Journal of Pediatric Hematology/Oncology最新文献

{"title":"Disseminated Ganciclovir-Resistant Cytomegalovirus in a Nontransplant Pediatric ALL Patient: A Case Report.","authors":"Marielys Collazo-Roman, Jodi O'Connor, William S Wilson, Andrew Smitherman, Thomas Belhorn, Zachary Willis","doi":"10.1097/MPH.0000000000003263","DOIUrl":"10.1097/MPH.0000000000003263","url":null,"abstract":"<p><strong>Background: </strong>Cytomegalovirus (CMV) infection is an underrecognized complication in children with acute lymphoblastic leukemia (ALL). While CMV disease is well documented in transplant recipients, its clinical course in nontransplant settings remains poorly defined. Disseminated ganciclovir-resistant CMV infection is a rare complication in nontransplant children with ALL, and its optimal management remains uncertain.</p><p><strong>Observations: </strong>We describe an 8-year-old patient with T-ALL receiving maintenance chemotherapy who developed high levels of CMV viremia without initial end-organ disease and subsequent emergence of ganciclovir-resistant CMV infection. Despite prolonged valganciclovir therapy and the subsequent use of foscarnet and maribavir, the patient developed CMV-related complications, including CMV retinitis.</p><p><strong>Conclusion: </strong>This case underscores the potential severity of CMV in nontransplant pediatric ALL with prolonged lymphopenia, challenges of antiviral resistance, and limited treatment options for central nervous system involvement. The progression from asymptomatic viremia to clinically significant CMV disease remains poorly understood. Enhanced CMV surveillance protocols and resistance-guided treatment strategies may be warranted in selected high-risk populations.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e285-e288"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13608318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148764933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased 18 F-FDG Avidity on PET/CT During Treatment for Rhabdomyosarcoma Confirmed to Be Mature Rhabdomyoblasts.","authors":"Nicole Baca, Fataneh Majlessipour, Christopher T Watterson, Bonnie Balzer, Behrooz Hakimian, Daniel C Allison, Leo Mascarenhas","doi":"10.1097/MPH.0000000000003239","DOIUrl":"10.1097/MPH.0000000000003239","url":null,"abstract":"<p><strong>Background: </strong>Fluorine-18 fluorodeoxyglucose positron emission tomography ( 18 F-FDG-PET) is useful for staging rhabdomyosarcoma. Using this modality as a predictor of outcome and for disease surveillance in rhabdomyosarcoma is conflicting.</p><p><strong>Observations: </strong>Case report of an adolescent being treated for metastatic fusion-positive rhabdomyosarcoma who had a new 18 F-FDG-PET avid focus in the radiation field of the primary site with increasing standard uptake value during systemic chemotherapy and primary tumor local therapy that was worrisome for disease progression.</p><p><strong>Conclusions: </strong>This lesion was resected and confirmed as terminally cytodifferentiated (mature) rhabdomyoblasts on histopathology. He remains in remission 26 months following resection and 20 months following treatment.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e345-e348"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148376198","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":"The Role of STAG2, CDKN2A, and TP53 Genes in Ewing Sarcoma: A Report of a Rare Case of Primary Ewing Sarcoma of the Kidney With Favorable Outcome.","authors":"Alyssa M Greenwell, Avanti Gupte, Ali G Saad, Hamza S Gorsi","doi":"10.1097/MPH.0000000000003244","DOIUrl":"10.1097/MPH.0000000000003244","url":null,"abstract":"<p><strong>Background: </strong>Primary renal Ewing sarcoma (EWS) is a rare but aggressive pediatric malignancy with poor outcomes and limited knowledge of its behavior and biology. The use of molecular markers as prognostic factors and local control strategies with surgical resection and radiation is not well-described for renal EWS.</p><p><strong>Observation: </strong>We document a case of stage IV renal EWS with 4.5 years of durable remission.</p><p><strong>Conclusion: </strong>We hypothesize the favorable outcome may be associated with the lack of specific genomic signatures (STAG2, CDKN2A, and TP53) and the use of upfront surgical resection followed by radiation for local control.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":"48 7","pages":"e314-e317"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149075058","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":"Evaluation for Nonaccidental Trauma and Bleeding Disorders in Infants Referred to Pediatric Hematology.","authors":"Abbey Elsbernd, Lyndsey Hultman, James Anderst, Shannon L Carpenter","doi":"10.1097/MPH.0000000000003289","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003289","url":null,"abstract":"<p><p>The most common presentation for both pediatric nonaccidental trauma (NAT) and bleeding disorders is bruising. In nonmobile infants with bruising, NAT evaluation is recommended. We aimed to assess the evaluation for NAT in patients below 9 months of age presenting with bruising and/or bleeding to our pediatric hematology clinic. A single-center retrospective chart review was performed on children aged below 9 months referred to pediatric hematology. Patients were eligible if their visit included ICD-10 diagnosis codes for bleeding and/or bruising, bleeding disorders, or nonaccidental trauma, or if the visit reason was listed as bleeding and/or bruising. Demographics, symptoms, family history, diagnostic evaluation performed, and diagnoses were collected. 26 infants were included. Twelve (46.2%) received a complete evaluation for NAT, and 9 (34.6%) underwent a partial evaluation. A total of 5 patients (19.2%) received no NAT evaluation. A total of 11 patients (42.3%) were diagnosed with NAT, and 7 (26.9%) were diagnosed with a bleeding disorder. Only 1 patient was diagnosed with both a bleeding disorder and NAT. Of the 11 patients ultimately diagnosed with NAT, 2 received no evaluation before hematology evaluation. This study highlights the importance of thorough evaluation for abuse and bleeding disorders alongside ongoing coordination between hematologists and child abuse pediatricians.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149111045","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":"Extracorporeal Membrane Oxygenation for Pneumocystis jirovecii Pneumonia in a Child With Multisystem Langerhans Cell Histiocytosis.","authors":"Vivek Mohan, Sanjay Kumar, Akashneel Bhattacharya, Rahul Naithani","doi":"10.1097/MPH.0000000000003248","DOIUrl":"10.1097/MPH.0000000000003248","url":null,"abstract":"<p><strong>Background: </strong>Pneumocystis jirovecii pneumonia (PJP) is a rapidly progressive and potentially fatal opportunistic infection in non-HIV immunocompromised children. Mortality is particularly high when PJP progresses to acute respiratory distress syndrome (ARDS). The role of extracorporeal membrane oxygenation (ECMO) in this setting remains limited to select reports.</p><p><strong>Case presentation: </strong>We report a 3-year-old boy with multisystem Langerhans cell histiocytosis receiving vinblastine and corticosteroids who developed severe PJP during consolidation therapy. Despite early initiation of high-dose trimethoprim-sulfamethoxazole, adjunctive corticosteroids, and escalation to invasive mechanical ventilation, he developed refractory hypoxemic and hypercapnic respiratory failure. Bronchoalveolar lavage multiplex polymerase chain reaction confirmed Pneumocystis jirovecii with concurrent Klebsiella pneumoniae . In the absence of hemodynamic compromise or multiorgan dysfunction, venovenous (V-V) ECMO was initiated as rescue support. Rapid improvement in gas exchange allowed decannulation on day 6 and extubation by day 8. Radiologic resolution occurred within 2 weeks. The child completed antimicrobial therapy, resumed maintenance chemotherapy, and remains well at 10-month follow-up on secondary PJP prophylaxis.</p><p><strong>Conclusion: </strong>This case underscores the importance of early recognition and aggressive supportive care. In selected patients with isolated, potentially reversible respiratory failure, timely initiation of V-V ECMO can be lifesaving and may facilitate recovery while definitive antimicrobial therapy takes effect.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e329-e331"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148471487","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":"A Rare BCR::SPECC1L::ABL1 Fusion in a Pediatric Chronic Myeloid Leukemia Patient.","authors":"Ege Cubuk, Anindita Ghosh, Pamela E Camacho, Andrea N Marcogliese, Angshumoy Roy, Pulivarthi H Rao, Dolores H Lopez-Terrada, Jennifer Scull, Kevin E Fisher","doi":"10.1097/MPH.0000000000003259","DOIUrl":"10.1097/MPH.0000000000003259","url":null,"abstract":"<p><strong>Background: </strong>Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm typically defined by BCR::ABL1 p210 fusions isoforms.</p><p><strong>Observations: </strong>An 8-year-old female CML patient harbored a typical t(9;22)(q34;11) Philadelphia chromosome and BCR::ABL1 fusion by conventional karyotyping and FISH but lacked BCR::ABL1 p210 fusion transcripts by RT-PCR. Targeted next-generation sequencing (NGS) revealed BCR :: SPECC1L :: ABL1 fusion transcripts predicted to encode an in-frame BCR-exon-8::SPECC1L-exon-4::ABL1-exon-2 fusion protein retaining the tyrosine kinase domain. FISH and NGS were used for therapeutic imatinib monitoring given this atypical isoform.</p><p><strong>Conclusions: </strong>This case highlights the role of multimodal molecular diagnostics to diagnose and monitor pediatric CML patients with atypical fusion isoforms.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e318-e322"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148701547","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":"A Rare Cause of Chronic Neutropenia and Failure to Thrive in Early Childhood: TOM1-Associated Disease.","authors":"Ankita Chakraborty, Manas Kalra, Shekhar Biswas","doi":"10.1097/MPH.0000000000003252","DOIUrl":"10.1097/MPH.0000000000003252","url":null,"abstract":"","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"364-365"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148471384","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":"Allogenic Hematopoietic Stem Cell Transplantation in Children With Transfusion Dependent Thalassemia Using Treosulfan-Thiotepa-Fludarabine Based Conditioning.","authors":"Sunisha Arora, Sohini Chakraborty, Neha Rastogi Panda, Shrinidhi Nathany, Vaibhav Chadha, Satyendra Batra, Parminder Pal Singh, Madhur Arora, Anusha Swaminathan, Surbhi Pokhriyal, Bharti Sharma, Rahul Bhargava, Vikas Dua","doi":"10.1097/MPH.0000000000003246","DOIUrl":"10.1097/MPH.0000000000003246","url":null,"abstract":"<p><strong>Introduction: </strong>Allogenic hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment modality in patients with transfusion-dependent thalassemia (TDT). Over the past decade, there has been a shift towards reduced-toxicity conditioning regimens such as Treosulfan-Thiotepa-Fludarabine (TTF) due to its favorable toxicity profile, potent immunosuppression, and myeloablative effects. This study explores the outcomes of TTF-based conditioning in pediatric TDT patients undergoing allogenic HSCT.</p><p><strong>Methods: </strong>This is a single-center retrospective analysis of 74 pediatric patients who underwent allogenic HSCT using the TTF conditioning regimen at our center from January 2017 to May 2025.</p><p><strong>Results: </strong>The median age at transplant was 6.2 years (range: 1 to 18 y) and Male: female was 1.8:1. Donor types included matched sibling donor (MSD) in 45 patients (60.8%), matched unrelated donor (MUD) in 16 (21.6%), haploidentical donor in 9 (12.2%) and matched related donor (MRD) in 4 patients (5.4%). Pesaro classes I, II, and III were seen in 24 (32.4%), 32 (43.2%), and 18 (24.3%) patients, respectively. Peripheral blood was the stem cell source in all patients. Median stem cell dose was 5.2 million/kg (range: 4.2 to 6.5 million/kg). Four patients (5.4%) had primary graft failure. In the remaining patients, neutrophil and platelet engraftment occurred at a median of 14 days (range: 11 to 25 d) and 18 days (range: 13 to 36 d), respectively. Mixed chimerism was observed in 10 (13.5%) patients, of whom 2 developed secondary graft failure with autologous recovery. Acute and chronic graft-versus-host disease occurred in 25 (33.7%) and 7 (9.4%) patients, respectively. Cytomegalovirus reactivation was seen in 42 patients (56.7%). Six children (8.1%) suffered from veno-occlusive disease. At a median follow-up of 45.2 months (range: 1.5 to 102 mo), 5-year overall and thalassemia-free survival were 82.2% and 77.7%, respectively. Subgroup analysis by Pesaro classification showed 5-year OS rates of 83.9% for class 1+2 and 78.6% for class 3 ( P =0.28). Five-year TFS was 82% for class 1+2 and 65.5% for class 3 ( P =0.049). When comparing matched sibling and matched related donor transplants with alternate donor transplants (haploidentical and matched unrelated), the 5-year OS and TFS were significantly higher in the matched donor group (95% vs. 57.3%, P =0.001, and 88.3% vs. 57.3%, P =0.024).</p><p><strong>Conclusion: </strong>TTF conditioning with a peripheral blood stem cell graft is a well-tolerated and effective approach for allogeneic HSCT in thalassemia. It demonstrates reduced toxicity and favorable transplant outcomes, with superior results in the matched family donor setting compared with the alternate donor group, supporting its role as a promising alternative to traditional busulfan-based conditioning regimens.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e292-e298"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148471496","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":"Severe Veno-Occlusive Disease in a Child With Wilms Tumor: Acute Management and Subsequent Bridging With Irinotecan Treatment.","authors":"Jessica Chumsky, Mahvish Rahim, Rachel Offenbacher, Elizabeth A Mullen, Mark Shlomovich, David M Loeb, Daniel Weiser","doi":"10.1097/MPH.0000000000003253","DOIUrl":"10.1097/MPH.0000000000003253","url":null,"abstract":"<p><strong>Background: </strong>Hepatic veno-occlusive disease (VOD) is an endothelial injury seen after stem cell transplantation that can also occur with conventional chemotherapies. Morbidity can be significant, highlighting the need for effective supportive care.</p><p><strong>Case report: </strong>We present a pediatric patient with Wilms tumor who developed VOD after dactinomycin and vincristine. Management included a molecular adsorbent recirculating system (MARS) for acute liver failure and irinotecan with vincristine (VI) as bridging chemotherapy before gradual reintroduction of dactinomycin.</p><p><strong>Conclusion: </strong>The patient remains in remission without long-term VOD complications. MARS facilitated hepatic recovery, and disease control was maintained with VI serving as a low-hepatotoxic bridging regimen before rechallenging with dactinomycin.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e308-e311"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148549560","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":"Pediatric Gastric GIST With SDHA Truncation Despite Retained SDHB Staining: A Case Report.","authors":"Riho Tanimura, Mari Korogi, Ryo Otaka, Robin L Jones","doi":"10.1097/MPH.0000000000003262","DOIUrl":"10.1097/MPH.0000000000003262","url":null,"abstract":"<p><strong>Background: </strong>Loss of SDHB by immunohistochemistry (IHC) is a practical screening marker for SDH-deficient GIST.</p><p><strong>Observation: </strong>A 14-year-old boy had a gastric GIST (KIT/DOG1 positive). Next-generation sequencing identified a truncating SDHA variant (c.1401T>A, p.Cys467Ter). Notably, SDHB IHC was strongly positive despite molecular evidence of SDH deficiency.</p><p><strong>Conclusions: </strong>Retained SDHB staining does not exclude SDH-deficient GIST. When clinicopathologic features suggest SDH deficiency, comprehensive molecular testing-including germline assessment-should be pursued, even in the context of SDHB positivity, to avoid false reassurance and to inform counseling and surveillance.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e312-e313"},"PeriodicalIF":0.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148794708","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}