Journal of Pediatric Hematology/Oncology最新文献

{"title":"Prognostic Features of Pediatric Primary Hemophagocytic Lymphohistiocytosis With CNS Involvement.","authors":"Chenzi Zhao, Qing Zhang, Haoyue Jia, Sitong Chen, Liping Zhang, Rui Zhang, Zhigang Li","doi":"10.1097/MPH.0000000000003071","DOIUrl":"10.1097/MPH.0000000000003071","url":null,"abstract":"<p><p>In this study, we analyzed genetic variation and prognostic factors in pediatric primary hemophagocytic lymphohistiocytosis (pHLH) with central nervous system (CNS) involvement, based on data from patients treated at Beijing Children's Hospital between September 2017 and September 2022. A total of 67 pHLH patients were included, with a median age of 4.3 years. Our findings revealed distinct genetic mutation distributions between CNS-pHLH and pHLH without CNS involvement; specifically, CNS-pHLH patients had significantly fewer XIAP mutations but more PRF1 mutations ( P =0.006 and 0.002, respectively). In addition, the 3-year overall survival (OS) rate for CNS-pHLH patients was markedly lower compared with those without CNS involvement (50.2%±18.42% vs. 93.3%±9.02%, P <0.001). Hematopoietic stem cell transplantation (HSCT) was strongly associated with better prognosis in CNS-pHLH patients, yielding a 3-year OS of 82.0%±23.91% in transplanted patients, significantly higher than the 28.6%±19.40% in nontransplanted patients ( P <0.001). Furthermore, a Cox regression analysis identified PRF1 mutation, cerebrospinal fluid (CSF) soluble CD25 levels above 280 pg/mL, and elevated ferritin levels as independent risk factors for poor 3-year event-free survival (EFS) in CNS-pHLH ( P <0.05). These findings suggest that pHLH patients with PRF1 mutations should undergo regular CNS monitoring to prevent disease progression, and that HSCT may improve long-term prognosis in CNS-pHLH cases.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"291-296"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475744","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":"Delayed Rewarming Thrombocytopenia Not Disseminated Intravascular Coagulation, is the Cause of Rewarming Deaths in Neonatal Cold Injury.","authors":"Ian J Cohen","doi":"10.1097/MPH.0000000000003065","DOIUrl":"10.1097/MPH.0000000000003065","url":null,"abstract":"<p><p>Disseminated intravascular coagulation (DIC) was suspected of being the cause of fatal rewarming deaths in neonatal cold injury (NCI) in the absence of any other known explanation for this complication. It was associated with thrombocytopenia, bleeding, and abnormal clotting studies. Subsequently, this suspicion was questioned because of the reversibility of thrombocytopenia and more recently because of the delineation of a new entity DRT (delayed rewarming thrombocytopenia) that better explained the clinical and laboratory features of this condition. The sudden bleeding that occurs after 24 hours of hypothermia is explained by the reappearance, on rewarming, of the second stage of (irreversible) platelet aggregation that does not occur below 32°C, and the presence of high levels of ADP that leak from erythrocytes. It is recommended that DRT should be treated by rapid rewarming, blocking of the second phase of platelet aggregation or platelet transfusions rather than replacement therapy with several clotting factors that would be appropriate in DIC.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"303-306"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266449","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":"Wilms Tumor and Paraneoplastic Syndromes: Unusual Presentation With Acquired von Willebrand Disease, Polycythemia and Hyperviscosity-A Comprehensive Case Report and Literature Reviews.","authors":"Marina Parisi Dutra, Lilian Maria Cristofani, Maria Teresa Assis de Almeida, Vicente Odone Filho, Roberto Augusto Plaza Teixeira","doi":"10.1097/MPH.0000000000003055","DOIUrl":"10.1097/MPH.0000000000003055","url":null,"abstract":"<p><p>A 10-month-old child presenting with renal tumor with polycythemia, acquired von Willebrand disease, and elevated serum hyaluronic acid, leading to a diagnosis of Wilms tumor. Laboratory profile showed elevated levels of hemoglobin and hematocrit, prolonged aPTT, and high levels of hyaluronic acid and erythropoietin, which normalized after chemotherapy and tumor resection. She had a complete response and has remained in remission. Paraneoplastic syndromes are rare manifestations of Wilms tumor (WT). The simultaneous occurrence of distinct types, as demonstrated in this report (polycythemia, hyperviscosity, and coagulopathy), has not been previously reported. This unique presentation poses a challenge for both diagnostic and clinical management.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"307-310"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475747","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":"Critical Complication in Childhood Leukemia: Neutropenic Enterocolitis, Risk Factors, and Outcomes.","authors":"Ayca Koca Yozgat, Rabia D Kilçik, Selin Çetin, Buket Altintaş, Dilara Aydoğdu, Merve İlsol, Fatma B Kurtipek, Çiğdem Bulut, Melek Işik, Dilek Kaçar, Özlem Arman Bilir, Neşe Yarali","doi":"10.1097/MPH.0000000000003064","DOIUrl":"10.1097/MPH.0000000000003064","url":null,"abstract":"<p><strong>Objective: </strong>Neutropenic enterocolitis is characterized by inflammation of the cecum and distal ileum. The clinical triad consists of fever, abdominal pain, neutropenia, and imaging findings of colonic inflammation. Herein, we report the clinical characteristics, imaging findings and risk factors of typhlitis in pediatric patients with leukemia.</p><p><strong>Methods: </strong>In this retrospective study, 72 pediatric patients who were followed up due to acute lymphoblastic or myeloblastic leukemia and diagnosed with typhlitis were evaluated between August 2019 and March 2023. Typhlitis was diagnosed based on the presence of neutropenia (absolute neutrophil count [ANC] <500/mm³ or an ANC expected to decrease to <500/mm³ within the next 48 h), at least one clinical symptom or sign, and confirmatory imaging showing cecum wall thickness >3 mm on ultrasonography. Patients' data regarding age, sex, chemotherapy regimens, clinical symptoms, port/catheter and peripheral blood cultures, imaging findings, comorbidities, length of hospital stay, management of typhlitis, and mortality rates were evaluated.</p><p><strong>Results: </strong>Neutropenic enterocolitis was diagnosed in 72 children based on clinical and imaging features with an incidence of 36% (5 patients had recurrent episodes). Common manifestations included abdominal pain (81.8%), fever (48.1%), and diarrhea (42.9%). The most isolated organism in patients' port catheter and peripheral blood cultures was Klebsiella pneumonia. The most frequently affected bowel segments as seen on ultrasonograms were the cecum and terminal ileum (37.7%). The mean wall thickness was 4.6±1.7 mm. The median duration of intravenous broad-spectrum antibiotic treatment in our patients was 13 days (range: 8 to 24). The mean time to resume chemotherapy in our patients was 13.6±15.5 days. The median hospital stay of patients due to neutropenic enterocolitis was prolonged by 12 days. Surgical intervention was performed in three patients due to intestinal perforation. Four patients (5%) died due to neutropenic enterocolitis and sepsis. Patients who died from typhlitis and sepsis had a longer duration of typhlitis, although this difference was not statistically significant in terms of mortality rates.</p><p><strong>Conclusion: </strong>Neutropenic enterocolitis is a complex clinical challenge that requires early diagnosis and a multidisciplinary approach. It should be suspected in any patient who developed neutropenia because of chemotherapy and presents with gastrointestinal symptoms such as nausea, vomiting, diarrhea, and severe abdominal pain.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e231-e234"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266448","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":"Ecthyma Gangrenosum due to Pseudomonas aeruginosa in Children With Acute Lymphoblastic Leukemia.","authors":"Fatma Burçin Kurtipek, Kübra Ekici, Saliha Kanik Yüksek, Seval Özen, Sabri Demir, Neşe Yarali","doi":"10.1097/MPH.0000000000003073","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003073","url":null,"abstract":"","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":"47 6","pages":"e285-e287"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698889","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":"Clinical Implications of Solitary Subependymal Giant Cell Astrocytoma in the Absence of Tuberous Sclerosis Complex: Case Series and Comprehensive Literature Review.","authors":"Shea Gallus, Alexa Markl, Ben Posorske, Nishant Tiwari, Michael Kuwabara, Lisa Keller, Lindsey M Hoffman, Ross Mangum","doi":"10.1097/MPH.0000000000003063","DOIUrl":"10.1097/MPH.0000000000003063","url":null,"abstract":"<p><p>Subependymal giant cell astrocytoma (SEGA) is a slow-growing glial or glioneuronal tumor that almost exclusively occurs in patients with Tuberous Sclerosis Complex (TSC), a rare autosomal dominant condition that causes growth of benign tumors throughout the body. Herein, we present 4 cases of isolated SEGA in patients with negative germline testing for TSC alterations and present a comprehensive literature review of other cases of sporadic SEGA. This case series emphasizes the importance of considering SEGA on the differential diagnosis for periventricular tumors even in the absence of other sequelae of TSC and illustrates the importance of long-term monitoring for tuberous sclerosis-related complications.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"311-320"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475741","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":"Cerebral Adrenoleukodystrophy: Characteristics of 10 Cases Including 6 Patients Without Neurologic Symptoms.","authors":"Yafeng Wang, Dandan Liu, Haili Gao, Wei Liu, Yanna Mao","doi":"10.1097/MPH.0000000000003069","DOIUrl":"https://doi.org/10.1097/MPH.0000000000003069","url":null,"abstract":"<p><p>The objective of this study is to present the characteristics of cerebral type adrenoleukodystrophy (cALD) and our hematopoietic stem cell transplantation (HSCT) experience in treating cALD. A retrospective analysis and summary of the clinical data pertaining to 10 patients after allogeneic HSCT (allo-HSCT) was conducted from June 2020 to October 2023. Six patients exhibited no neurological symptoms, and MRI of 5 cases revealed no abnormalities at the onset of the disease. The 3-year overall survival (OS) and event-free survival (EFS) rate was 90.0% (95% CI: 69.4-100.0) and 65.6% (95% CI: 35.6-98.4), respectively. Survival analysis showed unrelated donor choice was associated with a superior OS and EFS compared with related donor sources, but these differences were not statistically significant (P=0.414, 0.184). cALD patients without magnetic resonance imaging (MRI) abnormalities at the initial onset of the disease increased the OS compared with the patients with MRI abnormalities, and the OS of patients with NFS=0 was superior before HSCT to those with NFS ≥1, however, the differences were not significant. But the EFS was obviously superior to those cALD patients with abnormal MRI status (P=0.013) at the initial onset of the disease and neurological functional symptoms before HSCT (P=0.023). Early screening is necessary for children with a family history of suspected genetic diseases and atypical neurological symptoms to improve allo-HSCT outcomes.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":"47 6","pages":"284-290"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698888","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":"Acute Encephalopathy in 3 Adolescent Patients With Acute Lymphoblastic Leukemia During Induction Chemotherapy: A Case Series.","authors":"Vivien W Y Li, Annie T G Chiu, Grace K S Lam, Sheila S N Wong, Wai L Yeung, Alex W K Leung","doi":"10.1097/MPH.0000000000003074","DOIUrl":"10.1097/MPH.0000000000003074","url":null,"abstract":"<p><p>Three adolescent patients with B-cell acute lymphoblastic leukemia (B-ALL) presented with psychotic symptoms, mutism, movement disorders, and day-night disturbances during induction chemotherapy, which clinically resembled anti-NMDAR encephalitis. However, all patients were negative for anti-NMDAR antibodies. They also experienced chemotherapy-induced liver dysfunction, weight loss, and malnutrition, which led to biochemical changes (elevated blood ammonia, elevated blood glutamate, and copper deficiency) known to affect NMDA receptor activity. This suggests that there may be some common, undefined pathways in these 2 different pathologies. Early nutritional intervention should be considered for patients who may be at risk for this significant neurotoxicity.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"e260-e264"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144497380","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":"Capturing Fertility: A Qualitative Exploration of Retention of a Fertility Consult in Sickle Cell Disease.","authors":"Mahvish Q Rahim, Derrick L Goubeaux, Christina Ebenroth, Aikaterini Voulgaridou, Seethal A Jacob, Amanda J Saraf","doi":"10.1097/MPH.0000000000003056","DOIUrl":"10.1097/MPH.0000000000003056","url":null,"abstract":"<p><p>This qualitative study assessed the perceptions of caregivers of adolescents with sickle cell disease regarding fertility preservation consultation before stem cell transplant, through semistructured interviews. We interviewed 7 caregiver-adolescent dyads and 1 caregiver whose child didn't meet inclusion criteria due to age. Thematic analysis revealed 3 major inter-related themes: burden of sickle cell disease, decisional regret about reproductive choices, and hope that infertility would not impact them. Our study found that comprehension about the potential for infertility varied significantly, with a strong underlying hope that infertility will not impact them. Many of our caregivers and adolescents indicated decisional regret, suggesting they would now make a different choice about fertility preservation before transplant. Conversations and communication surrounding infertility in the setting of stem cell transplant is vital for our patients to understand the long-term impacts of curative therapy, to best ensure that their long-term quality of life goals will be met. Though the recent movement towards reduced intensity conditioning regimens in SCT may prove less gonadotoxic, fertility outcome data are not yet known. This study underscores the importance of effective communication during dedicated fertility consultations to help families make informed decisions for their children.</p>","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"297-302"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248327","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":"Pyrites: A Chest Mass.","authors":"Sam Lyvannak, Thy Bunpaov, Bun Sereyleak, Has Sothearak, Um Khemuoy, Jason Jarzembowski, Bruce Camitta","doi":"10.1097/MPH.0000000000003062","DOIUrl":"10.1097/MPH.0000000000003062","url":null,"abstract":"","PeriodicalId":16693,"journal":{"name":"Journal of Pediatric Hematology/Oncology","volume":" ","pages":"324-325"},"PeriodicalIF":0.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475745","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}