Pediatric Blood & Cancer最新文献

{"title":"A Biallelic ITGA10 Variant as a Candidate for Inherited Thrombocytopenia: Insights From a Whole-Exome Sequencing Cohort.","authors":"Durdugul Ayyildiz Emecen, Tahir Atik, Petek Ballar Kırmızıbayrak, Cumhur Gunduz, Esra Isik, Enise Avci Durmusalioglu, Deniz Yılmaz Karapinar, Mahdi Shekari, Goklem Uner, Tiraje Celkan, Melike Sezgin Evim, Zeynep Yıldız Yıldırmak, Veysiye Hülya Üzel, Yeşim Oymak, Yılmaz Ay, Ayşegül Ünüvar, Ayça Kıykım, Ayşe GoncaKaçar, Nihal Karadaş, Özgür Çoğulu, Ferda Özkınay","doi":"10.1002/1545-5017.70733","DOIUrl":"https://doi.org/10.1002/1545-5017.70733","url":null,"abstract":"<p><strong>Background: </strong>Inherited platelet disorders (IPDs) are a heterogeneous group of diseases characterized by thrombocytopenia and/or platelet functional abnormalities. This study aimed to identify novel candidate genes associated with hereditary thrombocytopenia using whole-exome sequencing (WES).</p><p><strong>Methods: </strong>WES was performed in 40 patients with suspected IPDs. Functional characterization included segregation analysis, platelet-based immunoblotting, and in silico structural modeling.</p><p><strong>Results: </strong>Rare variants in known IPD-associated genes were identified in 32 patients (80%). Reanalysis of unresolved cases identified a novel homozygous ITGA10 (NM_003637.5) variant (c.2248C>T; p.Leu750Phe) in a 5-year-old female with severe thrombocytopenia. ITGA10 encodes the α10 subunit of the α10β1 integrin complex and is located within the recurrent 1q21.1 microdeletion region associated with thrombocytopenia-absent radius syndrome. Immunoblotting studies demonstrated mildly reduced ITGA10 expression, an additional ∼80 kDa ITGA10-related band, markedly reduced ITGB1 expression, and absence of β-actin expression in platelet lysates despite wild-type ACTB and ITGB1 genotypes. In silico structural analysis predicted reduced protein stability and impaired conformational flexibility associated with the p.Leu750Phe substitution.</p><p><strong>Conclusions: </strong>These findings support ITGA10 as a novel candidate gene for inherited thrombocytopenia and suggest that disruption of the ITGA10-ITGB1 integrin complex may contribute to abnormal platelet homeostasis and cytoskeletal organization. Further functional studies and additional patients will be important to clarify the biological mechanisms and establish the role of ITGA10 in inherited thrombocytopenia.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70733"},"PeriodicalIF":2.4,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149113397","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":"Chachoo.","authors":"Muhammad Abdul Wahab Toor, Haseeb Ahmad","doi":"10.1002/1545-5017.70626","DOIUrl":"10.1002/1545-5017.70626","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70626"},"PeriodicalIF":2.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148724738","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":"Psychosocial, Behavioral, and Clinical Correlates of Loneliness in Adolescent Cancer Survivors at the Transition off Treatment.","authors":"Nele Loecher, Kathryn Russell, Anna M Jones, Emily Browne, Elizabeth Barnwell, Sandra C Jones, Tara M Brinkman, I-Chan Huang, Rachel T Webster","doi":"10.1002/1545-5017.70614","DOIUrl":"10.1002/1545-5017.70614","url":null,"abstract":"<p><p>Loneliness is common during adolescence, yet is poorly understood in adolescents with cancer. This study examined associations between loneliness and psychosocial, physical, and lifestyle factors. Among 49 adolescents ending treatment, 35.5% felt 'lonely' (state of feeling isolated) and 26.9% felt 'alone' (physical state of not having others around). Feeling 'lonely' (adjusted for sex) and 'alone' were associated with negative illness perceptions (r = 0.50, p = 0.00; r = 0.35, p = 0.02), increased anxiety (r = 0.65, p = 0.00; r = 0.68, p = 0.00), lower mindfulness (r = -0.68, p = 0.00; r = -0.62, p = 0.00), increased vaping (r = 0.34, p = 0.02; r = 0.47, p < 0.001), and marijuana use (lonely: r = 0.37, p = 0.01). Findings indicate loneliness may relate to emotional and behavioral risks.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70614"},"PeriodicalIF":2.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148664135","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":"Standardizing Fertility Preservation Counseling for Pediatric Hematology-Oncology and Transplant and Cellular Therapy Patients: A Quality Improvement Initiative.","authors":"Rachel Offenbacher, Emily F Stanford, Rachel Sklar, Moriah Rabin, Denise Velazquez, Daniel A Weiser, Mahvish Q Rahim","doi":"10.1002/1545-5017.70603","DOIUrl":"10.1002/1545-5017.70603","url":null,"abstract":"<p><strong>Background: </strong>Infertility following gonadotoxic chemotherapy is among the most distressing late effects experienced by childhood cancer survivors, highlighting the importance of fertility preservation (FP) counseling at the time of diagnosis. We aimed to improve the frequency and consistency of FP counseling and provider comfort with infertility-related discussions through implementation of a standardized multidisciplinary workflow.</p><p><strong>Procedure: </strong>Interventions were implemented through two sequential Plan-Do-Study-Act (PDSA) cycles to standardize fertility counseling practices. The first focused on provider education, workflow reminders, and standardized documentation. The second established a multidisciplinary FP team (FPT) to provide individualized patient counseling and facilitate FP. Documented FP counseling was assessed through chart review, and provider comfort regarding infertility and FP discussions was evaluated through anonymous surveys.</p><p><strong>Results: </strong>Documented fertility counseling improved from 43% at baseline to 65% following the first PDSA cycle and to 93.2% following implementation of the FPT in PDSA Cycle 2. Provider comfort improved most notably when counseling pubertal patients. Provider self-reported comfort with fertility-related discussions increased from 70% to 82% for pubertal male patients and from 56% to 82% for pubertal female patients. Comfort discussing FP with prepubertal patients remained comparatively lower throughout the study.</p><p><strong>Conclusion: </strong>A multidisciplinary FPT with standardized workflow resulted in sustained improvement of documented fertility counseling, while also improving provider comfort with fertility-related discussions. These interventions were also associated with increased utilization of FP services. This represents an effective strategy to reduce missed opportunities for FP, ensuring timely counseling and access to FP options to all patients undergoing gonadotoxic therapy.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70603"},"PeriodicalIF":2.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148631092","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":"Post-Graft Romiplostim Before Posttransplant Cyclophosphamide in Emergency Haploidentical Transplantation for Very Severe Aplastic Anemia.","authors":"Te-Fu Weng, Kang-Hsi Wu","doi":"10.1002/1545-5017.70552","DOIUrl":"10.1002/1545-5017.70552","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70552"},"PeriodicalIF":2.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148562672","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":"PTPN2-Associated Immune Dysregulation Presenting With Autoimmune Cytopenias, Lymphoproliferation, and Recurrent Intussusception.","authors":"Keiji Tasaka, Seishiro Nodomi, Takayuki Hamabata, Yuiko Hirata, Ryo Ogino, Naoya Iwata, Shohei Azumi, Takahiro Yasumi, Nobutaka Kiyokawa, Emi Takakuwa, Hideto Iwafuchi, Atsuko Nakazawa, Kazushi Izawa","doi":"10.1002/1545-5017.70572","DOIUrl":"10.1002/1545-5017.70572","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70572"},"PeriodicalIF":2.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148562722","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":"Transient Amegakaryocytic Thrombocytopenia With Congenital CMV: Neonatal Long-Term Follow-Up.","authors":"Xiaoya Wei, Mengchun Li, Yanfei Liu","doi":"10.1002/1545-5017.70597","DOIUrl":"10.1002/1545-5017.70597","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70597"},"PeriodicalIF":2.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593173","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":"Radiological Late Dental Adverse Effects Following Treatment for Paediatric Head and Neck Rhabdomyosarcoma: Results of a Transatlantic Multicentre Cohort Study.","authors":"Koen B Krommenhoek, Marinka L F Hol, Poyan Maghsoudi, Thomas J T Leung, Reineke A Schoot, Willem M M Fennis, Daniel J Indelicato, Olga Slater, Frederic Kolb, Reinier C Hoogeveen, Johannes H M Merks, Alfred G Becking","doi":"10.1002/1545-5017.70609","DOIUrl":"10.1002/1545-5017.70609","url":null,"abstract":"<p><strong>Objectives: </strong>Rhabdomyosarcoma represents the most common paediatric soft tissue sarcoma, with 40% occurring in the head and neck region. Given that survival rates now reach 80%, minimising late adverse effects, particularly dental developmental complications, has become a priority. The aim of this paper was to identify the scope, severity and range of such late dental effects following treatment for head and neck sarcoma.</p><p><strong>Materials and methods: </strong>We systematically investigated late dental adverse events using orthopantomograms in rhabdomyosarcoma survivors treated between 1990 and 2014. Orthopantomograms were evaluated using a validated scoring system (DENTALE) that evaluates skeletal deformations, tooth presence, tooth wear, crown shape, eruption, root-crown ratio and root shape.</p><p><strong>Results: </strong>Among 103 survivors (median age at diagnosis 5.4 years, 42.7% female), 92.2% exhibited dental adverse effects. Missing molars occurred in 45.6% of survivors. Root abnormalities were present in 72.8% of survivors, crown-to-root ratio abnormalities in 56.3% and eruption disturbances in 45.6%. Age at diagnosis was inversely correlated with total adverse effect score (r_s  = -0.389, p < 0.001). Survivors diagnosed before age 6 had significantly higher total dental adverse effect scores (p = 0.008), showing more effects of crowns (p = 0.016), crown-root ratio (p = 0.020), tooth eruption (p = 0.005) and roots (p = 0.006).</p><p><strong>Conclusion: </strong>This study demonstrates that rhabdomyosarcoma survivors are at substantial risk for a variety of dental developmental issues when treated at a younger age. Consequently, routine dental screening during follow-up is essential, with specialised dental and orthodontic care provided when clinically indicated.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70609"},"PeriodicalIF":2.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148702093","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":"Health-Related Quality of Life and Symptom Burden in Pediatric Patients Receiving CAR T-Cell Therapy: A Prospective, Longitudinal Patient-Reported Outcomes Study.","authors":"Angela Steineck, Liyun Zhang, Amy Y Pan, Mallory R Taylor, Sara K Silbert, Haneen Shalabi, Liam Comiskey, Jennifer M Knight, Lori Wiener, Deena Levine","doi":"10.1002/1545-5017.70589","DOIUrl":"10.1002/1545-5017.70589","url":null,"abstract":"<p><strong>Background: </strong>Chimeric antigen receptor (CAR) T-cell therapy has expanded rapidly as an investigational treatment for advanced cancers. Studies in acute lymphoblastic leukemia (ALL) suggest health-related quality of life (HRQOL) may improve by 1-month post-infusion. However, patient-reported outcomes remain insufficiently characterized, particularly across the broader pediatric CAR T-cell population.</p><p><strong>Procedure: </strong>English- or Spanish-speaking patients (ages 8-25 years) receiving CAR T-cell therapy for any malignancy were recruited from three US pediatric cancer centers. Patient-reported HRQOL (PedsQL) and symptom burden (Memorial Symptom Assessment Scale [MSAS]) were assessed serially through 12 months post-infusion, emphasizing the first month. Linear mixed models characterized score trajectories and examined associations between symptom burden and HRQOL.</p><p><strong>Results: </strong>Fifty-nine patients completed baseline HRQOL assessments; 41% were treated for ALL. Median age was 17 years and 46% identified as female. Participants completed a median of six assessments, with nearly 75% obtained within the first month. Scores were worst at baseline (mean [SD]: PedsQL Generic: 64.9 [18.4], PedsQL Cancer: 70.0 [16.2], MSAS: 24.4 [19.4]) and improved post-infusion. The greatest gains from baseline to 4 weeks were seen in physical functioning (mean + 8) and worry (mean + 20). Across all timepoints, the most burdensome symptoms were fatigue, worry, pain, nervousness, and anorexia. Symptom burden demonstrated a strong negative correlation with HRQOL (r = - 0.81, p <  0.0001).</p><p><strong>Conclusions: </strong>Pediatric patients undergoing CAR T-cell therapy experience generally favorable HRQOL trajectories and modest, time-limited symptom burden. Serial patient-reported outcome collection is feasible in this population and provides actionable insight to guide supportive care delivery.</p>","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70589"},"PeriodicalIF":2.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148631099","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":"Targeted Busulfan Conditioning for Cord Blood Transplantation in Newborn-Screened Severe Combined Immunodeficiency.","authors":"Kosuke Mizuno, Takashi Ishikawa, Takashi Kitazawa, Kentaro Fujimori, Masahiro Sekiguchi, Yoshihiro Gocho, Yuki Arakawa, Shigeo Fuji, Eri Watanabe, Kazumi Tsuchiya, Toru Uchiyama, Takao Deguchi, Akihiro Iguchi, Daisuke Tomizawa, Kimikazu Matsumoto, Toshinao Kawai, Hirotoshi Sakaguchi","doi":"10.1002/1545-5017.70567","DOIUrl":"10.1002/1545-5017.70567","url":null,"abstract":"","PeriodicalId":19822,"journal":{"name":"Pediatric Blood & Cancer","volume":" ","pages":"e70567"},"PeriodicalIF":2.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593179","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}