A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome
A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome
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DOI：
10.1155/2019/6091059
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发表时间：
2019-09-16
影响因子：
0.9
通讯作者：
Suwanpakdee, Piradee
中科院分区：
文献类型：
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作者：
Boonyawat, Boonchai;Charoenpitakchai, Mongkon;Suwanpakdee, Piradee
努南综合征(NS)是一种常染色体显性遗传病，在某些情况下由PTPN11突变引起。由于PTPN11的体细胞突变见于多种肿瘤类型，导致生殖系PTPN11突变的NS也增加了血液系统恶性肿瘤和脑实体瘤的风险。然而，Noonan综合征中脑肿瘤的报道仍然相当罕见。在这里，我们报告了第一例11岁的泰国Noonan综合征男孩，他的症状与继发于第四脑室室管膜下瘤的脑积水有关，在这名患者中发现了PTPN11突变。
Noonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic malignancies and brain solid tumors. However, the report of brain tumors in Noonan syndrome remains rather rare. Here, we report the first case of an 11-year-old Thai boy with Noonan syndrome who presented with symptoms related to hydrocephalus secondary to subependymoma in the fourth ventricle, and PTPN11 mutation was identified in this patient.