Department of Medicine, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, USA.
Int J Clin Oncol. 2010 Jun;15(3):314-8. doi: 10.1007/s10147-010-0042-0. Epub 2010 Mar 4.
Primitive neuroectodermal tumors (PNETs) are small, round-cell tumors of neural crest origin classically found in the central nervous system (CNS) but more recently characterized in the periphery. Peripherally located PNETs (pPNETs) are members of the Ewing's sarcoma family of tumors (EFTs). Renal localization of pPNETs is very rare, is found in young adults, and is characterized by an aggressive clinical course and poor prognosis. We present the case of a young man with renal pPNET characterized by psuedorosette formation, cluster of differentiation 99 (CD 99+), focally positive for neuron-specific enolase (NSE), with cytogenetic findings of the translocation t(11;22)(q24;q12) and the unique abnormality of trisomy 7. To our knowledge, we report the first case of trisomy 7 and PNET.
原始神经外胚层肿瘤（PNETs）是起源于神经嵴的小圆细胞肿瘤，经典地发现于中枢神经系统（CNS），但最近在周围组织中也有特征性表现。外周 PNET（pPNET）是尤因肉瘤家族肿瘤（EFT）的成员。pPNET 肾脏定位非常罕见，发生于年轻人，具有侵袭性临床病程和不良预后的特征。我们报告了一例肾脏 pPNET 的病例，其特征为假菊形团形成、分化簇 99（CD 99+）阳性、神经元特异性烯醇化酶（NSE）局灶性阳性，细胞遗传学表现为易位 t（11；22）（q24；q12）和独特的三体 7 异常。据我们所知，我们报告了首例三体 7 和 PNET。
