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A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis

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收录情况： ◇ SCIE

作者：

机构： [1]Capital Med Univ, Beijing Childrens Hosp, Hematol Oncol Ctr,Natl Key Discipline Pediat,MOE, Beijing Key Lab Pediat Hematol Oncol,Minist Educ, Beijing 100045, Peoples R China; [2]Capital Med Univ, Beijing Childrens Hosp, Ctr Clin Epidemiol & Evidence Based Med, Key Lab Major Dis Children,Minist Educ, Beijing, Peoples R China; [3]Capital Med Univ, Beijing Childrens Hosp, Dept Pathol, Beijing, Peoples R China; [4]Capital Med Univ, Beijing Childrens Hosp, Dept Pediat Thorac Surg, Key Lab Major Dis Children,Minist Educ, Beijing, Peoples R China; [5]NanLiShi Rd, Beijing 100045, Peoples R China

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关键词： acute transient hepatitis DICER1 monozygotic twins pleuropulmonary blastoma

摘要：

Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children that is associated with a germline mutation in DICER1. In this report, we share an interesting case of a pair of monozygotic twins: one of them developed PPB when she was 4-year old, while the other developed acute transient hepatitis when she was 5-year old. Next-Gen sequencing for DICER1 mutations of their family revealed that both twins and their mother had c.C3675A mutation. The mother also had a history of multinodular goiter. Identification of DICER1 mutation carriers and close surveillance of individuals at risk for DICER1 syndrome may allow early detection and hence better outcome.

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中科院(CAS)分区：

出版当年[2016]版：

大类 | 3 区医学

小类 | 2 区儿科 4 区血液学 4 区肿瘤学

最新[2025]版：

大类 | 3 区医学

小类 | 3 区血液学 3 区儿科 4 区肿瘤学

JCR分区：

出版当年[2015]版：

Q1 PEDIATRICS Q3 HEMATOLOGY Q3 ONCOLOGY

最新[2023]版：

Q1 PEDIATRICS Q2 HEMATOLOGY Q3 ONCOLOGY

影响因子： 2.4 最新[2023版] 2.9 最新五年平均 2.634 出版当年[2015版] 2.406 出版当年五年平均 2.386 出版前一年[2014版] 2.513 出版后一年[2016版]

第一作者：

第一作者机构： [1]Capital Med Univ, Beijing Childrens Hosp, Hematol Oncol Ctr,Natl Key Discipline Pediat,MOE, Beijing Key Lab Pediat Hematol Oncol,Minist Educ, Beijing 100045, Peoples R China;

通讯作者：

通讯机构： [1]Capital Med Univ, Beijing Childrens Hosp, Hematol Oncol Ctr,Natl Key Discipline Pediat,MOE, Beijing Key Lab Pediat Hematol Oncol,Minist Educ, Beijing 100045, Peoples R China; [5]NanLiShi Rd, Beijing 100045, Peoples R China

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