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| 1 | DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma显示文摘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. | Siyu Cai Xisi Wang Wen Zhao Libing Fu Xiaoli Ma Xiaoxia Peng | 2017 | Science China(Life Sciences)2017，60，7： | 5 |
| 2 | Acute myeloid leukemia following a primary mediastinal germ cell tumor显示文摘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. | Huimin Hong Yan Su Chenghao Chen Lejian He Shuai Zhu Wei Lin Mei Jin Xisi Wang Ruidong Zhang Huyong Zheng Qi Zeng Xiaoli Ma | 2020 | Pediatric Investigation2020，4，3： | 1 |
| 3 | Clinical characteristics of malignant germ cell tumors in adolescents:A multicenter 10-year retrospective study in Beijing显示文摘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. | 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 | 2023 | Cancer Innovation2023，2，6： | 0 |
| 4 | Hepatoblastoma with neonatal necrotizing enterocolitis:Two case reports显示文摘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。 | Sidou He Xisi Wang Chao Duan Wen Zhao Chiyi Jiang Shihan Zhang Binglin Jian Wei Yang Tong Yu Libing Fu Huanmin Wang Xiaoli Ma | 2023 | Cancer Innovation2023，2，6： | 0 |
| 5 | Iron deficiency in children at the time of initial neuroblastoma diagnosis显示文摘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. | Hongjun Fan Yan Su Chao Duan Qian Zhao Xisi Wang Shuai Zhu Wen Zhao Mei Jin Xiaoli Ma | 2020 | Pediatric Investigation2020，4，1： | 0 |
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