دورية أكاديمية
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome
| العنوان: | Mesenchymal Hamartoma of the Liver and DICER1 Syndrome |
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| المؤلفون: | Apellaniz-Ruiz, Maria, Segni, Maria, Kettwig, Matthias, Glüer, Sylvia, Pelletier, Dylan, Nguyen, Van-Hung, Wagener, Rabea, LOPEZ, Maria Cristina, Muchantef, Karl, Bouron-Dal Soglio, Dorothée, Sabbaghian, Nelly, Wu, Mona K, Zannella, Stefano, Fabian, Marc R, Siebert, Reiner, Menke, Jan, Priest, John R, Foulkes, William D |
| المساهمون: | Apellaniz-Ruiz, Maria, Segni, Maria, Kettwig, Matthia, Glüer, Sylvia, Pelletier, Dylan, Nguyen, Van-Hung, Wagener, Rabea, Lopez, Maria Cristina, Muchantef, Karl, Bouron-Dal Soglio, Dorothée, Sabbaghian, Nelly, Wu, Mona K, Zannella, Stefano, Fabian, Marc R, Siebert, Reiner, Menke, Jan, Priest, John R, Foulkes, William D |
| بيانات النشر: | Massachusetts Medical Society Waltham, USA |
| سنة النشر: | 2019 |
| المجموعة: | Sapienza Università di Roma: CINECA IRIS |
| مصطلحات موضوعية: | child, preschool, dead-box rna helicase, female, genetic predisposition to disease, hamartoma, human, liver, liver disease, male, mesoderm, microrna, neoplastic syndrome, hereditary, pedigree, phenotype, ribonuclease iii, chromosome, pair 19, germ-line mutation |
| الوصف: | 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 DICER1 pathogenic variants. Analysis of tumor tissue from one of the children revealed two DICER1 "hits." Mutations in DICER1 dysregulate microRNAs, mimicking the effect of the activation of C19MC. Our data suggest that MHL is a new phenotype of DICER1 syndrome. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/31067372; info:eu-repo/semantics/altIdentifier/wos/WOS:000467769800009; volume:380; issue:19; firstpage:1834; lastpage:1842; numberofpages:9; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11573/1271402Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065558766 |
| DOI: | 10.1056/NEJMoa1812169 |
| الإتاحة: | https://doi.org/10.1056/NEJMoa1812169Test http://hdl.handle.net/11573/1271402Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.6CDF10AE |
| قاعدة البيانات: | BASE |
| DOI: | 10.1056/NEJMoa1812169 |
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