Izycka-Swieszewska E, Stefanowicz J, Debiec-Rychter M, Rzepko R, Borowska-Lehman J
Department of Pathology, Medical University of Gdansk, Poland.
Neuropathology. 2001 Sep;21(3):218-21. doi: 10.1046/j.1440-1789.2001.00387.x.
A case of an epidural spinal peripheral primitive neuroectodermal tumor (pPNET) in a 13-year-old girl is presented. The tumor was disseminated at the moment of diagnosis, thus only diagnostic oligobiopsy of the epidural mass was performed. Histologically the tumor was composed of small round blue cells. The neoplastic cells expressed MIC2 and features of neural differentiation on immunohistochemical staining (neuron-specific enolase, synaptophysin and NCAM positivity). Fluorescent in situ hybridization (FISH) analysis was performed for the final diagnosis and the translocation t(11;22)(q24;q12) was detected. The present case emphasizes the usefulness of FISH in differential diagnosis of tumors, especially when only routinely fixed material is available.
本文报告了一例13岁女孩的硬膜外脊髓外周原始神经外胚层肿瘤（pPNET）。该肿瘤在诊断时已发生播散，因此仅对硬膜外肿块进行了诊断性少组织活检。组织学上，肿瘤由小圆形蓝色细胞组成。免疫组织化学染色显示肿瘤细胞表达MIC2并具有神经分化特征（神经元特异性烯醇化酶、突触素和神经细胞黏附分子阳性）。为明确最终诊断进行了荧光原位杂交（FISH）分析，检测到t(11;22)(q24;q12)易位。本病例强调了FISH在肿瘤鉴别诊断中的有用性，尤其是在仅可获得常规固定材料的情况下。
