肝间叶性错构瘤和 DICER1 综合征。
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.
机构信息
From the Departments of Human Genetics (M.A.-R., M.K.W., W.D.F.), Pharmacology (D.P.), Oncology (M.R.F., W.D.F.), and Biochemistry (M.R.F.), and the Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital (M.A.-R., D.P., N.S., M.K.W., M.R.F., W.D.F.), McGill University, the Department of Pathology, Montreal Children's Hospital (V.-H.N.), the Department of Radiology (K.M.), and the Cancer Research Program, Research Institute (W.D.F.), McGill University Health Centre, and the Department of Pathology, Centre Hospitalier Universitaire Sainte-Justine (D.B.-D.S.) - all in Montreal; the Department of Pediatrics, Endocrinology Unit, Sapienza University, Rome (M.S.), and Centro Diagnostico Italiano, Milan (S.Z.) - both in Italy; the Department of Pediatrics and Adolescent Medicine, Faculty of Medicine (M.K.), and the Institute for Diagnostic and Interventional Radiology, Faculty of Medicine (J.M.), Georg-August University, Göttingen, the Department of Pediatric Surgery, St. Bernward Krankenhaus Hildesheim, Hildesheim (S.G.), and the Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm (R.W., C.L., R.S.) - all in Germany; and Minneapolis (J.R.P.).
出版信息
N Engl J Med. 2019 May 9;380(19):1834-1842. doi: 10.1056/NEJMoa1812169.
Mesenchymal hamartoma of the liver (MHL) is a benign tumor affecting children that is characterized by a primitive myxoid stroma with cystically dilated bile ducts. Alterations involving chromosome 19q13 are a recurrent underlying cause of MHL; these alterations activate the chromosome 19 microRNA cluster (C19MC). Other cases remain unexplained. We describe two children with MHLs that harbored germline pathogenic variants. Analysis of tumor tissue from one of the children revealed two "hits." Mutations in dysregulate microRNAs, mimicking the effect of the activation of C19MC. Our data suggest that MHL is a new phenotype of DICER1 syndrome. (Funded by the Canadian Institutes of Health Research and others.).
肝脏间叶性错构瘤（MHL）是一种影响儿童的良性肿瘤，其特征是原始黏液样基质伴囊性扩张的胆管。涉及 19 号染色体 q13 的改变是 MHL 的常见潜在病因；这些改变会激活 19 号染色体微小 RNA 簇（C19MC）。其他病例则无法解释。我们描述了两例携带种系致病性变异的 MHL 患儿。对其中一名患儿的肿瘤组织进行分析后发现了两个“打击点”。DICER1 基因突变会使 microRNA 失调，模拟 C19MC 激活的效果。我们的数据表明，MHL 是 DICER1 综合征的一种新表型。（由加拿大卫生研究院等资助）。
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