Embryonal tumor with abundant neuropil and true rosettes (ETANTR): Report of a case with prominent neurocytic differentiation
Embryonal tumor with abundant neuropil and true rosettes (ETANTR): Report of a case with prominent neurocytic differentiation
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DOI：
10.1007/s11060-007-9346-y
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发表时间：
2007-08-01
影响因子：
3.9
通讯作者：
Perry, Arie
中科院分区：
文献类型：
--
作者：
Dunham, Christopher;Sugo, Ella;Perry, Arie
我们报告一个2岁的男孩谁最初提出的大头畸形和严重的全球发展迟缓的情况。影像学检查显示左侧颞顶叶有一个巨大的分叶状、钙化、局灶性强化和部分囊性肿块。大约一年后，肿瘤复发需要第二次手术，切除的组织被证明是具有丰富的神经胶质细胞和真神经胶质细胞的胚胎性肿瘤（ETANTR）的诊断。先前仅记录了12例这种罕见的儿科胚胎肿瘤，并且截至2000年，WHO尚未将ETANTR识别为独特的实体（Kleihues P，Cavenee WK（2000）International agency for research on cancer：pathology and genetics of tumors of the nervous system. IARC Press，里昂）。与之前的病例相反，我们的病人的肿瘤表现出广泛的神经细胞成分。通过荧光原位杂交（FISH）检查了两个最近描述的病例，其中一个显示出等染色体17 q（i17 q），第二个显示出染色体2、8、17和22的多体性（Fuller C，Fouladi M，Gajjar A，道尔顿J，Sanford RA，Helton KJ（2000）Am J Clin Pathol 126：277-283）。通过FISH分析，我们发现正常剂量的染色体2，8和17。我们的病例扩大了ETANTR的组织病理学谱，说明了神经元向神经细胞的显著分化。在这种情况下，缺乏共同的PNET相关的FISH异常增加了有限的细胞遗传学遗传数据，这种罕见的儿科胚胎性肿瘤。
We report a case of a 2 year-old boy who initially presented with macrocephaly and severe global developmental delay. Imaging revealed a large left temporo-parietal mass that was lobulated, calcified, focally enhancing and partially cystic. A second surgery was required for tumor recurrence approximately one year later, and tissue from that resection proved to be diagnostic for an embryonal tumor with abundant neuropil and true rosettes (ETANTR). Only 12 cases of this rare pediatric embryonal tumor have been previously documented, and as of 2000, the WHO has not recognized ETANTR as a distinct entity (Kleihues P, Cavenee WK (2000) International agency for research on cancer: pathology and genetics of tumors of the nervous system. IARC Press, Lyon). As opposed to prior cases, our patient's tumor exhibited extensive neurocytic elements. Two recently described cases were examined via fluorescence in situ hybridization (FISH), with one demonstrating isochromosome 17q (i17q) and the second exhibiting polysomies of chromosomes 2, 8, 17 and 22 (Fuller C, Fouladi M, Gajjar A, Dalton J, Sanford RA, Helton KJ (2000) Am J Clin Pathol 126: 277-283). Via FISH analysis, we found normal dosages of chromosomes 2, 8 and 17. Our case expands the histopathologic spectrum of ETANTR, illustrating marked neuronal differentiation towards neurocytes. The lack of common PNET-associated FISH abnormalities in this case adds to the limited cytogenetic genetic data on this rare pediatric embryonal neoplasm.