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病例学习(Number 26)

水若寒 离线

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 欢迎大家讨论,由于文章内容太大,无法上传,有感兴趣的同道留下邮箱给我,将原文发送一起讨论
1.神经鞘瘤--富于细胞性神经鞘瘤-恶性外周神经鞘瘤是一个怎样的过度?
2.富于细胞性神经鞘瘤诊断标准的把握:核分裂像,细胞的丰富程度,坏死,包膜的有无等,如何掌握?如果达不到,我们又如何面对?
3.核分裂像,细胞的丰富程度,坏死,包膜的有无,S-100的表达方式(局灶还是弥漫)在三种诊断标准上的把握?
4.上皮样恶性外周神经鞘瘤能否起源于神经鞘瘤?
5.神经母细胞性神经鞘瘤附属低度恶性范畴还是良性范畴?介于富于细胞性神经鞘瘤和恶性外周神经鞘瘤中间的过度,我们在发报告时如何应对?
6.Smarcb1蛋白的缺失在其鉴别诊断中的作用?

Epithelioid Malignant Peripheral Nerve Sheath Tumor Arising in a Schwannoma, in a Patient With “Neuroblastoma-like” Schwannomatosis and a Novel Germline SMARCB1 Mutation  (Am J Surg Pathol 2012;36:154–160)Abstract: Epithelioid malignant peripheral nerve sheath tumors
arising in preexisting schwannomas are extremely rare. We
report an unusual example occurring in a patient with multiple
schwannomas (schwannomatosis), all but 1 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 in 3 of her children, 2 of whom were diagnosed with
atypical teratoid/rhabdoid tumors of the brain.

  • 病例学习(Number 26)图1
    图1
  • 病例学习(Number 26)图2
    图2
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