Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation.
Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation.
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DOI：
10.1097/pas.0b013e3182380802
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发表时间：
2012-01
期刊：
影响因子：
--
通讯作者：
Folpe AL
中科院分区：
文献类型：
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作者：
Carter JM;O'Hara C;Dundas G;Gilchrist D;Collins MS;Eaton K;Judkins AR;Biegel JA;Folpe AL
发生于神经鞘瘤的上皮样恶性周围神经鞘瘤是非常罕见的。我们报告一个不寻常的例子发生在一个病人与多个神经鞘瘤（神经鞘瘤病），其中所有，但其中一个显示“神经母细胞瘤样”的组织学。通过免疫组化，上皮样恶性周围神经鞘瘤和神经鞘瘤均显示Smarcb 1蛋白完全缺失。随后的遗传评估显示，患者及其三个孩子的SMARCB 1/INI 1基因中存在一种新的种系突变，其中两个孩子被诊断患有非典型畸胎瘤/横纹肌样脑肿瘤。
Epithelioid malignant peripheral nerve sheath tumors arising in pre-existing schwannomas are extremely rare. We report an unusual example occurring in a patient with multiple schwannomas (schwannomatosis), all but one of which showed “neuroblastoma-like” histology. By immunohistochemistry, both the epithelioid malignant peripheral nerve sheath tumor and the schwannomas showed a complete loss of the Smarcb1 protein. Subsequent genetic evaluation revealed the presence of a novel germline mutation in the SMARCB1/INI1 gene in the patient and three of her children, two of whom were diagnosed with atypical teratoid/rhabdoid tumors of the brain.