A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.
复制标题
音刺猬激活的髓母细胞瘤中新型种系 GNAS 突变的病例报告。
DOI：
10.1002/pbc.28103
复制
发表时间：
2020
影响因子：
3.2
通讯作者：
Davidson,TomB
中科院分区：
文献类型：
--
作者：
Crane,JacquelynN;Chang,VivianY;Yong,WilliamH;Salamon,Noriko;HaneLeeforUCLAClinicalGenomicsCenter;Kianmahd,Jessica;Dorrani,Naghmeh;Martinez-Agosto,JulianA;Davidson,TomB
髓母细胞瘤是儿童最常见的恶性脑肿瘤。通过对遗传性癌症易感综合征的研究，我们对髓母细胞瘤的认识得到了提高，大约6%的病例与遗传性癌症易感综合征有关。1我们描述了一例髓母细胞瘤中一种新的种系GNAS突变，符合CARE指南。2患者是一名18个月大的男性儿童，与年龄相比身材矮小，多指（趾）畸形，无其他畸形特征，因6周的大运动里程碑和斜颈病史到外院就诊。图1A显示了三代系谱。如图1B和C所示，脑磁共振成像（MRI）显示小脑蚓部有一个54× 56× 49 mm的肿块和阻塞性脑积水。进行了手术切除和脑室腹膜分流术。病理学与成神经管细胞瘤、促结缔组织增生/结节亚型、音刺猬（SHH）激活和TP 53野生型一致，TP 53状态通过免疫组织化学确认。术后第6天的脑部MRI与次全切除一致。术后第29天的脊柱MRI没有转移的证据。未进行分期脑脊液（CSF）评价。
Medulloblastoma is the most common malignant brain tumor of childhood. Our knowledge of medulloblastoma has been advanced by the study of genetic cancer predisposition syndromes, which are associated with approximately 6% of cases. 1 We describe a case of a novel germline GNAS mutation in medulloblastoma, in accordance with the CARE guidelines. 2The patient is an 18-month-old male child with small size for age and polydactyly without other dysmorphic features who presented to an outside hospital with a 6-week history of loss of gross motor milestones and torticollis. A three-generation pedigree is shown in Figure 1A. Brain magnetic resonance imaging (MRI) as shown in Figure 1B and C revealed a 54× 56× 49 mm mass in the cerebellar vermis and obstructive hydrocephalus. Surgical resection and placement of a ventriculoperitoneal shunt was performed. Pathology was consistent with medulloblastoma, desmoplastic/nodular subtype, sonic hedgehog (SHH)-activated and TP53-wildtype, with TP53 status confirmed via immunohistochemistry. Brain MRI on postoperative day 6 was consistent with a subtotal resection. Spine MRI on postoperative day 29 was without evidence of metastases. No staging cerebrospinal fluid (CSF) evaluation was performed.