Pediatric Blood & Cancer最新文献

{"title":"Treatment and Decision-Making Preferences of Adolescents and Young Adults With Advanced Cancer and Their Parents or Trusted Persons: An Adaptive Conjoint Analysis Study","authors":"Jennifer M. Snaman,&nbsp;Deborah Feifer,&nbsp;Gabrielle Helton,&nbsp;Benjamin Herold,&nbsp;Li Chen,&nbsp;Emanuele Mazzola,&nbsp;Abby R. Rosenberg,&nbsp;Justin N. Baker,&nbsp;Joanne Wolfe","doi":"10.1002/pbc.31624","DOIUrl":"10.1002/pbc.31624","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>Treatment decision-making in adolescents and young adults (AYAs) requires preference consideration and tradeoffs. Using MyPref, an adaptive conjoint analysis tool, we examined and compared the decision-making and treatment preferences of both AYAs and their parent or other trusted person (PTP).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and Methods</h3>\u0000 \u0000 <p>AYAs aged 15–30 with advanced cancer independently completed MyPref, including demographic questions, the Control Preference Scale, and the adaptive conjoint analysis survey. AYAs could invite a PTP to participate. Participants received a personalized MyPref Summary Report quantifying their preference for nine treatment attributes. Preference scores were summarized and compared by participant group, AYA age, sex, cancer diagnosis, and distance from the hospital.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We enrolled 50 AYAs, 15 of whom selected a PTP to participate. Most AYAs identified as male (64%), White, non-Hispanic (84%), and had solid tumors (48%). The majority (80%) of PTPs identified as the AYA's mother. AYAs favored participant-led decision-making, while PTPs preferred a shared approach. Treatment attributes with the highest preference scores included time until cancer grows, quality of life, and side effects. Compared to PTPs, AYAs had lower preference scores for quality of life. Older AYAs (<span></span><math>\u0000 <semantics>\u0000 <mrow>\u0000 <mo>≥</mo>\u0000 <mn>24</mn>\u0000 </mrow>\u0000 <annotation>$ ge 24$</annotation>\u0000 </semantics></math> years) placed more emphasis on the time until cancer grows, whereas younger AYAs prioritized clinic visit frequency.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>AYAs with advanced cancer exhibit diverse preferences for decision-making roles and treatment factors. Despite differences, participants valued longer time until cancer progression and quality of life. Future research should explore how preferences of AYAs and their PTPs change over time and optimal strategies for initiating preference discussions earlier in the illness course.</p>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492788","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":"Assessment of Lung Nodules in Children With Pediatric Sarcoma Undergoing [18F]-FDG-PET/MR for Staging","authors":"Giulia Fichera,&nbsp;Diego Cecchin,&nbsp;Roberto Stramare,&nbsp;Gianni Bisogno,&nbsp;Francesco Causin,&nbsp;Pietro Zucchetta,&nbsp;Chiara Giraudo","doi":"10.1002/pbc.31622","DOIUrl":"10.1002/pbc.31622","url":null,"abstract":"<p>Bone and soft tissue pediatric sarcomas metastasize to the lungs, and computed tomography (CT) represents the diagnostic gold standard. We aimed to investigate the diagnostic accuracy of turbo inversion recovery magnitude (TIRM), inverted TIRM (inverted turbo inversion recovery magnitude [iTIRM]), and T1-weighted (T1w) controlled aliasing in parallel imaging results in higher acceleration (CAIPIRINHA) DIXON with water contrast for the diagnosis of lung metastases in children who underwent 18F-fluorydexoxyglucose-positron emission tomography/magnetic resonance ([18F]-FDG-PET/MR) for staging. TIRM showed the highest sensitivity (84.62%), whereas iTIRM and T1w had higher specificity (89.13% and 100%, respectively). Magnetic resonance imaging provides a good diagnostic performance for pulmonary metastases in children with sarcomas using both fluid sensitive and T1w sequences.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31622","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aplastic Anemia as a Rare Manifestation of SAP Deficiency","authors":"Vasil Toskov,&nbsp;Damaris Werner,&nbsp;Ingrid Furlan,&nbsp;Miriam Erlacher,&nbsp;Carsten Friedrich,&nbsp;Ansgar Schulz,&nbsp;Christian Reimann,&nbsp;Omid Madadi-Sanjani,&nbsp;Martin Radner,&nbsp;Julian Benckendorff,&nbsp;Stephan Schwarz-Furlan,&nbsp;Rita Beier,&nbsp;Stephan Ehl,&nbsp;Brigitte Strahm,&nbsp;Ayami Yoshimi","doi":"10.1002/pbc.31625","DOIUrl":"10.1002/pbc.31625","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143492786","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":"Pediatric Cerebral Sinovenous Thrombosis Associated With Thrombopoietin Receptor Agonist in the Treatment of Chronic Immune Thrombocytopenia","authors":"Maurisa Rapp,&nbsp;Marie Martinelli","doi":"10.1002/pbc.31635","DOIUrl":"10.1002/pbc.31635","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483871","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":"Prolonged Hypogammaglobulinemia in a Child With Down Syndrome After Treatment of Acute Lymphoblastic Leukemia With Immunochemotherapy Including Blinatumomab","authors":"Reena Pabari,&nbsp;Johann Hitzler","doi":"10.1002/pbc.31626","DOIUrl":"10.1002/pbc.31626","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 5","pages":""},"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,&nbsp;Deniz Yılmaz Karapınar,&nbsp;Nihal Karadaş,&nbsp;Murat Karaoğlan,&nbsp;Sinan Akbayram,&nbsp;Damla Gökşen,&nbsp;Ayşe Gadashova,&nbsp;Serpil Albayrak,&nbsp;Esra Pekpak Şahinoğlu,&nbsp;Zerrin Orbak,&nbsp;Zafer Bıçakçı,&nbsp;Leyla Akın,&nbsp;Canan Albayrak,&nbsp;Cansu Koç,&nbsp;Ayşegül Ünüvar,&nbsp;Ahmet Anık,&nbsp;Yusuf Ziya Aral,&nbsp;Emine Ayça Cimbek,&nbsp;Ayşenur Bahadır,&nbsp;Cem Mete,&nbsp;Samim Özen","doi":"10.1002/pbc.31591","DOIUrl":"10.1002/pbc.31591","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A homozygous single nucleotide insertion (position 130–131insA) leading to a premature stop codon; p.Trp44*(c.132G&gt;A) variant in HAX1 gene was detected in 42 (93.3%) affected individuals. Other homozygous variants were p.Arg86*(c.256C&gt;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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>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>\u0000 </section>\u0000 </div>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31591","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RAS Pathway Mutations and Therapeutics in Vascular Anomalies","authors":"Sara Alharbi,&nbsp;Svatava Merkle,&nbsp;Adrienne M. Hammill,&nbsp;Andrew M. Waters,&nbsp;Timothy D. Le Cras","doi":"10.1002/pbc.31605","DOIUrl":"10.1002/pbc.31605","url":null,"abstract":"<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. <i>RAS</i> genes (<i>KRAS</i>, <i>NRAS</i>, and <i>HRAS</i>) 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 <i>RAS</i> genes are found in multiple tumor types and VAs. <i>RAS</i> 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":"72 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31605","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":"OA","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,&nbsp;Ayumi Kato,&nbsp;Masahiko Hara","doi":"10.1002/pbc.31620","DOIUrl":"10.1002/pbc.31620","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 5","pages":""},"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,&nbsp;Lise Frost,&nbsp;Klaus Birkelund Johansen,&nbsp;Gitte Hesthaven Jørgensen","doi":"10.1002/pbc.31612","DOIUrl":"10.1002/pbc.31612","url":null,"abstract":"<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":"72 5","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.31612","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":"OA","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,&nbsp;Jianxia Chen,&nbsp;Meizhu Luo,&nbsp;Zhenhu Lin,&nbsp;Xiaoying Fu","doi":"10.1002/pbc.31618","DOIUrl":"10.1002/pbc.31618","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":"72 5","pages":""},"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}