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DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma

Science China(Life Sciences) 2017年第7期60卷 714-720页

作者： Siyu Cai xisi wang Wen Zhao Libing Fu Xiaoli Ma Xiaoxia Peng Center for Clinical Epidemiology & Evidence-based Medicine Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing 100045 Chin Hematology Oncology Center Beijing Children's Hospital Capital Medical University Beijing 100045 China Department of Pathology Beijing Children's Hospital Capital Medical University Beijing 100045 China Beijing Key Laboratory of Pediatric Hematology Oncology Beijing 100045 China Key Laboratory of Major Diseases in Children Ministry of Education Beijng 100045 China

Our aim is to examine the impact of DICER1 mutations on the pathogenesis of pleuropulmonary blastoma(PPB) by evaluating the mutation frequency and investigating the family history of Chinese patients with PPB. The family histories of 12 children with PPB recruited consecutively were surveyed. Blood samples from patients and their first-degree relatives were tested for DICER1 mutations. Whole-genome sequencing of blood samples and formalin-fixed and paraffin-embedded(FFPE) tumor tissue was performed in one family with twins. Twelve patients with PPB included six type II and six type III cases. Seven of the12 patients harbored DICER1 mutations, six of which were frameshift or nonsense mutations. Another case carried a germline DICER1 mutation affecting the splice site. FFPE sample had a nonsense mutation in TDG and missense mutations in DICER1.In addition, two cases with DICER1 mutations were found to have lung cysts preceding the diagnosis of PPB. Furthermore, one patient had a family history remarkable for thyroid diseases. Our results indicate that the germline mutation frequency in Chinese patients with PPB is similar to the ones reported for patients from USA, UK, and Japan. Moreover, our study strongly suggests that investigating the family history and detecting germline DICER1 mutations might be of benefit to increasing awareness and improving the accuracy of the differential diagnosis of PPB from non-malignant lung cysts.

关键词：基因突变母细胞肺突变频率全基因组测序膜生殖细胞鉴别诊断

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Hepatoblastoma with neonatal necrotizing enterocolitis:Two case reports

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Cancer Innovation 2023年第6期2卷 532-536页

作者： Sidou He xisi wang Chao Duan Wen Zhao Chiyi Jiang Shihan Zhang Binglin Jian Wei Yang Tong Yu Libing Fu Huanmin wang Xiaoli Ma Medical Oncology Department Pediatric Oncology CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina Beijing Key Laboratory of Pediatric Hematology Oncology National Key Clinical Discipline of Pediatric OncologyKey Laboratory of Major Diseases in ChildrenMinistry of EducationBeijingChina Surgical Oncology Department Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina Imaging Center Department Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina Pathology Department Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina

We report two children with hepatoblastoma(HB)with a history of neonatal necrotizing enterocolitis(NEC).Case 1 was diagnosed with HB at 5 months of age.Liver enlargement was found during the NEC operation at 3 months of age and then was clinically diagnosed by imaging.After six chemotherapy courses,a partial hepatectomy was performed.Three months after ceasing the chemotherapy,a chest computed tomography scan suggested that distant metastasis of the tumor should be considered,and the lesion was removed.However,9 months after the operation,alpha-fetoprotein concentrations were increased,and abdominal imaging showed a recurrence of the tumor in situ,resulting in a hepatectomy.Case 2 was diagnosed with NEC shortly after birth and underwent an intestinal resection and anastomosis 1 month later.He was diagnosed with HB at 3 years of age.Hepatectomy was performed after five courses of chemotherapy.Chemotherapy was stopped after 10 courses,and alpha-fetoprotein concentrations were normal.At present,both children have survived and are in a healthy condition.Physicians should be aware of the possibility of HB and a history of NEC in children.Premature birth and low birth weight are common factors leading to the pathogenesis of HB and NEC.The association between these two diseases requires further study。

关键词： hepatoblastoma LGR5 low birth weight neonatal necrotizing enterocolitis premature delivery

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Clinical characteristics of malignant germ cell tumors in adolescents:A multicenter 10-year retrospective study in Beijing

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Cancer Innovation 2023年第6期2卷 524-531页

作者： Qian Zhao Miao Li Qing Sun Tian Zhi Mei Jin Wen Zhao xisi wang Chao Duan Xiaoli Ma Wanshui Wu Weihong Zhao Dongsheng Huang Yan Su Medical Oncology Department Pediatric Oncology CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing Key Laboratory of Pediatric Hematology OncologyKey Laboratory of Major Diseases in ChildrenMinistry of EducationBeijingChina Beijing Shijitan Hospital Capital Medical UniversityBeijingChina Peking University First HospitalBeijingChina Beijing Tongren Hospital Capital Medical UniversityBeijingChina

Background:The aim of this study was to review clinical features of adolescent malignant germ cell tumors(MGCTs)in Beijing and analyze the peculiar characteristics of this age group.Methods:Clinical characteristics,pathological presentations,and survival outcomes of 34 patients were analyzed retrospectively.Results:Of 34 patients,12 girls and 22 boys,18(52.9%)had an extra-cranial tumor,including one testicular tumor,five ovarian tumors,one sacrococcygeal tumor,and 11 mediastinal tumors.Histologically,we found immature teratomas(n=6),yolk sac tumors(n=5),mixed malignant tumors(n=5),an embryonic carcinoma(n=1),and seminoma(n=1).Three-year event-free survival(EFS)and overall survival(OS)were 48.8%and 62.9%,respectively.Another 16(47.1%)patients had an intracranial tumor,including nine in the pineal region,five in the suprasellar region,one in basal ganglia,and one in cerebellopontine.All patients had localized disease and an excellent outcome with 3-year EFS and OS of 93.7%and 100%,respectively.Conclusions:Adolescent MGCTs are rare with a strong dependence on gender,and the mediastina and pineal region are the most common tumor locations.The prognosis is promising compared with that of other adolescent tumors and MGCTs in other age groups.MGCTs in mediastina have a tendency to companion with other hematological malignancies,and the prognosis is extremely poor in these patients.

关键词： adolescent malignant germ cell tumors prognosis treatment

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Alveolar rhabdomyosarcoma with bone marrow metastasis causes disseminated intravascular coagulation

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Pediatric Investigation 2018年第4期2卷 263-266页

作者： Yan Su xisi wang Jing Yang Wen Zhao Chao Duan Mei Jin Xiaoli Ma Beijing Key Laboratory of Pediatric Hematology Oncology National Discipline of Pediatrics Ministry of Education MOE Key Laboratory of Major Diseases in Children Hematology Oncology CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina

INTRODUCTIONDisseminated intravascular coagulation (DIC) is an abnormal activation of the coagulation cascade that occurs in response to different diseases. Tumors such as malignant hematological diseases and solid tu... 详细信息

关键词： Alveolar rhabdomyosarcoma Disseminated intravascular coagulation diseases

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Prenatal and perinatal risk factors for solid childhood malignancies: A questionnaire-based study

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Pediatric Investigation 2018年第2期2卷 107-113页

作者： Sihui Li Siyu Cai Cheng Huang Xi Chai Xindi wang xisi wang Wen Zhao Xiaolu Nie Xiaoxia Peng Xiaoli Ma Beijing Key Laboratory of Pediatric Hematology Oncology National Discipline of Pediatrics Ministry of Education MOE Key Laboratory of Major Diseases in ChildrenHematology Oncology CenterBeijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China National Center for Clinical Epidemiology and Evidence-based Medicine Beijing Children's Hospital Capital Medical UniversityNational Center for Children's Health Beijing China

Importance:Childhood solid tumors account for the highest proportion of childhood cancers and are one of the leading causes of death in childhood.However,their pathogenesis is unclear.Objective:To explore prenatal and perinatal risk factors for solid malignancies in children.Methods:We enrolled 71 consecutive pediatric patients (44 boys and 27 girls;median age,30 months) with solid tumors who were diagnosed and treated at our center from January 2013 to December 2016 as the case group.We also enrolled 211 age-and residence-matched healthy children (ratio of approximately 3:1 with the case group) as the control group.We conducted a questionnaire-based survey with the parents of these 282 children.Univariate and multivariate conditional logistic regression analyses of the collected data were performed.Results:Confirmed solid malignancies included neuroblastoma (n =32),rhabdomyosarcoma (n =18),retinoblastoma (n =7),renal tumors (n =3),and other tumors (n =11).Risk factors for solid childhood tumors in the univariate analysis were the parents' age,gravidity,parity,abortion history,vaginal bleeding,family history of malignancy,and prenatal use of folic acid or hematinics/iron supplements (P ＜ 0.05),and those in the multivariate analysis were higher parity (odds ratio [OR],2.482;95％ confidence interval [CI],1.521-4.048),family history of malignancy (OR,3.667;95％ CI,1.679-8.009),and prenatal use of hematinics/iron supplements (OR,2.882;95％ CI,1.440-5.767).In contrast,use of prenatal folic acid was protective (OR,0.334;95％ CI,0.160-0.694).Interpretation:A family history of malignancy,use of prenatal hematinics/iron supplements,and higher parity are risk factors for solid childhood tumors,whereas use of prenatal folic acid is a protective factor.

关键词： Case-control study Children Maternal Perinatal Risk factors Solid malignancies

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Iron deficiency in children at the time of initial neuroblastoma diagnosis

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Pediatric Investigation 2020年第1期4卷 17-22页

作者： Hongjun Fan Yan Su Chao Duan Qian Zhao xisi wang Shuai Zhu Wen Zhao Mei Jin Xiaoli Ma Beijing Key Laboratory of Pediatric Hematology Oncology National Discipline of PediatricsMinistry of EducationMOE Key Laboratory of Major Diseases in ChildrenHematology Oncology CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina

Importance:There is a high incidence of iron deficiency in children worldwide.Notably,however,while iron deficiency is the most common cause of anemia,little is known about the prevalence and different types of iron deficiency in neuroblastoma patients.Objective:The aim of the present study was to investigate the prevalence of iron deficiency in patients newly diagnosed with neuroblastoma.Methods:A total of 195 newly diagnosed neuroblastoma patients from November 2015 to January 2018 were analyzed retrospectively.The survival analysis was estimated by the Kaplan-Meier method.Results:Of the 195 neuroblastoma patients included in the study,121(62.1%)had iron deficiency,55(28.2%)had absolute iron deficiency,and 66(33.9%)had functional iron deficiency.Being aged≥18 months,tumor originating in the abdomen,International Neuroblastoma Risk Group Staging System M,high-risk neuroblastoma,lactate dehydrogenase≥1500 U/L,neuron-specific enolase≥100 U/L,unfavorable histologic category,MYCN amplification,chromosome 1p loss,and bone marrow metastasis were associated with significantly higher rates of functional iron deficiency(P<0.05).Interpretation:Functional iron deficiency at the time of initial neuroblastoma diagnosis predicted lower event-free survival.Long-term effects of iron supplementation in neuroblastoma patients with different types of iron deficiency need to be further studied.

关键词： Iron deficiency Neuroblastoma Event-free survival

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Analysis of the short-term curative effect of 356 cases of intraocular retinoblastoma in children

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Pediatric Investigation 2018年第4期2卷 236-241页

作者： Mei Jin Junyang Zhao Dawei Zhang Chengyue Zhang Wen Zhao xisi wang Qian Zhao Chao Duan Yan Su Huimin Hong Xiaoli Ma Beijing Key Laboratory of Pediatric Hematology Oncology National Key Discipline of Pediatrics(Capital Medical University)Key Laboratory of Major Diseases in ChildrenMinistry of EducationDepartment of Hematology Oncology CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina Department of Ophthalmology Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina

Importance: Retinoblastoma (Rb) is the most common primary malignant intraocular cancer in children. Systemic chemotherapy combined with local therapy is safe and effective for intraocular Rb. Objective: To summarize the short-term outcomes of patients with Rb to provide evidence for optimizing treatment protocols and improving therapeutic safety and efficacy. Methods: The clinical data of 356 patients (486 eyes) with intraocular Rb admitted to our center from December 2009 to April 2017 were retrospectively analyzed. The measures included drug toxicity, eye-preservation rate, and survival rate, with an emphasis on safety and short-term efficacy. The date of last follow-up was 30 November, 2017. results: The patients comprised 226 unilateral Rb and 130 bilateral Rb. Enucleation before chemotherapy was performed in 72 patients. Among the 174 patients with unilateral Rb, enucleation after chemotherapy was performed in 80 patients (46.0%), and the eye was not enucleated in 89 (51.1%);68 eyes were preserved (68/114, 59.6%) in Group D and 20 eyes (20/59, 33.8%) in Group E. Among the 220 eyes in patients with bilateral Rb, enucleation after chemotherapy was performed for 35 eyes;the eye-preservation rate was 91.7% in Group C, 79.1% in Group D, and 52.1%in Group E. All patients developed grade II to IV myelosuppression after chemotherapy, among whom 18 patients (5%) requiring transfusion. Fourteen patients (3.9%) died of intracranial metastasis following self-elected discontinuation of treatment (n = 7). Patients were followed up for a median of 47 (range, 1–96) months. The expected 5-year overall survival rate was 95.3% (96.7% for unilateral Rb and 92.9% for bilateral Rb, P = 0.074). Interpretation: The VEC (vincristine, etoposide, and carboplatin) regimen with local treatment was safe for intraocular Rb. Intracranial metastasis remains the most common cause of Rb-related death.

关键词： Chemotherapy Enucleation Intraocular retinoblastoma Local therapy

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池式钠冷快堆熔融物堆内滞留初步分析研究

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原子能科学技术 2024年第3期58卷 689-697页

作者：薛方元张东辉刘一哲张熙司中国原子能科学研究院北京102413 中核霞浦核电有限公司福建宁德355199

为防止堆芯熔毁后熔融物熔穿反应堆容器,造成大量放射性释放,三、四代反应堆设计中普遍考虑了熔融物滞留方案。池式钠冷快堆在主容器底部安装堆芯熔化收集器,对熔融物进行有效收集和长时冷却。利用中国原子能科学研究院自主开发的FRTAC... 详细信息

为防止堆芯熔毁后熔融物熔穿反应堆容器,造成大量放射性释放,三、四代反应堆设计中普遍考虑了熔融物滞留方案。池式钠冷快堆在主容器底部安装堆芯熔化收集器,对熔融物进行有效收集和长时冷却。利用中国原子能科学研究院自主开发的FRTAC程序,计算堆芯熔毁后主容器内的自然循环,分析熔融物长时冷却过程,研究钠冷快堆的熔融物堆内滞留方案。结果表明:熔融物掉落至堆芯熔化收集器上后,主容器内的自然循环可以有效冷却熔融物,并由事故余热排出系统将余热导出至大气环境中。

关键词：钠冷快堆熔融物堆内滞留自然循环

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Acute myeloid leukemia following a primary mediastinal germ cell tumor

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Pediatric Investigation 2020年第3期4卷 218-221页

作者： Huimin Hong Yan Su Chenghao Chen Lejian He Shuai Zhu Wei Lin Mei Jin xisi wang Ruidong Zhang Huyong Zheng Qi Zeng Xiaoli Ma Beijing Key Laboratory of Pediatric Hematology Oncology/National Discipline of Pediatrics Ministry of Education/MOE Key Laboratory of Major Diseases in Children/Hematology Oncology CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijingChina Department of Pathology Beijing Children's HospitalCapital Medical UniversityNational Centre for Children's HealthBeijingChina Department of Thoracic Surgery Beijing Children's HospitalCapital Medical UniversityNational Centre for Children's HealthBeijingChina

Introduction:There is a known association between primary mediastinal germ cell tumor(PMGCT)and hematologic malignancy that is not linked to treatment.They are exceptionally rare entities with a low morbidity and a poor prognosis.Case presentation:An 11-year-old boy presented with an anterior mediastinal mass diagnosed as a malignant germ cell tumor on the basis of an excisional biopsy.He was found to have acute myeloid leukemia(AML)two years after the chemotherapy for his germ cell tumor.The clinical course was very aggressive with a survival time of only 1 week after diagnosis of AML associated with PMGCT.Conclusion:AML associated with PMGCT needs to be diagnosed correctly.Relevant examinations should be carried out in patients with PMGCTs during and after chemotherapy,and long-term follow-up is still necessary to reduce the risk of morbidity and mortality.

关键词： Primary mediastinal germ cell tumor Acute myeloid leukemia Chemotherapy

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Treatment of malignant rhabdoid tumors of the head and neck with combined chemotherapy and 125I particle implantation

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Pediatric Investigation 2018年第1期2卷 53-55页

作者： Chao Duan Lei Zheng Dawei Zhang Mei Jin Yan Su Wen Zhao xisi wang Qian Zhao Cheng Huang Jie Zhang Jianguo Zhang Xin Ni Xiaoli Ma Beijing Key Laboratory of Pediatric Hematology Oncology National Discipline of Pediatrics Ministry of Education MOE Key Laboratory of Major Diseases in Children Hematology Oncology Center Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China Department of Oral and Maxillofacial Surgery Peking University School and Hospital of Stomatology Beijing China Department of Head and Neck Surgery Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China

INTRODUCTIONThe malignant rhabdoid tumor (MRT) was originally described as a highly malignant variant of Wilms' tumor in 1978 and was designated as a distinct entity in 1981.1 This highly aggressive tumor is characterized by its rhabdoid feature and biallelic loss of SMARCB1/INI1/hSNF5.2 The prognosis is very poor with only 31％ of patients surviving to 1 year,3 and there are no standardized treatment strategies available.

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