BackgroundNeuroblastoma (NB) is the most common extracranial solid tumor in children, accounting for approximately 15% of pediatric oncology mortality. While risk-stratified therapy has improved survival, high-risk cases still face poor outcomes. Pretreatment inflammatory markers, including the neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR), have emerged as potential, cost-effective prognostic biomarkers to refine risk assessment and guide treatment intensity.ObjectivesThis study aimed to investigate the associations between pretreatment NLR, PLR, and clinicopathological characteristics, and to evaluate their significance in neuroblastoma risk stratification.MethodsWe conducted a retrospective study of pediatric patients newly diagnosed with neuroblastoma at the Capital Center for Children’s Health, Capital Medical University, between March 2023 and July 2025. Data, including age, International Neuroblastoma Staging System (INSS) classification, and International Neuroblastoma Risk Group Staging System (INRGSS) criteria, were recorded. Pretreatment blood samples were analyzed for neutrophil, lymphocyte, and platelet counts to calculate NLR and PLR. The association between these ratios, clinicopathological characteristics, and risk groups was analyzed using Receiver Operating Characteristic (ROC) curves.ResultsROC curve analysis established optimal cutoff values for NLR and PLR at 0.98 and 104.6, respectively, for differentiating high-risk from low/intermediate-risk patients. The combined NLR-PLR model demonstrated superior predictive performance, yielding an Area Under the Curve (AUC) of 0.833. Both NLR and PLR showed significant positive correlations with neuroblastoma risk stratification. Notably, patients with elevated baseline NLR and PLR values were significantly more likely to present with advanced disease stages compared to their lower-risk counterparts. These data suggest that the integration of NLR and PLR into a dual-index score synergistically enhances the accuracy of risk discrimination.ConclusionsPretreatment NLR and PLR are potent, cost-effective, and easily accessible biomarkers that correlate significantly with high-risk neuroblastoma and poor prognostic indicators in unadjusted analyses. Incorporating these inflammatory indices into standard staging protocols may improve the precision of initial risk stratification, allowing for more personalized therapeutic interventions.

Acute Myeloid Leukemia (AML) in infants constitutes a rare and biologically distinct subgroup. Hematopoietic stem cell transplantation (HSCT) plays a pivotal role in the treatment of infant AML. However, the source of stem cells remains insufficiently explored. This study aimed to evaluate the clinical outcomes of allogeneic HSCT from different sources. We conducted a single-center retrospective analysis of 27 infants with AML who underwent HSCT. We compared peripheral blood (PB) with/without bone marrow (BM) (Group 1, n = 16) versus umbilical cord blood (UCB) (Group 2, n = 12). There was no significant difference in 3-year overall survival (OS), disease-free survival (DFS), 3-year recurrence rates, or one-year cumulative graft-versus-host disease (GVHD) incidence between two groups (3-year OS: 80.36% for group 1 vs. 91.67% for group 2, p = 0.5474; DFS: 73.66% vs. 69.84%, p = 0.8232; GVHD: 56.25% for group 1 vs. 50.0% for group 2, p = 0.824). The group with pre-transplant minimal residual disease (MRD) status had a lower recurrence rate. This study emphasizes the efficacy of HSCT in the treatment of infant AML, with higher OS rates compared to childhood AML. It also supports UCB as a viable stem cell source. Achieving MRD-negative status before transplantation is crucial for improving post-transplant outcomes.

This study aimed to investigate the prognosis of unrelated umbilical cord blood transplantation (UCBT) using low-dose anti-thymocyte globulin (ATG) in children diagnosed with severe aplastic anemia (SAA). This retrospective case series study was conducted involving pediatric SAA patients treated at the Capital Institute of Pediatrics from January 2020 to February 2023. All patients underwent a reduced-intensity conditioning (RIC) regimen alongside low-dose ATG. The study comprised nine patients (five males) with a median age of 5 years (range: 1.7 to 7 years). The median follow-up duration was 799 days (range: 367 to 1481 days), during which all patients survived. The median time interval from diagnosis to transplantation was 3 months (range: 1 to 9 months). The median dosage of ATG administered was 5 mg/kg (range: 2.5 to 7.5 mg/kg). The median durations for granulocyte and platelet engraftment were 15 days (range: 12 to 23 days) and 26 days (range: 12 to 41 days), respectively. Three patients experienced grade 2–4 acute graft-versus-host disease (aGVHD). Epstein-Barr virus (EBV) reactivation was observed in three patients, while cytomegalovirus (CMV) reactivation occurred in seven patients, with no cases of CMV disease or post-transplant lymphoproliferative disorder (PTLD). One patient experienced recurrence 15 months after transplantation due to influenza A infection. These findings indicate that SAA patients may attain a favorable prognosis following UCBT with a RIC regimen combined with low-dose ATG.

目的 分析儿童急性T淋巴细胞白血病(T-ALL)的临床特征、预后因素及生存情况.方法 回顾性分析2008年4月-2020年8月于首都儿科研究所附属儿童医院血液内科确诊的84例T-ALL临床和实验室资料.并将非早前T淋巴细胞(non-ETP)-ALL组与早前T淋巴细胞(ETP)-ALL组进行比较.结果 non-ETP组共70例(83.3％),ETP组共14例(16.7％).与non-ETP组相比,ETP组女性比例高、LDH明显增高者比例低、高危者比例高、诱导失败者比例高(P＜0.05).non-ETP 组完全缓解(CR)率为87.1％,ETP-ALL 组 CR 率为 57.1％.non-ETP 组复发19例,死亡15例;ETP组复发3例,死亡3例.non-ETP-ALL及ETP-ALL组的5年的总生存率(OS)分别为:(77.1±5.3)％vs.(74.5±13.1)％(P=0.979).两组患儿5年的无事件生存率(EFS)分别为:(64.2±6.0)％vs.(50±13.4)％(P=0.098).通过 Kaplan-Meier 分析进行单因素分析显示,诱导失败及复发为影响OS的因素(P＜0.05).采用Cox多因素分析显示,复发为影响预后的独立因素(P＜0.001).纳入所有因素进行logistic回归分析显示,高危险度将直接增加复发风险,具有统计学意义(P=0.047).结论 儿童T-ALL诱导失败及复发为预后影响因素,复发为预后的独立危险因素.non-ETP-ALL组与ETP-ALL组的5年OS及EFS均无明显统计学差异.

The objective of this study is to explore the clinical features and outcomes of pediatric patients with acute lymphoblastic leukemia (ALL) harboring JAK-STAT signaling pathway genetic abnormalities. This retrospective case series examined the clinical data of pediatric patients diagnosed with ALL harboring JAK-STAT pathway genetic abnormality at the Children’s Hospital of the Capital Institute of Pediatrics between January 2016 and January 2022. Bone marrow next-generation sequencing was used to reveal the JAK pathway abnormalities. Descriptive statistics were used. From 432 children with ALL during the study period, eight had JAK-STAT pathway genetic abnormalities. Regarding immunotyping, there were four patients with common-B cell types and one with pre-B cell type. The three patients with T-ALL had early T-cell precursor(ETP) type, pre-T cell type, and T cell type. Gene mutations were more common than fusion genes. There was no central nervous system involvement in eight patients. All patients were considered at least at intermediate risk before treatments. Four patients underwent hematopoietic stem cell transplantation (HSCT). One child had a comprehensive relapse and died. The child had a severe infection and could not tolerate high-intensity chemotherapy. Another child relapsed 2 years after HSCT and died. Disease-free survival was achieved in six children. JAK-STAT pathway genetic abnormalities in pediatric Ph-like ALL are rare. Special attention should be paid to treatment-related complications, such as infection and combination therapy (chemotherapy, small molecule targeted drugs, immunotherapy, etc.) to reduce treatment-related death and improve long-term quality of life.

Background:Soft-tissue sarcomas during infancy are rare and understudied. With no data on this specific condition, we performed a retrospective study of infant-onset sarcomas based on a multi-institutional cohort in Beijing, China, collected over the past decade. We reviewed infantile soft-tissue sarcomas' clinical characteristics, treatments, and outcomes. Materials and Methods:The patients with soft-tissue sarcoma diagnosed from 0 to 12 months in four primary children's hospitals in Beijing from January 2010 to December 2019 were evaluated. Results:Fifty-one patients were enrolled, including 31 males and 20 females. The median age at the diagnosis was five months (range, 0-12), and seven (13.7%) patients were diagnosed in the first month of their life. Histologically, twenty-five patients were diagnosed with rhabdomyosarcoma (RMS), six were diagnosed with extraosseous Ewing sarcoma (EES), and twenty were diagnosed with nonrhabdomyosarcoma soft-tissue sarcoma (NRSTS). The treatment principles and details of RMS focused on reference to the Intergroup Rhabdomyosarcoma Study Group (IRSG) protocols. For EES and NRSTS, chemotherapy was prescribed according to children's oncology group protocols. The five-year EFS/OS rates of RMS were 26.4% ± 19.5%/56.2 ± 17.8%, the five-year EFS/OS rate of EES was 50% ± 20.4%, and the five-year EFS/OS of NRSTS was 85.2% ± 9.8%/100%. Conclusions:Infant-onset soft-tissue sarcoma is heterogeneous. The primary location of the abdominal or pelvic cavity of RMS and EWS was at a later stage and had a poorer prognosis. Multimodal therapy resulted in successful disease control for the majority of patients. Standardization of treatment protocols will facilitate care for such challenging conditions.

OBJECTIVE:To investigate the efficacy and safety of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) in combination of ATG and post-transplant cyclophosphamide (PTCy) -induced immune tolerance after transplantation in treatment of childhood myelodysplastic syndromes(MDS）.METHODS:From July 2016 to November 2020, a total of 8 children with MDS receiving the haploidentical allo-HSCT combined with ATG and PTCy-induced immune tolerance after transplantation in our hospital were enrolled, whose clinical data were retrospected and analyzed.RESULTS:Median age at diagnosis of the 8 children (1 male and 7 females) was 6.4 (range, 10 months to 15 years) years old. The median medical history of MDS was 2.7 years (range, 3 months to 8 years). Among the 8 patients, 7 cases were diagnosed with refractory cytopenia of childhood and one with refractory anemia with excess of blasts. The HSC donors were father, mother or brother of patients and HLA matching in 6-9/12 loci were identical. All the donors were healthy and didn't carry the same pathogenic genes as the recipients. The median age of donors was 36.4 (range, 25 to 49) years old. The median mononuclear cell (MNC) number of the graft was 19.8, ranging in (13.2-47.3)×108/kg, and the median CD34+ cell number was 11.8×106/kg, ranging in (5.0-18.3)×106/kg. Graft-versus-host disease prophylactic regimen was started on day 3 and 4 after transplantation, in which cyclophosphamide (50 mg/kg·d) was administered by intravenous infusion. From day 5 after transplantation, low-dose tacrolimus was administered by intravenous infusion and mycophenolate mofetil was administered orally. The median time of neutrophil and platelet engraftment was 12.6 (rang, 11 to 15) days and 13.3 (rang, 11 to 18) days, respectively. All the patients achieved full donor chimerism on neutrophil engraftment after transplantation. The median follow-up time was 1 032 (rang, 747 to 1 536) days. Both overall survival rate and disease-free survival rate were 100%.CONCLUSION:Haplo-HSCT combined with ATG and PTCy-induced immune tolerance after transplantation is a safe and effective treatment for children with MDS.

To identify relationships between busulfan (Bu) exposure and outcomes of a cohort pediatric patients receiving hematopoietic stem cell transplantation (HSCT), along with a targeted busulfan-based conditioning regimen. We retrospectively evaluated targeted busulfan concentrations in 53 pediatric patients (age 0.4–16 years) who received busulfan 4 times daily according to recommended weight-based doses in a single-center analysis between 2018 and 2020. In this trial, individual busulfan pharmacokinetics were performed following dose 5 of the conditioning regimen. Twenty four of 53 patients (45.3%) studies did not require dose adjustments. Equal number of patients (24/53) required one dose adjustments while two-dose adjustment applied for 5 of 53 (9.4%). Twenty-one percent of the patients exhibited ll-lV aGVHD. The incidence of veno-occlusive disease (VOD) was in 3.8% of the 53 patients, while incidence of hemorrhagic cystitis (II–III) reached to 9.7%. Engraftment was successful in 98% of the 53 patients with relapse in 2% of cases. The probability of overall survival and disease-free survival at day 100 was 96% and 94%, respectively. In conclusion, therapeutic drug monitoring (TDM) and individualization of Bu dosage are essential to improve the efficacy and safety of busulfan-based regimen in Chinese pediatric HSCT recipients.

Objective. To explore the relationship between vitamins levels and disease-related indicators in children with acute leukemia (AL). Methods. A total of 107 hospitalized children with AL were enrolled in this study and assigned to one group in each of the following categories: infected group (n = 52) and noninfected group (n = 55); treatment remission group (n = 56) and nonremission group (n = 51); high-risk (HR) group (n = 44), intermediate risk (IR) group (n = 53), and slight risk (SR) group (n = 8); cyclophosphamide + cytosine arabinoside+6-mercaptopurine + pegaspargase group (CAML, n = 15); methotrexate group (MTX, n = 9); and vindesine + daunomycin + L-asparaginasum + prednisone (VALP, n = 38). Hematological and serological parameters, hepatic and renal function, and changes in vitamins A, B1, B2, B6, B9, B12, C, D, and E serum content in children with AL were analyzed to investigate their relationship with AL disease-related factors. Results. The vitamin D level was significantly higher in the noninfected group than in the infected group (P < 0.05). Compared with the nonremission group, the level of vitamin B1 in the treatment remission group was significantly higher, while the levels of vitamin B6 and B12 were notably lower (P < 0.05). The levels of vitamins B6 and B12 were notably different among the treatment groups. Multivariate analysis showed that hemoglobin (Hb) and C-reactive protein (CRP) were predisposing factors of AL in children. The disease type (acute lymphoblastic leukemia/acute myelogenous leukemia) was the factor affecting remission in AL children. Abnormal kidney function and the occurrence of icterus were the influencing factors for the risk degree in AL children. Platelet (PLT) count, activated partial thromboplastin time (APTT), neutrophils (N), and immunophenotype were shown to affect the choice of therapeutic regimens. Conclusion. There are notable vitamins imbalances in children with AL. The imbalances influence disease-related factors and therefore provide some references for the prognosis and treatment of AL.

Background: Neuronal ceroid lipofuscinoses (NCLs) are rare lysosomal storage disorders, characterized by progressive mental retardation and motor developmental regression, and myoclonic seizures. Hematopoietic stem cell transplantation (HSCT) has been suggested to be used in the treatment of lysosomal disorders and brain damage caused by a deficiency of soluble lysosomal enzymes. However, there are no reports on treating NCLs with HSCT in China. Results: From January 2018 to May 2019, we performed haplo-HSCT followed by PT/Cy on 8 NCL pediatric patients. The median age was 4.5 years (range from 2.8 to 7 years). And the donors were their haploidentical HLA-matched parents, as no identically matched donor was found. The median nucleated cell count was 25.37 (10–34.41) ×10 8 /kg and the median CD34+ count was 13.7(8.95–22)×10 6 /kg. Neutrophil reconstitution occurred at 12 days (11–14 days) after transplantation, and median platelet reconstitution time was 12 days (9–14 days) after transplantation. All patients achieved full donor chimerism and did not develop Grade II–IV acute GvHD or chronic GvHD after transplantation. The median follow-up period was 2.2 (1.5–2.6) years. All patients are still alive at present, and develop no severe transplantation-related complications. The mental and motor disorders, myoclonic seizures, and vision loss of all patients continue to progress, but the progression slows down at 12 months after the transplantation. Conclusion: Observations reported in this study suggest it is safe and efficacy to treat NCLs with haplo-HSCT. Transplantation should be performed as early as possible for the survival quality of pediatric patients.

Background Langerhans cell histiocytosis (LCH) is a rare neoplastic disease that occurs in both children and adults, and BRAF V600E is detected in up to 64% of the patients. Several studies have discussed the associations between BRAF V600E mutation and clinicopathological manifestations, but no clear conclusions have been drawn regarding the clinical significance of the mutation in pediatric patients. Results We retrieved the clinical information for 148 pediatric LCH patients and investigated the BRAF V600E mutation using next-generation sequencing alone or with droplet digital PCR. The overall positive rate of BRAF V600E was 60/148 (41%). The type of sample (peripheral blood and formalin-fixed paraffin-embedded tissue) used for testing was significantly associated with the BRAF V600E mutation status (p-value = 0.000 and 0.000). The risk of recurrence declined in patients who received targeted therapy (p-value = 0.006; hazard ratio 0.164, 95%CI: 0.046 to 0.583). However, no correlation was found between the BRAF V600E status and gender, age, stage, specific organ affected, TP53 mutation status, masses close to the lesion or recurrence. Conclusions This is the largest pediatric LCH study conducted with a Chinese population to date. BRAF V600E in LCH may occur less in East Asian populations than in other ethnic groups, regardless of age. Biopsy tissue is a more sensitive sample for BRAF mutation screening because not all of circulating DNA is tumoral. Approaches with low limit of detection or high sensitivity are recommended for mutation screening to avoid type I and II errors.

Objective:To explore the characteristics, diagnosis, and treatment of precursor B-cell acute lymphocytic leukemia with C- MYC rearrangement (preBLL) in children. Methods:The clinical data in 2 cases of childhood preBLL in Department of Hematology, Children′s Hospital Affiliated to Capital Institute of Pediatrics in June and August 2019 were summarized and analyzed.Results:Both cases were acute lymphoblastic leukemia with precursor B-cell immunophenotype.Hepatosplenomegaly and peripheral white blood cells were significantly increased, and the morphology of bone marrow was L3. C- MYC rearrangement was discovered by cytogenetic tests.Both children have received the treatment of the mature B-cell tumor protocol (FAB/LMB96), and early remission was developed in 1 case with TP53 gene mutation but relapsed thereafter and died finally.Another case had reached sustained complete remission after treatment. Conclusions:Children with preBLL is rare, and routine C- MYC rearrangement should be performed in children with Precursor B-cell lymphoblastic leukemia whose morphology of bone marrow was L3.Its treatment needs to be further studied, and multi-center clinical trials need to be actively conducted to analyze and summarize large numbers of cases to identify effective protocol and improve the prognosis.

目的 探讨DNA修复相关基因胚系突变所致遗传易感性小儿白血病的诊断思路以及这类疾病临床、遗传学特征.方法 收集并回顾性分析2017年5月-2020年1月确诊的5例DNA修复相关基因胚系突变的遗传易感性小儿白血病患儿的临床资料及遗传学、分子学资料.结果 伴遗传易感性的白血病患儿中涉及DNA修复缺陷者5例,男2例,女3例.5例中1例TP53突变,2例PMS2突变,1例9p21.3p21.1缺失,1例CHEK2突变.结论 白血病诊疗中应注意体貌异常及肿瘤家族史,不存在以上也不能除外肿瘤遗传易感性.需甄别结构性变异,重视基因突变及杂合性缺失两种形式,完全缓解后的拷贝数变异检测应更加积极.TP53c.421T ＞C p.C141R的胚系突变形式为致病性突变.PMS2的单等位基因突变也可导致典型的结构性错配修复综合征发生.DNA修复缺陷相关胚系突变本身不影响化疗反应,体细胞改变特征才是影响化疗疗效的关键因素.

目的 总结应用大剂量化疗联合自体造血干细胞移植(hematopoietic stem cell transplantation,HSCT)的高危神经母细胞瘤患儿的临床特点及预后.方法 选取2012年9月至2020年5月首都儿科研究所附属儿童医院血液肿瘤科收治的经病理诊断为神经母细胞瘤、临床危险度为高危且进行了大剂量化疗联合自体HSCT的13例患儿,总结分析其临床特征、移植过程及随访结果.结果 13例患儿中卡铂/依托泊苷/马法兰(carboplatin/etoposide/melphalan,CEM)方案预处理8例,白消安/马法兰(busulfan/melphalan,Bu/Mel)方案5例.13例患儿造血功能均获得满意重建,所有患儿预处理期间均未发生Ⅲ级以上器官毒性,发生Ⅰ～Ⅱ级黏膜毒性4例(30.8％),Ⅰ级消化道毒性3例(23.1％),移植期间肠道感染1例(7.7％),巨细胞病毒(cytomegalovirus,CMV)血症2例(15.4％),念珠菌血症1例(7.7％).移植后持续完全缓解8例,疾病稳定带瘤生存2例,体格及智力发育同正常同龄儿,心肝肾肺功能均正常;复发3例,均为移植前部分缓解患儿,分别于移植后半年、1年及2年复发,复发后均死于疾病进展.结论 高危神经母细胞瘤患儿以CEM或Bu/Mel为预处理方案进行自体HSCT安全有效,未见远期并发症发生,Bu/Mel方案较CEM方案的不良反应发生率低.移植前缓解状态影响预后.

目的 了解肾母细胞瘤(WT)在辅助化疗中发生肝窦阻塞综合征/肝小静脉闭塞病(SOS/VOD)的情况.方法 回顾性分析我科收治的1例Ⅱ期WT患儿,应用放线菌素D(Act-D)化疗后出现SOS/VOD的临床资料,并复习相关文献.结果 WT患儿术后化疗d5出现进行性血小板减少,化疗d9逐渐出现发热、肝大、腹水、黄疸,符合SOS/VOD的临床诊断,予暂停化疗、血浆置换、抗感染、对症支持等综合治疗,d22痊愈.结论 Act-D治疗WT患儿有一定几率引发SOS/VOD,早期出现孤立性血小板减少可作为SOS/VOD即将发生的警示.

Objective To report a case in WAS successfully engraftment after allogeneic haploidentical hematopoietic stem cell transplantation (allo-HSCT) and evaluate the clinical efficacy and safety of high doses of cyclophosphamide used in allo-HSCT for WAS.MethodThe patient is a 6years and 3-month-old boy at the time of transplantation. The reduced-intensity of Bu+Flu+ATG conditioning regimen in allo-HSCT for this patient was at 5 days before transplantion.Graft-versus-host disease(GVHD) prophylaxis: rabbit antithymocyte globulin 2.5mg/kg daily at 5 to 3 days before transplantation, short-course methotrexate, post transplantation high-dose cyclophosphamide on days +3 and +4 was followed by mycophenolate mofetil and cyclosporine. The donors were their HLA-haploidentical father.Result Neutrophil engraftment occurred on days 16 after transplantation,platelet engraftment occurred on day 23 after transplantation. Complete donor type engraftment was confirmed by Short Tandem Repeat-Polymerase Chain Reaction(STR-PCR) on day 23 after transplantation. No regimen-related toxicity occurred, GVHD and graft failure were not observed. 34 days after transplantation, the number of the platelet was increased to normal.Conclusion Allogeneic hematopoietic stem cell transplantation is an effective measure to treat patient with WAS.The reduced-intensity conditioning regimen was helpful to decrease the regimen-related toxicity. Post transplant cyclophosphamide approach successfully used and reduced the incidence of GVHD.

Objective To observe the efficacy and adverse reaction of the improvement program of cladribine combined with cytarabine (2-CdA+Ara-C) in treatment of children with refractory high-risk Langerhans cell histiocytosis (LCH).Methods 13 patients with refractory high-risk LCH or recurrent LCH were treated by combined 2-CdA+Ara-C chemotherapy.The treatment efficacy and the disease state in the process were evaluated according to the Histiocyte Society Evaluation and Treatment Guidelines (2009).The drug toxicity was evaluated according to the Common Terminology Criteria Adverse Events Version 4.0 (CTCAE v4.0,2009).Results Of 13 patients,10 cases achieved non active disease (NAD);2 patients with liver cirrhosis before the improvement program with CIP-LCH-2012 gave up the treatment after 1 course of therapy; 1 patient died of infectious shock after chemotherapy with severe pulmonary infection and intestinal infection.All 13 patients had grade 3 of blood and lymphatic system toxicity; 10 patients had grade 1 of hepatobiliary and gastrointestinal side effects; 3 patients with liver cirrhosis before the improvement program had grade 2 or grade 3 of hepatobiliary system and gastrointestinal system side effects,including 1 patient of death.Conclusion The improvement program of CIP-LCH-2012 had significant efficacy for children with refractory high-risk and relapsed LCH.The cladribine-associated toxicity was of significant myelosuppression,which may be tolerated in the most children patients.The program could be considered as a recommended salvage therapy for multi-system LCH (MS-LCH) after failure of first-line therapy,and as a first-line therapy for MS-LCH with risk organ injury.The program should be used with caution or dose-adjustment consideration for pre-treatment of severe organ damage exist,especially cirrhosis.