Pediatric Blood & Cancer最新文献

{"title":"Prolonged Hypogammaglobulinemia in a Child With Down Syndrome After Treatment of Acute Lymphoblastic Leukemia With Immunochemotherapy Including Blinatumomab.","authors":"Reena Pabari, Johann Hitzler","doi":"10.1002/pbc.31626","DOIUrl":"https://doi.org/10.1002/pbc.31626","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31626"},"PeriodicalIF":2.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Little Known but Very Common Phenotype in Patients with Severe Congenital Neutropenia due to HAX1 Deficiency: Premature Ovarian Insufficiency.","authors":"Deniz Özalp Kızılay, Deniz Yılmaz Karapınar, Nihal Karadaş, Murat Karaoğlan, Sinan Akbayram, Damla Gökşen, Ayşe Gadashova, Serpil Albayrak, Esra Pekpak Şahinoğlu, Zerrin Orbak, Zafer Bıçakçı, Leyla Akın, Canan Albayrak, Cansu Koç, Ayşegül Ünüvar, Ahmet Anık, Yusuf Ziya Aral, Emine Ayça Cimbek, Ayşenur Bahadır, Cem Mete, Samim Özen","doi":"10.1002/pbc.31591","DOIUrl":"https://doi.org/10.1002/pbc.31591","url":null,"abstract":"<p><strong>Background: </strong>Autosomal recessive severe congenital neutropenia (SCN) has been associated with homozygous variants in the HAX1 gene. The aim of this cross-sectional study was to evaluate the gonadal function and pubertal development in pediatric patients with SCN due to HAX1 gene variant (HAX1-SCN).</p><p><strong>Methods: </strong>Forty-five patients, including 24 females (median age 11.3 [1.5-31] years, 13 pubertal, 11 prepubertal), and 21 males (median age 9.5 (3-18.8) years, 7 pubertal, 14 prepubertal), followed in seven centers, were included. POI is defined as a menstrual disturbance with increased follicle-stimulating hormone (FSH) and low anti-Mullerian hormone (AMH). We classified prepubertal female patients as impending POI when they had low AMH and high FSH values, indicating impaired ovarian function.</p><p><strong>Results: </strong>A homozygous single nucleotide insertion (position 130-131insA) leading to a premature stop codon; p.Trp44*(c.132G>A) variant in HAX1 gene was detected in 42 (93.3%) affected individuals. Other homozygous variants were p.Arg86*(c.256C>T) and p.Glu60Aspfs*25(c.180delA). We detected elevated serum FSH levels in 10/11 (90.9%) of prepubertal female patients, supporting the diagnosis of impending POI, and in 12/13 (92.3%) of pubertal female patients, classifying them as POI. All female patients had low AMH levels. Male patients did not exhibit gonadal insufficiency.</p><p><strong>Conclusions: </strong>This is the first and largest case series covering early childhood to evaluate patients with HAX1-SCN for gonadal function. It has been observed that pubertal females develop POI, prepubertal females are at increased risk for gonadal failure, and male patients are not affected. Our results suggest that HAX1 has an important role in ovarian maturation and/or function.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31591"},"PeriodicalIF":2.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RAS Pathway Mutations and Therapeutics in Vascular Anomalies.","authors":"Sara Alharbi, Svatava Merkle, Adrienne M Hammill, Andrew M Waters, Timothy D Le Cras","doi":"10.1002/pbc.31605","DOIUrl":"https://doi.org/10.1002/pbc.31605","url":null,"abstract":"<p><p>Vascular anomalies (VAs) are a diverse group of vascular tumors and vascular malformations (VMs). VMs are characterized by abnormal vessel development, overgrowth, and dysfunction. Coagulopathy, edema, and effusions can cause severe morbidity and mortality in children and adults with these diseases. Germline or somatic mutations in the RAS/RAF/MAPK pathway have been identified in multiple types of VAs. RAS genes (KRAS, NRAS, and HRAS) are small GTPase proteins that play an important role in normal development and cell function. In healthy cells, RAS proteins cycle between GDP (inactive) and GTP (active) states that regulate important functions such as proliferation, migration, and survival. \"Hot spot\" mutations in codons 12, 13, or 61 of RAS genes are found in multiple tumor types and VAs. RAS mutations often cause excessive MAP kinase signaling, driving unchecked cell proliferation. In this review, we discuss the different RAS pathway mutations discovered in VAs and the role that these may play using insights from cell and animal models. Current therapies targeting RAS pathways are presented. In the future, a better understanding of the role of RAS pathway mutations may advance therapeutic strategies for people with VAs.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31605"},"PeriodicalIF":2.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Somato-Cognitive Coordination Therapy in a Brain Tumor Survivor With Attention-Deficit/Hyperactivity Disorder Symptoms and Motor Coordination Impairments.","authors":"Masanobu Takeuchi, Ayumi Kato, Masahiko Hara","doi":"10.1002/pbc.31620","DOIUrl":"https://doi.org/10.1002/pbc.31620","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31620"},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bloodletting as Medical Child Abuse Revealed by Lack of Iron Accumulation Despite Multiple Erythrocyte Transfusions.","authors":"Henrik Hasle, Lise Frost, Klaus Birkelund Johansen, Gitte Hesthaven Jørgensen","doi":"10.1002/pbc.31612","DOIUrl":"https://doi.org/10.1002/pbc.31612","url":null,"abstract":"<p><p>The central venous line was used for feeding an infant with failure to thrive. He later developed unexplained severe transfusion-dependent anemia. Ferritin remained low despite more than 100 transfusions. The medical arguments mainly based upon iron physiology provided strong suspicion for intended bloodletting, which was documented by covert video. The mother was very active on social media lacking behavioral signs of Munchhausen by proxy during hospital contacts. Despite clear medical evidence of medical child abuse, the diagnosis was delayed by several years.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31612"},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Case of Acute Leukemia With CBFA2T3::GLIS2 Fusion Exhibiting a T/Megakaryocyte Mixed Phenotype.","authors":"Qiang Yao, Jianxia Chen, Meizhu Luo, Zhenhu Lin, Xiaoying Fu","doi":"10.1002/pbc.31618","DOIUrl":"https://doi.org/10.1002/pbc.31618","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31618"},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Benefits of Routine Screening for Parental Distress in Pediatric Cancer: A Pilot Implementation Effectiveness Study.","authors":"Xiomara Skrabal Ross, Janine Kemp, Claire Radford, Amanda Carter, Lara Davey, Toni Day, Zephanie Tyack, Hannah Carter, Natalie Bradford","doi":"10.1002/pbc.31614","DOIUrl":"https://doi.org/10.1002/pbc.31614","url":null,"abstract":"<p><strong>Objective: </strong>To explore the preliminary effectiveness and implementation outcomes (feasibility, acceptability, cost) of an intervention (eMaP), which provides electronic psychosocial screening and support for parents of children and adolescents with cancer (0-18 years).</p><p><strong>Methods: </strong>This single-site, pilot implementation-effectiveness study, integrated routine screening into standard care for parents of children 12-16 weeks post diagnosis. Parents completed an online distress screening questionnaire, and those scoring high in distress received additional support from a social worker. Feasibility was measured using study uptake and completion rates, while costs were calculated based on social workers' time. Qualitative interviews provided insights into acceptability.</p><p><strong>Results: </strong>Out of 66 parents approached, 57 (86%) agreed to participate, indicating strong interest. Preliminary results showed that parents with concerning initial distress levels, who received clinical social worker support, experienced significant reductions in distress and support needs, and improvements in quality of life from baseline to T2 (8 weeks later) (all p ≤ 0.01). Routine monthly screening was considered feasible and valuable by both parents and social workers. Parents appreciated distress screening as a means of increasing awareness of their needs and valued the additional psychosocial support provided when indicated, while social workers found it useful for capturing clinical information often missed in standard care.</p><p><strong>Conclusion: </strong>The eMaP intervention was feasible and acceptable to both parents and staff, showing promise to improve parents' psychosocial outcomes. The study suggests the need for refinements of the intervention and explorations of effectiveness in improving parents' outcomes in future studies.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31614"},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bacterial and Parasitic Stool Studies Have Limited Utility in Pediatric Hematopoietic Stem Cell Transplant Patients.","authors":"Matthew Nagy, Chiara Wychera, Jeffrey Schemm, Ryan Brewster, Christine N Duncan","doi":"10.1002/pbc.31617","DOIUrl":"https://doi.org/10.1002/pbc.31617","url":null,"abstract":"<p><strong>Background: </strong>Diarrhea is a common complication among pediatric hematopoietic stem cell transplantation (HCT) recipients. Although many of the cases are secondary to graft-versus-host disease (GVHD), stool microbiological studies are often performed to evaluate an underlying infectious etiology. The aim of this study was to assess the frequency and utility of stool studies in children who have undergone HCT.</p><p><strong>Methods: </strong>Demographics, clinical characteristics, and stool study results (viral, parasitic, and bacterial) of all patients who underwent HCT at a large, academic, freestanding children's hospital between January 2006 and December 2023 were obtained. Statistical analysis conducted included t tests, chi-square, and linear regression.</p><p><strong>Results: </strong>Overall, 1381 HCT recipients (9.2 ± 6.6 years) were included. Altogether, 6509 stool studies were obtained among 741 (54%) patients. Salmonella, Shigella, Yersinia, Campylobacter, and Escherichia coli (SSYCE) studies were sent on 363 (26%, 2252 studies) patients with 1 (0.04%) positive result. Clostridium difficile was sent on 706 (51%, 2055 studies) patients, with 156 positive studies (7.6%). Stool ova and parasite testing was sent on 143 (10%, 242 studies) patients, with two positive results (0.8%). Viral studies were sent on 638 (46%, 1960 studies) patients, with 107 positive studies (5.5%).</p><p><strong>Conclusions: </strong>While testing for Clostridium difficile and enteric viruses may have value in the work-up of pediatric HCT patients, SSYCE and O&P studies hold little to no value. Clinical practices surrounding routine stool microbiological studies should be reconsidered.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31617"},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Challenges and Opportunities of a Multi-Institutional Treatment Guideline for Wilms Tumor in Low-Middle-Income Countries-A Report from the Asociación de Hemato-Oncología Pediátrica de Centro América (AHOPCA).","authors":"Patricia Valverde, Thelma Velasquez, Roberta Ortiz, Soad Linneth Fuentes-Alabi, Armando Peña, José Fernando Gonzalez, Tito Luis Gutierrez, Luis Enrique Melendez, Enrique Tome, Magda Arreola, Maria Grazia Valsecchi, Valeria Colombo, Sandra Luna-Fineman, Jessica Blanco-Lopez, Monika L Metzger, Filippo Spreafico","doi":"10.1002/pbc.31616","DOIUrl":"https://doi.org/10.1002/pbc.31616","url":null,"abstract":"<p><p>Since 2000, centers across Central America have shared treatment guidelines for Wilms tumor, using histology (anaplasia present or absent) and tumor stage to stratify patients into low-, intermediate-, and high-risk groups. Weekly virtual tumor board meetings involving local and international experts were held to ensure consistent treatment assignments. We analyzed data from 367 children with unilateral tumors treated per these guidelines. Five-year abandonment-sensitive event-free and overall survival estimates were: low risk 82% ± 3.8% and 86% ± 3.6%, intermediate risk 50% ± 3.4% and 60% ± 3.4%, and high risk 36% ± 7.6% and 45% ± 7.9%. Survival outcomes were suboptimal, primarily due to advanced disease in fragile children at presentation and abandonment of treatment.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31616"},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic Value of Peripheral Blood Lymphocyte Subsets in Children and Adolescents with High-Grade Mature B-Cell Non-Hodgkin Lymphoma: A Real-World Outcomes Study.","authors":"Chenggong Zeng, Zhiqing Wei, Junting Huang, Jia Zhu, Feifei Sun, Juan Wang, Suying Lu, Yizhuo Zhang, Xiaofei Sun, Zijun Zhen","doi":"10.1002/pbc.31613","DOIUrl":"https://doi.org/10.1002/pbc.31613","url":null,"abstract":"<p><strong>Background: </strong>Little progress has been made in determining prognostic factors for patients with high-grade mature B-cell non-Hodgkin lymphoma (HG B-NHL). Based on the important role of lymphocytes in cancer progression, this study aimed to explore the effect of peripheral blood lymphocytes on the prognosis of pediatric HG B-NHL.</p><p><strong>Methods: </strong>Patients aged less than 18 years with newly diagnosed HG B-NHL were enrolled. Peripheral blood lymphocyte subset levels were detected at diagnosis, and their optimal cutoff values were determined according to event-free survival (EFS).</p><p><strong>Results: </strong>In total, 206 patients were enrolled. The 5-year EFS and overall survival (OS) rates of the whole group were 92.1% ± 1.9% and 96.6% ± 1.3%, respectively. The 5-year EFS rate was worse in patients with a low relative CD4⁺ T-cell count (87.2% vs. 97.0%, p = 0.008), high relative CD8⁺ T-cell count (79.1% vs. 93.4%, p = 0.03), low CD4/CD8 ratio (80.5% vs. 94.2%, p = 0.01), and low B-cell count (80.0% vs. 93.4%, p = 0.02) at diagnosis than their counterparts. Cox multivariate analysis identified low relative CD4⁺ T-cell (HR = 4.91) and B-cell (HR = 3.87) counts at diagnosis as independent adverse prognostic factors. Patients with simultaneously low levels of CD4⁺ T and B cells had the worst outcomes in the entire cohort, with a 5-year EFS rate of 60.0%.</p><p><strong>Conclusion: </strong>Low relative CD4⁺ T-cell and B-cell counts at diagnosis are associated with poor prognosis in children and adolescents with HG B-NHL in the real world.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e31613"},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}