Objective To investigate the correlation between induction therapy response and prognosis in children with high-risk neuroblastoma,and to analyze factors associated with the induction therapy response.Methods Data of 55 children with high-risk neuroblastoma diagnosed and treated at Shanghai Children's Hospital from January 2019 to December 2023 were retrospectively reviewed.Induction response was assessed according to the International Neuroblastoma Response Criteria and patients were categorized into a good-response group(complete response or very good partial response)and a poor-response group(partial response,progressive disease,mixed response,or no response).Clinical and biological characteristics,treatments,and prognostic factors were analyzed.Results Among the 55 children,29 were male and 26 were female;the median age at onset was 39 months.Follow-up was performed until December 31,2024.The 3-year overall survival(OS)and event-free survival(EFS)rates were(83.8±5.3)%and(47.0±10.3)%,respectively.Neuron-specific enolase level at initial diagnosis,induction therapy response,radiotherapy,and recurrence were prognostic factors for EFS and OS(P<0.05).The 3-year OS was(83.5±7.4)%in the good-response group and(66.7±13.6)%in the poor-response group(P=0.012),while the 3-year EFS was(62.8±10.4)%and(27.8±14.8)%,respectively(P<0.001).Intracranial metastasis at initial diagnosis was associated with a poor induction response(P=0.033).A platelet count≥400×109/L was associated with a better induction response(P=0.002).Conclusions Induction therapy response is a significant prognostic factor in high-risk neuroblastoma.Absence of intracranial metastasis and a platelet count≥400×109/L at initial diagnosis are associated with a favorable induction therapy response.

Background: Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma, with survival dependent on risk stratification and multimodal therapy. This single-center study explored the clinical characteristics, treatment outcomes and prognostic factors of pediatric RMS to optimize local management. Methods: Data of RMS patients treated at Shanghai Children's Hospital from 2011 to 2024 were analyzed to estimate event-free survival (EFS) and overall survival (OS), and factors associated with survival. Patients received the Rs-99 (pre-2019) regimen or a modified Rs-2018 (post-2019) regimen. Results: A total of 76 RMS patients were identified. The 5-year EFS and OS for the entire cohort were 71.1% (95% CI, 62.3% to 83.3%) and 72.4% (95% CI, 64.0% to 84.5%), respectively. No statistically significant differences were observed in EFS and OS between the Rs-2018 and Rs-99 regimens. Univariate survival analysis indicated that metastasis was associated with prognosis: the 5-year EFS and OS of patients with metastatic disease were 35.0% (95% CI, 18.3% to 57.6%) and 40.0% (95% CI, 27.3% to 75.3%), while both the 5-year EFS and OS of patients with localized disease reached 83.9% (95% CI, 69.3% to 93.6%). Primary tumor resection status was a key prognostic factor for patients with localized disease, with a 5-year EFS of 100% for R0 resection and 46.7% (95% CI, 25.2% to 74.0%) for R2 resection. For patients with localized disease, EFS was comparable between those who underwent delayed primary excision (DPE) and upfront resection. Conclusions: Outcomes for patients with metastatic RMS remain poor. For those with localized disease, primary tumor resection status correlates with improved EFS and OS; additionally, DPE represents a feasible therapeutic option for localized RMS involving complex anatomical sites.

Neuroblastoma (NB) is one of the most common extracranial solid tumors in children. Patients with high-risk metastatic disease remain at substantial risk of relapse and have poor long-term outcomes. No standard salvage regimen has been established for relapsed/refractory (R/R) NB, and the role of immune checkpoint inhibitors in pediatric NB remains investigational. Here, we report two pediatric patients with R/R high-risk NB who received a tislelizumab-containing multi-agent regimen consisting of tislelizumab, an anti-GD2 monoclonal antibody, GM-CSF support, and sequential mICE/VIT chemotherapy. The anti-GD2 antibody, dinutuximab beta or naxitamab, was selected according to each patient’s insurance coverage. Both patients tolerated treatment well, and no severe immune-related adverse events were observed during the reported follow-up period. After four cycles of combination therapy, Patient 1 showed marked regression of soft-tissue lesions and clearance of bone marrow involvement. Patient 2 achieved a complete response and remained disease-free during the 5-month follow-up period after treatment completion. However, the durability of this response remains uncertain because of the limited follow-up duration. These preliminary short-term observations suggest that this multi-agent regimen may be a feasible salvage approach for selected pediatric patients with R/R high-risk NB. However, the durability of these antitumor responses cannot be confirmed given the limited surveillance period. Notably, this retrospective two-case observation cannot distinguish the independent antitumor contribution of tislelizumab alone, as multiple therapeutic components were administered simultaneously without control groups to isolate single-agent efficacy. Larger prospective studies are warranted to further evaluate the efficacy and safety of this approach.

Hepatoblastoma (HB) has a subtle onset and poor prognosis in high-risk group patients. Due to the adverse reactions and drug resistance associated with traditional systemic chemotherapy, there is an urgent need for new treatment strategies. Photothermal therapy (PTT) has been proposed as an advanced, patient-centered approach for cancer treatment. However, the safety concerns regarding traditional photothermal agents and the existence of intracellular self-protective autophagy mechanisms have hindered the clinical application and efficacy of PTT. This paper reports the development of a two-dimensional (2D) MXene-based composite nanoplatform for efficient synergistic autophagy inhibition and PTT for HB. Here, by directly coating a mesoporous silica layer on the surface of 2D Nb2C MXene nanosheets, the hydrophilicity/dispersion was enhanced. An autophagy inhibitor nanogenerator was designed, wherein the mesopores provide a reservoir for the autophagy inhibitor chloroquine (CQ), and the MXene core acts as a photothermal trigger under a near-infrared II (NIR-II) biowindow. In vitro experimental results showed that CQ/Nb2C@MSNs-PEG, after entering the tumor, induced rapid release of the encapsulated CQ to inhibit pro-survival autophagy in cells under 1064 nm NIR-II laser irradiation, enhancing the photothermal cytotoxicity of Nb2C@MSNs-PEG on tumor cells. Importantly, the CQ/Nb2C@MSNs-PEG therapeutic platform demonstrated effective antitumor activity in the HuH-6 tumor-bearing mouse model, validating the synergistic strategy of PTT and protective autophagy blockade for enhanced efficacy. This study provides a promising strategy for hepatoblastoma treatment by combining autophagy inhibition to enhance the photothermal therapeutic effect.

ObjectiveTo summarize the clinical characteristics and analyze prognostic factors of neuroblastoma (NB) in infants (≤12 months) at a single center. MethodsA retrospective analysis was conducted on the clinical data of infant patients (≤12 months) diagnosed with NB and treated between January 2014 and December 2022. Clinical features were analyzed, and comparisons between two sample rates were performed using the χ2 test. Univariate prognostic analysis was conducted using the log-rank test, and survival outcomes were analyzed using the Kaplan-Meier method. ResultsA total of 42 infants (≤12 months) with NB were enrolled. Low-risk patients underwent surgical resection alone; intermediate-risk patients received surgery combined with chemotherapy with or without maintenance therapy; high-risk patients were treated with surgery and chemotherapy with or without maintenance therapy or radiotherapy. The 5-year event-free survival (EFS) rate was (92.7±4.9)%, and the 5-year overall survival rate was (95.2±3.6)%. Only two patients died because of tumor recurrence or progression. Univariate analysis identified MYCN amplification and the initial lactate dehydrogenase (LDH) level ≥ five times the upper limit of the normal were significantly associated with poor prognosis (5-year EFS: 33.3% vs. 97.4% and 60.0% vs. 97.3%, P<0.0001 and P=0.0035). ConclusionInfant NB has a favorable overall prognosis. MYCN amplification and markedly elevated initial LDH are associated with poor outcomes.

Primary mediastinal malignant germ cell tumors (PMMGCTs) in children are highly aggressive and associated with a poor prognosis. We herein report the case of a male pediatric patient who presented with a large mediastinal mass and extensive metastases to the lungs, brain, kidneys, and multiple bones, illustrating the aggressive nature of this disease. The patient received a multi-drug combination chemotherapy regimen before and after tumor resection and successfully achieved complete remission. Notably, he has survived for 12 months and remains in complete remission to date. This case underscores the potential efficacy of multi-agent combination chemotherapy as a component of a multimodal treatment strategy for advanced PMMGCTs.

BackgroundRhabdomyosarcoma (RMS) of the trunk and extremities is associated with unfavorable outcomes due to high rates of metastasis and relapse. However, large-scale studies focusing specifically on this anatomical subsite remain limited. This study aimed to investigate the clinical characteristics and risk factors associated with relapse/progression in pediatric patients with trunk and extremity RMS.PurposeTo investigate the clinical features and risk factors associated with relapse/progression in pediatric patients with rhabdomyosarcoma (RMS) of the trunk and extremities.MethodsA retrospective analysis was conducted on clinical data from 15 children with trunk and extremity RMS treated at Shanghai Children’s Hospital between January 2011 and December 2024. All patients received multimodal therapy, including surgery, chemotherapy, and radiotherapy. Associations between clinical characteristics and relapse/progression rates were analyzed using descriptive statistics and Fisher’s exact test.ResultsThe median follow-up duration was 48 months. The 5-year event-free survival (EFS) was 60% (95% CI: 34.5%-85.5%), and the 5-year overall survival (OS) was 66.7% (95% CI: 42.1%-91.3%). The overall relapse/progression rate was 40% (95% CI: 16.8%-68.7%). Significantly higher relapse/progression rates were observed in patients with metastasis at diagnosis (85.7% vs 0%, P<0.001), high-risk stratification (75.0% vs 0%, P=0.010), and macroscopic residual disease after surgery (100% vs 10.0%, P<0.001). Regional lymph node involvement showed a trend toward a higher relapse/progression rate (66.7%) compared to no involvement (22.2%), although the difference was not statistically significant (P=0.123).ConclusionPediatric trunk and extremity RMS is associated with a high risk of relapse/progression. Metastasis at diagnosis and macroscopic residual tumor after resection are major adverse prognostic factors. Regional lymph node involvement may confer an increased risk, warranting validation in larger cohorts.

IntroductionPediatric aplastic anemia (AA), a rare and potentially fatal disease, demonstrates significant heterogeneity in pathogenesis, disease severity, therapeutic regimens, and clinical outcomes.MethodsIn this study, clinical features and outcomes of 70 children with AA, including severe AA (SAA, n = 30), very severe AA (vSAA, n = 21) and nonsevere AA (nSAA, n = 19), were retrospectively analyzed, with a median follow-up of 60.7 months (range, 0.4-136.5 months).ResultsPatients with nSAA were mainly treated with cyclosporine A, whereas SAA/vSAA patients primarily received allogeneic hematopoietic stem cell transplantation (HSCT) followed by standard immunosuppressive therapy (IST). Ultimate therapy regimens differed significantly between patients with SAA/vSAA and nSAA (p = 0.001). SAA/vSAA group exhibited a higher overall response rate at the 2-year follow-up (85.5% vs. 55.6%, p = 0.019). The 2-year overall survival (OS) and event-free survival (EFS) for the entire cohort were 97.1% and 48.5%, respectively. In patients with SAA/vSAA, HSCT was associated with higher and faster cumulative complete response (CR) rate (p < 0.0001) and superior EFS (p = 0.0297) compared with IST. Two IST-resistant patients were observed to achieved CR with eltrombopag (EPAG) salvage therapy.Discussionpediatric AA carries excellent OS but suboptimal EFS. HSCT tends to yield more favorable EFS compared with IST in SAA/vSAA patients, and EPAG may act as an effective salvage option for appropriately selected IST-resistant individuals. Further multicenter prospective research is warranted prior to implementing these findings in routine clinical practice.

OBJECTIVE:The aim was to describe the clinical features of extracranial germ cell tumors (GCTs) in pediatrics and study the clinical risk factors related to survival for malignant germ cell tumors (MGCTs) in order to optimize therapeutic options.METHODS:The clinical data of children with extracranial GCTs in three children's medical centers in Shanghai were retrospectively analyzed.RESULTS:In total, 1007 cases of extracranial GCTs diagnosed between 2010 and 2019 were included in this study, including teratomas (TERs) 706 (70.11%) and MGCTs 301 (29.89%). There were twice as many TER cases as MGCT cases. Approximately 50% of children with GCTs were <3 years old (43.39% for TERs, 67.13% for MGCTs). GCTs in children of different ages show differences in tumor anatomical locations and pathological subtypes. The 5-year event-free survival (EFS) and overall survival (OS) of all patients with MGCTs were 82.33% (95% CI, 77.32%, 86.62%) and 94.13% (95% CI, 90.02%, 96.69%), respectively. The multivariate Cox regression analysis identified a primary site in the mediastinum and alpha fetoprotein (AFP) levels ≥10,000 ng/mL as independent adverse prognostic factors (p < 0.0.0001, χ2 = 23.6638, p = 0.0225, χ2 = 5.2072.). There were no significant differences in OS among children receiving various chemotherapy regimens, such as the BEP, PEB, JEB and other regimens (VBP/VIP and AVCP/IEV) (p < 0.05).CONCLUSIONS:The clinical features of GCTs in Chinese pediatrics are similar to those reported in children in Europe and America. The age distribution of pathological types and primary sites in GCTs reflect the developmental origin of type I and type II GCTs transformed from mismigration primordial germ cells (PGCs). Optimizing the current platinum-based chemotherapy regimens and exploring the treatment strategies for MGCTs of the mediastinum are future research directions.

A series of immune abnormalities presenting in aplastic anemia (AA) support the immune pathogenesis of AA. However, how abnormal immunity specifically damages hematopoietic stem cells (HSCs) remains ambiguous. The discovery of bone marrow immune privilege (IP) sites which are composed of CD4 CD25 FoxP3 regulatory T cells (Tregs) exclusively to protect HSCs prompted us boldly assumed that it is a loss of IP protection leading to HSCs exhausted in AA. A experiment study to clinically confirm the correlation between HSCs depletion and IP abnormalities in patients with AA was conducted. The distribution of Tregs in bone marrow from children with AA, myelodysplastic syndrome (MDS) and control group was detected by immunohistochemistry. Th1, Th2, Th17 and HSCs as well as cytokines in bone marrow of these children were examined by flow cytometry. Tregs near endostea surface of bone marrow of children with AA was significantly lower than that in control and MDS. Th1 was more predominant in AA than in the control children. TNF-α, IFN-γ and IL-17 levels were also increased in AA. Compared to the control group, HSCs in bone marrow of AA, including Long-term HSCs (LT-HSCs) and Short-term HSCs (ST-HSCs), were at lower level. The results indicate that HSCs depletion is closely related to bone marrow IP abnormalities in AA, and the role of IP abnormalities in the pathogenesis of aplastic anemia deserves further research.

目的:比较以顺铂和卡铂为主的化疗方案治疗儿童颅外恶性生殖细胞肿瘤(MGCT)的临床效果,探讨其疗效及不良反应.方法:回顾性分析2014 年1 月至2020 年12 月我院血液肿瘤科收治的儿童颅外MGCT患者的临床资料.比较两组患者一般资料、2 年总生存率(OS)、2 年无事件生存率(EFS)、复发率、肺部感染、肝脏毒性、肾脏毒性、心脏毒性发生率、化疗疗程、化疗后骨髓抑制次数及住院时间等情况.结果:本组共67 例患者,以顺铂为主的化疗方案(顺铂组)治疗45 例,以卡铂为主的化疗方案(卡铂组)治疗22 例.中位随访时间:顺铂组60(31～85)月,卡铂组19.5(8～41)月.两组方案治疗后,顺铂组和卡铂组的2 年OS为100%和95.5%(P =0.278),2 年EFS为95.6%和90.4%(P =0.527),复发率为6.7%和9.1%(P =0.534),肺部感染发生率为57.8%和27.3%(P =0.019).IV级化疗后骨髓抑制、肝脏毒性、肾脏毒性、心脏毒性发生率和治疗疗程比较差异无统计学意义.化疗后骨髓抑制伴感染入院治疗为 23.3%和12.7%(P =0.013),但感染住院时间比较差异无统计学意义.不同危险度分组复发率及IV级化疗后骨髓抑制发生率比较差异无统计学意义.结论:以卡铂为主的化疗方案在维持儿童颅外MGCT疗效的同时,可以减少肺部感染发生概率及因化疗后骨髓抑制后发生感染的住院率.

目的:探讨儿童肾脏原发非Wilms瘤恶性肿瘤的临床特点及预后.方法:回顾性分析我院血液肿瘤科2015年1月至2020年12月收治的22例儿童肾脏原发非Wilms瘤恶性肿瘤的临床资料.结果:本组共22例儿童肾脏原发非Wilms瘤恶性肿瘤,男性12例,女性10例,中位发病年龄42.5月(4月～173月),肾透明细胞肉瘤10例,肾恶性横纹肌样瘤5例,肾细胞癌4例,神经母细胞瘤2例,尤文肉瘤1例,临床表现以肉眼血尿和体格检查发现腹部包块最常见,临床分期:Ⅰ期2例,Ⅱ期3例,Ⅲ期11例,Ⅳ期6例,21例患者行根治性肿瘤切除术,随访时间23月(4～80月),2年和5年OS分别为81.3％和69.7％,临床分期Ⅳ期OS和EFS较临床分期Ⅰ+Ⅱ+Ⅲ期患者低,差异有统计学意义(P＜0.05).结论:儿童肾脏原发非Wilms瘤恶性肿瘤临床罕见,不同类型肿瘤的诊断主要依据免疫组化及分子诊断,临床分期Ⅳ期与预后不良相关,早期发现、早期多学科联合诊治有助于改善预后.

Abstract Neuroblastoma (NBL) is clinically and biologically heterogeneous, and novel therapies are desperately needed as the poor prognosis of high-risk NBL cases. Increasingly, studies about metabolic reprogramming and tumor microenvironment (TME) open the way to change cancer risk stratification and treatment. Through machine learning, this study identified two metabolic clusters in NBL, which have distinct clinical features, Hallmark pathways and TME. By Weighted gene co-expression network analysis (WGCNA) and Cytoscape, we discovered that RNA and glycosphingolipid (GSL) metabolism play a crucial role in metabolic subtyping. Subsequently, we constructed and verified a risk signature based on key module genes, which performs a good prediction of NBL prognosis. Two risk groups, divided by the median value, are closely associated with clinical features, and risk scores show an inverse correlation with immune infiltration. In combination with gene set enrichment analysis (GSEA) results, we conclude that ribosome biogenesis regulated by rRNA metabolism might be a target for MYCN-amplification NBLs, and GSL metabolism might contribute to TME formation in NBL. Finally, we tried to predict different risk groups' immunotherapy and chemotherapy sensitivity and screened potential targets that might be useful against NBL. In summary, we used multiple bioinformatics analyses to explore the interaction between metabolic processes and TME in NBL and provide new ideas for developing new therapies.

BACKGROUND Hereditary spherocytosis (HS) is characterized by anemia, jaundice, splenomegaly, and cholelithiasis, and is caused by abnormal genes encoding red blood cell membrane components. The most common mutations found in HS are in the ANK1 gene. CASE SUMMARY A 4-mo-old girl was admitted to our hospital with pallor that had lasted for more than 2 mo. She presented with jaundice, anemia and splenomegaly. A heterozygous mutation of ANK1 (exon23: c.G2467T:p.E823X) was identified, and the mutation was determined to be autosomal dominant. This mutation is linked to the relatively serious anemia she had after birth; this anemia improved with age. CONCLUSION The utilization of next-generation sequencing may assist with the accurate diagnosis of HS, especially in atypical cases.

Objective:To investigate the efficacy and safety of targeted therapy with Crizotinib for children with ALK gene mutation positive inflammatory myofibroblastic tumor (IMT). Methods:A retrospective analysis was performed on 4 children with ALK gene mutation positive IMT admitted to Shanghai Children′s Hospital from January 2019 to June 2021.Among them, 3 cases were given the targeted drug Crizotinib[280 mg/(m 2· time), q12h] orally, and 1 case was observed after complete tumor resection to analyze the efficacy and adverse drug reactions. Results:All 4 cases were male, aged from 2 years and 3 months to 11 years and 3 months.The tumors originated from the abdominal cavity in 2 cases, the right orbit in 1 case, and the right lung in 1 case.Pathological immunohistochemistry and fluorescence in situ hybridization were both positive for ALK gene mutation, and complete remission was achieved after comprehensive treatment.Among them, 3 patients were treated with oral Crizotinib, and 2 patients were tried to stop taking the drug for 1 year, relapsed 1 month later, and still achieved complete remission after the second treatment.The 4 cases were followed up for 8-30 months, and all survived.All the cases showed no abnormalities in blood image, liver and kidney function, myocardial enzyme profile, cardiac function, hearing and vision, and 2 cases showed prolonged Q-T interval in the course of Crizotinib treatment, which could be recovered by temporary withdrawal of drug, and no abnormality in electrocardiogram was found in continued drug use. Conclusions:Crizotinib was used to treat ALK mutation positive IMT, shrink tumor and consolidate postoperative treatment, which is a good choice for IMT in children with difficult surgical resection and refractory recurrence.

目的 探讨表现为儿童神经副肿瘤综合征(PNS)的患儿的诊断方法.方法 收集4例临床表现为PNS的肿瘤患儿临床资料,总结其诊断方法.结果 4例PNS患儿中主要临床表现为行走不稳、抽搐、言语不清等神经系统症状,其中PNS症状出现在肿瘤发生前3例、肿瘤复发前1例.血清抗神经细胞抗体阳性3例,抗神经细胞抗体阳性2例.经影像学检查、骨髓细胞学、骨髓流式细胞术、骨髓活检及肿瘤组织病理学检查明确诊断为神经母细胞瘤2例、未成熟畸胎瘤2例,明确肿瘤诊断后患儿PNS分型为眼阵挛-肌阵挛综合征(OMS)1例、自身免疫性脑炎3例.结论 PNS症状可出现在肿瘤发生及复发前,可表现为自身免疫性脑炎、OMS等,主要临床症状为行走不稳、言语不清等神经系统症状.影像学、骨髓检查及肿块活组织检查等可明确临床表现为PNS患儿肿瘤诊断.

目的 总结儿童盆腔及泌尿生殖道横纹肌肉瘤(RMS)的有效诊断及治疗方法.方法 对12例儿童盆腔及泌尿生殖道RMS患儿的临床资料作回顾性分析.结果 12例RMS患儿中,原发于盆腔者5例、膀胱者3例、阴道者2例、肛门者1例、附睾者1例,临床表现为局部包块者7例、排尿困难者2例、腹痛者2例、便血者1例.患儿均进行了原发部位的增强MRI或增强CT等影像学检查评估原发瘤灶及常见转移部位.12例RMS患儿均行手术活检或手术切除肿瘤病理检查确诊,病理类型均为胚胎型.12例RMS患儿中,3例发生远处转移,1例为骨转移、2例为腹膜种植,发生区域淋巴结转移2例.6例患儿直接手术切除病灶,术后规律化疗及放疗,均完全缓解;4例患儿先行化疗再行手术切除病灶,术后规律化疗及放疗,3例部分缓解、1例复发死亡;2例仅行活检术,后规律化疗及放疗,均部分缓解.结论 盆腔及泌尿生殖道是儿童RMS常见的发病部位,主要表现为局部包块,增强MRI或增强CT等影像学检查可用于评估原发瘤灶及转移部位,活检或术后病理检查确诊,病理类型多为胚胎型;RMS患儿的治疗需手术、化疗、放疗等多学科联合诊治.

目的 总结肝移植治疗儿童肝母细胞瘤(hepatoblastoma,HB)的临床疗效及预后.方法 回顾性分析2014年1月至2020年12月上海市儿童医院明确诊断为HB并接受肝移植治疗的8例患者的临床资料.结果 本组共8例行肝移植治疗的HB患者,占同期HB患者比例12.1％,男性3例,女性5例.中位发病年龄为54(30～130)个月,中位移植年龄为67.5(36～175)个月.PRETEXT分期Ⅲ期3例,Ⅳ期5例.肝静脉受累1例,门静脉受累4例.肺部转移2例.POST-TEXT分期Ⅲ期6例,Ⅳ期2例.诊断时AFP中位值为55450(23950～>121000)ng/ml.移植前AFP中位值为242(6.78～58025)ng/ml.AFP下降比例中位值为99.7％(52.0％～99.9％).移植后AFP中位值为6.02(3.58～15015)ng/ml.所有患者均行术前化疗,术前化疗中位疗程6次.原发肝移植6例.挽救性肝移植2例.术后化疗6例.术后化疗中位疗程3次.中位随访时间为10.5(1～42)个月,CR为6例,PR为1例,死亡1例.平均生存时间为(36.9±4.8)个月.总生存率为87.5％.结论 儿童肝母细胞瘤的治疗是多种方式结合的综合治疗模式,全肝切除联合肝移植可取得满意的疗效,难治、复发患者仍是目前治疗的难点.

目的 探讨基于血清甲胎蛋白(AFP)升高和肝脏影像学的临床诊断行经验性新辅助化学治疗在儿童肝母细胞瘤临床诊疗中的可行性.方法 回顾分析近5年收治的80例原发肝占位患儿的临床资料,其中肝母细胞瘤50例和非肝母细胞瘤30例.分析血清AFP对临床诊断儿童原发肝占位为肝母细胞瘤的灵敏度和特异度;根据化疗前是否有病理证据将50例肝母细胞瘤患儿分为经验性化疗组和有病理化疗组,比较两组最终病理结果、总生存率(OS)和无事件生存率(EFS).结果 血清AFP异常升高诊断儿童原发肝占位为肝母细胞瘤的灵敏度为98％,特异度100％;与病理诊断的一致性高(Kappa=0.97,P<0.001).肝母细胞瘤经验性化疗组和有病理化疗组3年OS分别为88.3％和90.7％,EFS分别为74.8％和81.3％;经Log-rank检验,OS和EFS的差异均无统计学意义(P>0.05).经COX回归分析发现,在校正年龄、性别因素后,化疗前有无病理证据对PRETEX分期Ⅲ、Ⅳ期肝母细胞瘤3年OS和EFS影响无统计学意义(HR=4.68,95％CI:0.55～39.91;HR=2.34,95％CI:0.53～10.28).结论 根据血清AFP明显升高,可鉴别儿童肝母细胞瘤与其他儿童原发肝占位性疾病.基于血清AFP升高临床诊断肝母细胞瘤可指导手术耐受差的患儿术前新辅助化疗,降低手术风险.

Background To explore the feasibility of preoperative empirical chemotherapy in the clinical practice of child hepatoblastoma from the accuracy of clinical diagnosis based on elevated AFP and the effect of preoperative empirical chemotherapy on treatment results.Procedures Firstly, a retrospective analysis was made on clinical data of 80 children with primary hepatic space-occupying lesions admitted to a single center in the past 5 years, including 50 cases of hepatoblastoma and 30 cases of