Tabbarah Abeer Z, Carlson Austin W, Oviedo Angelica, Ketterling Rhett P, Rodriguez Fausto J
Department of Pathology, George Washington University, Washington, D.C., USA.
Clin Neuropathol. 2012 May-Jun;31(3):142-5. doi: 10.5414/np300451.
Gliosarcoma, a recognized subtype of glioblastoma, is a biphasic tumor exhibiting distinct glial and sarcomatous components. Ependymosarcomas are rarer, biphasic ependymal tumors exhibiting sarcomatous change. Genetic abnormalities associated with this curious phenotype are not well understood. We are presenting the first karyotype of ependymosarcoma with identification of a clonal t(1;19)(q12;p13). Fluorescence in situ hybridization (FISH) was performed with a probe set targeting 1q23 and 19p13.3. Although the tumor did not show evidence of t(1;19)(q23;p13.3) by FISH, increased ploidy was a feature of the sarcomatous component. On clinical followup the patient is doing well without evidence of recurrence 55 months after initial resection, and postoperative treatment with irradiation and temozolomide. The significance of the genetic alterations we describe associated with sarcomatoid change in ependymal neoplasms, and ultimately their prognostic relevance, merits further study.
胶质肉瘤是胶质母细胞瘤的一种公认亚型，是一种具有明显胶质和肉瘤成分的双相肿瘤。室管膜肉瘤较为罕见，是表现出肉瘤样改变的双相室管膜肿瘤。与这种奇特表型相关的基因异常尚未完全明确。我们展示了首例室管膜肉瘤的核型，并鉴定出克隆性t(1;19)(q12;p13)。使用靶向1q23和19p13.3的探针组进行荧光原位杂交（FISH）。尽管通过FISH未发现肿瘤存在t(1;19)(q23;p13.3)的证据，但多倍体增加是肉瘤成分的一个特征。临床随访显示，患者在初次切除术后55个月情况良好，无复发迹象，术后接受了放疗和替莫唑胺治疗。我们所描述的与室管膜肿瘤肉瘤样改变相关的基因改变的意义及其最终的预后相关性，值得进一步研究。
