Noonan 综合征中高级别胶质瘤的发生：两例报告。
Occurrence of high-grade glioma in Noonan syndrome: Report of two cases.
机构信息
Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Hospital of Geneva, Geneva, Switzerland.
Department of Pediatrics, CANSEARCH Research Laboratory, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
出版信息
Pediatr Blood Cancer. 2019 May;66(5):e27625. doi: 10.1002/pbc.27625. Epub 2019 Jan 28.
Noonan syndrome (NS) is an autosomal dominant disorder commonly caused by PTPN11 germline mutations. Patients are characterized by short stature, congenital heart defects, facial dysmorphism, and increased risk of malignancies including brain tumors. Commonly associated brain tumors are dysembryoplastic neuroepithelial tumor and low-grade glioma. We report two cases of anaplastic astrocytoma with PTPN11-related NS. We conducted a systematic search of medical databases looking for other reported cases of high-grade glioma associated with NS and identified 24 cases of brain tumors, all of which were low-grade glial or glioneuronal tumors except for one case of medulloblastoma.
努南综合征（Noonan syndrome，NS）是一种常染色体显性遗传病，通常由 PTPN11 种系突变引起。患者表现为身材矮小、先天性心脏病、面部畸形以及恶性肿瘤风险增加，包括脑肿瘤。常见的相关脑肿瘤是胚胎发育不良性神经上皮肿瘤和低级别胶质瘤。我们报告了两例伴有 PTPN11 相关 NS 的间变性星形细胞瘤。我们对医学数据库进行了系统检索，以寻找其他报道的与 NS 相关的高级别胶质瘤病例，共确定了 24 例脑肿瘤，除了 1 例髓母细胞瘤外，均为低级别胶质或神经胶质神经元肿瘤。
Zotero 插件