Sai S Ganachari, Prasanth V Rajendran, Priyakumari Thankamony, Manjusha Nair, Binitha Rajeswari, Guruprasad C Sojamani, Kalasekhar Vijayasekharan, Preethi S George
{"title":"Neuroblastoma With Opsoclonus-Myoclonus Ataxia Syndrome: A 10-Year Experience From a Low- and Middle-Income Country Setting.","authors":"Sai S Ganachari, Prasanth V Rajendran, Priyakumari Thankamony, Manjusha Nair, Binitha Rajeswari, Guruprasad C Sojamani, Kalasekhar Vijayasekharan, Preethi S George","doi":"10.1097/MPH.0000000000003234","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003234","url":null,"abstract":"<p><p>Neuroblastoma (NB) associated with opsoclonus-myoclonus ataxia syndrome (NB-OMAS) has a favorable cancer prognosis but complicated long-term neurological sequelae. The aim was to evaluate the clinical profile and outcomes of NB-OMAS in children at a single tertiary care center in India. Children aged younger than 14 years with NB-OMAS treated between January 1, 2013 and December 31, 2022, were retrospectively analyzed. Among 189 children with NB, 12 (6.3%) had OMAS. The mean age at diagnosis was 17.17±5.35 months. All patients were either stage L1 or L2; 7 (58.3%) had NB diagnosed before 18 months of age, and 9/12 (75%) had low-risk NB. Ataxia (83.3%) and opsoclonus (66.6%) were common symptoms with a mean symptom duration of 12.08±12.05 months. The mean OMAS score significantly improved from 6.17±2.87 (baseline) to 0.75±1.21 (treatment completion) (P=0.002). Immunosuppressive therapy (IST) was given for a mean duration of 15.14±6.59 months to 58.3% of patients. At a median follow-up of 16.5 months (range: 3 to 118 mo), 91.7% and 75% had complete remission of NB and OMAS, respectively. Higher OMAS scores at presentation predicted prolonged symptoms (P=0.001) and incomplete OMAS response (P=0.048). Four (33%) had developmental delay at the last follow-up. In an LMIC setting, NB-OMAS has excellent oncological outcomes, but long-term neurological challenges remain, especially for children with a high OMAS score.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":"48 6","pages":"298-304"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148584633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Thomas R Cochran, Joy Fulbright, Samantha Butrous, Brian Lee, Keith August, Simren Jayaraman, David A White
{"title":"Frailty in Children and Adolescents With Acute Lymphoblastic Leukemia or Lymphoblastic Lymphoma Receiving Maintenance Chemotherapy-A Pilot Study.","authors":"Thomas R Cochran, Joy Fulbright, Samantha Butrous, Brian Lee, Keith August, Simren Jayaraman, David A White","doi":"10.1097/MPH.0000000000003217","DOIUrl":"10.1097/MPH.0000000000003217","url":null,"abstract":"<p><p>Frailty is a measure of global infirmity and impaired physical function that has been correlated with adverse health outcomes and an elevated incidence of mortality in adult childhood cancer survivors. The aim of this study is to assess the frailty phenotype in youth receiving maintenance chemotherapy for acute lymphoblastic leukemia or lymphoblastic lymphoma. Children and adolescents diagnosed with acute lymphoblastic leukemia or lymphoblastic lymphoma in the first cycle of their maintenance chemotherapy were prospectively recruited. Frailty was assessed at an initial visit in cycle 1 of maintenance treatment (V1) and 6 months following (V2). Frailty points were assigned for each domain, which generated a composite score ranging from 0 (least frail) to 25 (most frail). Paired analysis of the V2 frailty assessment demonstrated significant improvement in exhaustion/fatigue ( P <0.001) and composite frailty score ( P =0.003). Children receiving maintenance chemotherapy scored poorly in all 5 domains of frailty, with improvement in some subdomains and composite scores. Improvement in exhaustion and composite frailty score was noted at V2 without any targeted interventions. Given that frailty has been shown to persist into adulthood in survivors of childhood cancer, frailty assessment may be an effective tool for identifying patients who may require additional intervention before adulthood.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"270-276"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148218205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sara Ashraf Attia, Marwa Zakaria, Tamer Hassan, Samar Mahmoud Elbahy
{"title":"Evaluation of Safety and Efficacy of Romiplostim in the Treatment of Pediatric Immune Thrombocytopenia: A Real-World Observational Study.","authors":"Sara Ashraf Attia, Marwa Zakaria, Tamer Hassan, Samar Mahmoud Elbahy","doi":"10.1097/MPH.0000000000003233","DOIUrl":"10.1097/MPH.0000000000003233","url":null,"abstract":"<p><p>Romiplostim, a thrombopoietin receptor agonist, is a second-line therapy for primary immune thrombocytopenia (ITP). This real-world observational study evaluated romiplostim safety and efficacy in 52 children with persistent/chronic ITP. Baseline and follow-up data were retrospectively collected from patients' files. Primary endpoints: platelet response rate and time to first response. Secondary endpoints: durable response rate, safety, and health-related quality of life (HRQoL) using (PedsQL 4.0). Romiplostim decreased significant bleeding frequency (from 76.9% to 34.6%, P =0.003), hospital admission rate (from 69.2% to 7.7%, P <0.001), and rescue medication use (from 65.4% to 11.5%, P <0.001). In all, 92.3% of patients achieved platelet response in a median of 1 month, and 80.8% achieved a durable response. The most frequent adverse events were headache and joint pain; no serious adverse events occurred. Platelet count was positively correlated with HRQoL in parent-proxy reports ( P <0.05). In linear regression univariate analysis, platelet count ≥100×10 9 /L was associated with better parent-proxy HRQoL ( P =0.004) but not after multivariate adjustment, while joint pain remained independently associated with lower parent-proxy HRQoL. Beyond confirming the efficacy and safety of romiplostim, this study supports the sequential use of thrombopoietin receptor agonists, as romiplostim was still effective in patients who did not respond to previous treatment with eltrombopag.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e224-e231"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148252063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Unresponsive Systemic Mastocytosis in a Young AML With RUNX1::RUNX1T1 Fusion With Rare KIT c.1255_1257delGAC Mutation: A Clinical Deadlock.","authors":"Vinu Balraam Kv, Amiya R Nayak, Jasmita Dass, Richa Chauhan, Ganesh K Viswanathan, Mukul Aggarwal, Pradeep Kumar, Rishi Dhawan, Tulika Seth, Manoranjan Mahapatra","doi":"10.1097/MPH.0000000000003232","DOIUrl":"10.1097/MPH.0000000000003232","url":null,"abstract":"<p><strong>Background: </strong>Systemic mastocytosis (SM) with associated acute myeloid leukemia (AML) is a rare malignancy usually linked to KIT p.D816V mutations.</p><p><strong>Observations: </strong>We report a 17-year-old female with RUNX1::RUNX1T1 -positive AML and florid mast cell proliferation harboring a rare KIT exon 8 deletion (p.Asp419del). Diagnosis required integration of morphology, immunophenotyping, and polymerase chain reaction, as routine NGS failed to detect the mutation. Despite remission following intensive chemotherapy and imatinib, the patient developed persistent mastocytosis and succumbed to septic shock.</p><p><strong>Conclusions: </strong>This first reported case of SM-AML with KIT p.Asp419del highlights the need for comprehensive molecular testing and tailored therapy in atypical presentations.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"283-286"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148330543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hussien Ahmed H Abdelgawad, Kathleen Hinkle, Briana Fodor, Andrew Ritchey, Scott Ostdiek, Wassim Ballan, Alexandra Walsh
{"title":"Assessment of Immunization Status Following Non-HSCT Chemotherapy-treated Pediatric Leukemia Survivors.","authors":"Hussien Ahmed H Abdelgawad, Kathleen Hinkle, Briana Fodor, Andrew Ritchey, Scott Ostdiek, Wassim Ballan, Alexandra Walsh","doi":"10.1097/MPH.0000000000003230","DOIUrl":"10.1097/MPH.0000000000003230","url":null,"abstract":"<p><strong>Background: </strong>Chemotherapy for pediatric leukemia induces profound immunosuppression, resulting in waning protection against vaccine-preventable diseases. Despite high survival rates, standardized revaccination protocols for non-transplant survivors remain controversial. We aimed to assess the serologic immunity to measles, mumps, rubella, and varicella among pediatric leukemia survivors and to identify clinical and treatment-related determinants of immune persistence.</p><p><strong>Methods: </strong>In this retrospective cohort study, 192 pediatric leukemia survivors treated with non-HSCT chemotherapy at Phoenix Children's Hospital (2021 to 2023) underwent serologic testing for measles, mumps, rubella, and varicella IgG antibodies. Demographic, clinical, and immunization data were retrieved from institutional and state registries. Associations between patient characteristics and serologic immunity were analyzed using logistic regression.</p><p><strong>Results: </strong>At a mean of 6.51 years following chemotherapy completion, the overall seropositivity rates were 37.0% for measles, 40.6% for mumps, 70.8% for rubella, and 24.5% for varicella. Survivors who received post-chemotherapy vaccination demonstrated significantly higher seropositivity for rubella (81.9% vs. 64.1%, P =0.004) and varicella (35.6% vs. 16.3%, P =0.005), with higher but non-significant seropositivity for measles and mumps. Low-risk B-cell acute lymphoblastic leukemia (ALL) patients exhibited higher immunity compared with high-risk patients, with significant differences observed for mumps (53.6% vs. 24.6%, P =0.0009) and rubella (81.2% vs. 66.7%, P =0.039). Moreover, a shorter interval from therapy completion was associated with improved rubella immunity (adjusted OR=0.753; 95% CI: 0.66-0.86). Post-chemotherapy revaccination was independently associated with increased odds of rubella (adjusted OR=4.89; 95% CI: 1.762-13.572) and varicella (adjusted OR=2.65; 95% CI: 1.124-6.26) immunity.</p><p><strong>Conclusion: </strong>Substantial attenuation of vaccine-derived immunity persists years after chemotherapy completion in pediatric leukemia survivors. Both treatment intensity and absence of post-chemotherapy revaccination contribute to impaired long-term humoral immunity. These findings support routine revaccinations for all non-transplant pediatric leukemia survivors and underscore the need for risk-adapted, individualized survivorship immunization strategies.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e264-e272"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Evaluating a Pediatric to Adult Care Transition Program for Adolescents and Young Adults With Sickle Cell Disease: A Program Assessment at Duke University.","authors":"Solei Jones, Nancy Crego, Nirmish Shah, Malinda Teague","doi":"10.1097/MPH.0000000000003227","DOIUrl":"10.1097/MPH.0000000000003227","url":null,"abstract":"<p><strong>Background: </strong>Only 33% to 53% of adolescents and young adults (AYAs) with sickle cell disease (SCD) complete the transition process to adult health systems.</p><p><strong>Objective: </strong>Examine transition-readiness practices in a pediatric SCD ambulatory clinic to identify strengths, gaps, and opportunities to enhance transition preparation for AYAs.</p><p><strong>Methods: </strong>A program evaluation using policy review and data from the American Society of Hematology (ASH) Transition Readiness Assessment Tool was analyzed, and current transition practices were evaluated using the Got Transition Framework.</p><p><strong>Results: </strong>Findings from the ASH tool showed strong knowledge of disease (M=3.26/4) and medication (M=3.33/4) but low confidence in scheduling appointments (M=2.24/4) and understanding insurance (M=1.71/4). Variability in transition readiness across domains and gaps in standardized assessment frequency and documentation were identified. Policy review revealed strengths in early transition education but limited operational guidance for readiness tracking and patient feedback.</p><p><strong>Discussion: </strong>Final program recommendations were (1) integration of the ASH tool into clinic policy with defined roles and assessment frequency; (2) development of age-based transition readiness benchmarks to support longitudinal monitoring and targeted interventions; and (3) implementation of voluntary exit interviews to capture patient-reported transition experiences and guide program improvement.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e216-e223"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148211636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Three-Dimensional Craniofacial Characteristics in Transfusion-Dependent and Non-Transfusion-Dependent Thalassemia Patients.","authors":"Demet Tekeli, Zeynep Ozturk, Umut Özsoy, Yılmaz Yıldırım, O Alphan Kupesiz","doi":"10.1097/MPH.0000000000003237","DOIUrl":"10.1097/MPH.0000000000003237","url":null,"abstract":"<p><strong>Objective: </strong>Anemia in beta-thalassemia leads to extramedullary hematopoiesis and observable craniofacial changes. Unlike traditional 2-dimensional studies in the literature, in this study, we aimed to demonstrate craniofacial changes in transfusion-dependent thalassemia (TDT) and transfusion-independent thalassemia (NTDT) patients in 3 dimensions using the Artec EVA 3D device.</p><p><strong>Methods: </strong>This study enrolled 60 participants, 23 with TDT, 17 with NTDT, and 20 healthy individuals. We digitized participants' faces and conducted 17 measurements on the forehead, nose, cheekbone, and mouth regions, encompassing asymmetry, area, volume, linear dimensions, and geodesic features.</p><p><strong>Results: </strong>Regardless of age, none of the 17 parameters in the TDT group demonstrated significant differences compared with healthy controls, while 6 parameters in the NTDT group did. TDT group parameters did not exhibit significant differences among individuals under 18, whereas 3 parameters in the NTDT group did. Conversely, for participants above 18 years old, 1 parameter in the TDT group and 7 in the NTDT group displayed significant differences.</p><p><strong>Conclusions: </strong>This study provides novel insights by employing 3D craniofacial measurements in thalassemia patients, particularly highlighting data from the NTDT group, where bone marrow suppression from transfusions was not a factor. The study also demonstrates that craniofacial changes can be prevented through regular transfusions.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e232-e240"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148302167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ariel M Strand, Line W L Siggaard, Peder S Wehner, Pernille W Greisen, Birte Engvad, Helene M Nielsen, Dorthe Ørnskov, Michael B Møller, Niels Bjørn, Lone Kroeldrup, Mathias Rathe
{"title":"Synchronous Acute Lymphoblastic Leukemia and Wilms Tumor: Report of a Case and Review of Previous Cases.","authors":"Ariel M Strand, Line W L Siggaard, Peder S Wehner, Pernille W Greisen, Birte Engvad, Helene M Nielsen, Dorthe Ørnskov, Michael B Møller, Niels Bjørn, Lone Kroeldrup, Mathias Rathe","doi":"10.1097/MPH.0000000000003235","DOIUrl":"10.1097/MPH.0000000000003235","url":null,"abstract":"<p><strong>Background: </strong>Multiple primary cancers are rare in pediatric patients and are mostly metachronous. Synchronous primary malignancies are exceedingly rare and pose significant challenges.</p><p><strong>Observation: </strong>This case report and review of previous cases focus on synchronous acute lymphoblastic leukemia (ALL) and Wilms tumor (WT). A systematic literature search identified 3 previous cases, confirming synchronous ALL and WT as a rare occurrence.</p><p><strong>Conclusion: </strong>Simultaneous primary cancers are rare and pose significant diagnostic and therapeutic challenges. Synchronous cancer warrants comprehensive genetic testing, although a genetic predisposition may not be identified. Reporting treatment strategies and outcomes adds to the knowledge regarding these rare cases.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"305-311"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148277880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Wei Wei, Gabriel Q Shaibi, Hamy Temkit, Ted Swing, Alexandra M Walsh, Dorothee Newbern
{"title":"Clinical Use of Inhibin B in Male Adolescent Childhood Cancer Survivors: Correlation With Cyclophosphamide Equivalent Dosing.","authors":"Wei Wei, Gabriel Q Shaibi, Hamy Temkit, Ted Swing, Alexandra M Walsh, Dorothee Newbern","doi":"10.1097/MPH.0000000000003226","DOIUrl":"10.1097/MPH.0000000000003226","url":null,"abstract":"<p><strong>Introduction: </strong>Alkylators are gonadotoxic in a cumulative manner, with overall exposure quantified as the cyclophosphamide equivalent dose (CED). Inhibin B is used as a surrogate marker of fertility in adult male childhood cancer survivors (CCS) treated with alkylators, but information about its relationship with CED over time in the adolescent population is lacking.</p><p><strong>Objective: </strong>To examine whether CED is negatively associated with inhibin B among adolescent male CCS.</p><p><strong>Methods: </strong>This is a retrospective observational study of 110 male CCS at higher risk for infertility. Both predictors for inhibin B values and their variability over time per patient were assessed.</p><p><strong>Results: </strong>CED and inhibin B1 ( r = -0.24, P = 0.03) and B2 ( r -0.27, P = 0.02) are negatively correlated. When CED was dichotomized into 2 groups (< or ≥4 g/m 2 ), patients who received lower doses were found to have significantly higher inhibin B than those with higher doses ( P = 0.03).</p><p><strong>Conclusions: </strong>Our data corroborates previous research, showing a significant association between inhibin B and CED; however, no other significant predictors of inhibin B were identified. More research is needed to determine whether male CCS with unexpectedly low inhibin B levels have poor sperm quality.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e245-e249"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148211591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohammed Al Nuaimi, Albert Catala, Evelyn Elias, Yeon J Lim, Bozana Zlateska, Robert J Klaassen, Geoffrey D E Cuvelier, Conrad Fernandez, Meera Rayar, MacGregor Steele, Yves D Pastore, Sharon Abish, Soumitra Tole, Vicky R Breakey, Josee Brossard, Roona Sinha, Laura Wheaton, Lisa Goodyear, Jeffrey H Lipton, Bruno Michon, Catherine Corriveau-Bourque, Lillian Sung, Yigal Dror, Michaela Cada
{"title":"Outcomes of Dyskeratosis Congenita: Results From the Canadian Inherited Marrow Failure Registry.","authors":"Mohammed Al Nuaimi, Albert Catala, Evelyn Elias, Yeon J Lim, Bozana Zlateska, Robert J Klaassen, Geoffrey D E Cuvelier, Conrad Fernandez, Meera Rayar, MacGregor Steele, Yves D Pastore, Sharon Abish, Soumitra Tole, Vicky R Breakey, Josee Brossard, Roona Sinha, Laura Wheaton, Lisa Goodyear, Jeffrey H Lipton, Bruno Michon, Catherine Corriveau-Bourque, Lillian Sung, Yigal Dror, Michaela Cada","doi":"10.1097/MPH.0000000000003222","DOIUrl":"10.1097/MPH.0000000000003222","url":null,"abstract":"<p><strong>Introduction: </strong>The clinical course, outcome, risk of malignancy, and causes of mortality in the pediatric dyskeratosis congenita (DC) population have been described in a few studies.</p><p><strong>Methods: </strong>Data of patients with DC enrolled in the Canadian Inherited Marrow Failure Registry (CIMFR) between January 2001 and December 2021 were analyzed.</p><p><strong>Results: </strong>Forty-three patients with DC were diagnosed at a median age of 9 years. The underlying mutated genes included DKC1, PARN, RTEL1, TERC, TERT , and TINF2 . Nine patients developed severe bone marrow failure (BMF). Presence of severe BMF was associated with a higher risk of mortality (HR: 7.5). Patients with DC who were diagnosed at a younger age had lower overall survival. No pediatric patients developed malignancy. Eleven patients received a hematopoietic stem cell transplant. Ten patients died due to organ dysfunction, mostly related to DC. All 5 TINF2 patients died, but no patients died in the TERT, TERC , or RTEL1 groups.</p><p><strong>Conclusions: </strong>Pediatric patients with DC have a high mortality rate related to BMF and organ dysfunction, but malignancy is uncommon in this age group. Earlier age at diagnosis and presence of severe BMF could be risk factors for mortality. Patients with the TINF2 genotype tend to have a worse outcome than patients with RTEL1, TERC , and TERT .</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"287-297"},"PeriodicalIF":0.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148211622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}