling cellular drug-target engagement to downstream pharmacology with CeTEAM.

Nat Commun

December 2024

Science for Life Laboratory, Division of Clinical Physiology, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital, Huddinge, SE-141 52, Sweden.

Cellular target engagement technologies enable quantification of intracellular drug binding; however, simultaneous assessment of drug-associated phenotypes has proven challenging. Here, we present cellular target engagement by accumulation of mutant as a platform that can concomitantly evaluate drug-target interactions and phenotypic responses using conditionally stabilized drug biosensors. We observe that drug-responsive proteotypes are prevalent among reported mutants of known drug targets.

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Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Lancet

December 2025

Biomedical Innovation Unit, Center for Research on Energy, Environment and Technology (CIEMAT), Madrid, Spain; Biomedical Network Research Center for Rare Diseases (CIBERER), Madrid, Spain; Sanitary Research Institute Fundación Jiménez Díaz (U.A.M), Madrid, Spain. Electronic address:

Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.

Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.

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Article Synopsis
  • The Developmental Origins of Health and Disease (DOHaD) concept links early adverse conditions, like maternal protein restriction, to chronic diseases, specifically prostate cancer (PCa).
  • The study investigated the expression of piwi-interacting RNAs (piRNAs) in the ventral prostate of rat offspring affected by maternal malnutrition, revealing developmental delays and altered tissue structures.
  • Findings suggest that maternal malnutrition influences piRNA expression, which may have long-term effects on prostate health and increase the risk of disorders as the offspring age.
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Purpose: The use of up-front tumor genomic sequencing (TGS) is becoming increasingly common in pediatric oncology. Despite this, little is known about how parents receive information about TGS at the time of their child's cancer diagnosis. We aimed to describe parents' experiences with and preferences for receiving information about TGS and to use these findings to inform practical guidance for pediatric oncology clinicians.

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ERRα is dispensable for hematopoietic stem cell function in the bone marrow.

Biochem Biophys Res Commun

December 2024

Department of Convergence Medicine, School of Medicine, Pusan National University, Yangsan, 50612, Republic of Korea; Transplantation Research Center, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, 50612, Republic of Korea. Electronic address:

Hematopoietic stem cells (HSCs) have the ability to self-renew, differentiate into various blood cell types, and reside in the bone marrow (BM) niche. Estrogen-related receptor α (ERRα) is an orphan nuclear receptor that has a role in mitochondrial biogenesis and metabolic regulation. Previous research has shown that ERRα contributes to the development of acute myeloid leukemia (AML) by acting as a key regulator of mitochondrial processes, though its role in HSC regulation remains mostly unknown.

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