Melanotic Neuroectodermal Tumor of Infancy: A Reexamination of a Histogenetic Problem Based on Immunohistochemical, Flow Cytometric, and Ultrastructural Study of 10 Cases
Melanotic Neuroectodermal Tumor of Infancy: A Reexamination of a Histogenetic Problem Based on Immunohistochemical, Flow Cytometric, and Ultrastructural Study of 10 Cases
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婴儿黑色素神经外胚层肿瘤：基于10例免疫组织化学、流式细胞术和超微结构研究的组织遗传学问题的重新审视
DOI：
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发表时间：
1991
影响因子：
5.6
通讯作者：
R. Gorlin
中科院分区：
文献类型：
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作者：
G. Pettinato;Manivel Jc;E. d'Amore;W. Jaszcz;R. Gorlin
本文报告10例婴儿黑色素性神经外胚叶瘤。有9名男性和1名女性，年龄范围为2周至10个月; 1名患者为8岁。起源部位为上颌骨（5个）、附睾（2个）、下颌骨（1个）、颅骨（1个）和脸颊软组织（1个）。术后1 ~ 18个月复发6例。1例患者广泛传播。4例电镜观察显示黑素体细胞处于不同成熟阶段，细胞具有神经母细胞特征，包括神经分泌颗粒和细胞质突起。本文对9例MNTI进行了免疫组化研究。所有病例的小神经母细胞和大细胞对神经元特异性烯醇化酶（NSE）、突触素、HMB 45和多巴胺-β-羟化酶呈阳性反应，所有病例的大细胞和少数小细胞对细胞角蛋白（CK）和波形蛋白（Vim）呈阳性反应。3例大细胞上皮膜抗原阳性，4例Leu 7抗原阳性，3例胶质细胞酸性蛋白灶性阳性，1例结蛋白灶性阳性，1例嗜铬粒蛋白灶性阳性。所有病例对视黄醇结合蛋白、神经丝、甲胎蛋白、S-100蛋白和癌胚抗原均无反应。五个正常成人视网膜进行了类似的研究，视网膜色素上皮细胞CK，Vim，HMB 45，NSE和S-100反应。在8个肿瘤中进行的DNA研究显示2个肿瘤为非整倍体（DNA指数= 1.7和1.8）;这些病例在1个月内复发。根据部位或行为，未观察到差异。MNTI是一种原始神经外胚层肿瘤，具有神经和上皮标志物的多表型表达、黑色素产生、偶尔神经胶质细胞和横纹肌母细胞分化，并且没有感光细胞分化。它可能代表胚胎发育不良的肿瘤，在妊娠5周时重现视网膜。
Ten cases of melanotic neuroectodermal tumor of infancy (MNTI) were studied. There were nine males and one female ranging in age from 2 weeks to 10 months; one patient was 8 years old. Sites of origin were the maxilla (five), epididymis (two), mandible (one), skull (one), and soft tissues of the cheek (one). Six tumors recurred from 1 to 18 months after diagnosis. One patient had widespread dissemination. Electron microscopic study of four cases showed cells with melanosomes at various stages of maturation, and cells with neuroblastic features, including neurosecretory granules and cytoplasmic processes. Nine cases of MNTI were studied immunohistochemically. Small neuroblastic cells and large cells in all cases were reactive for neuron-specific enolase (NSE), synap-tophysin, HMB45, and dopamine-P-hydroxylase, large cells in all cases and few small cells were reactive for cytokeratin (CK) and vimentin (VIM). Epithelial membrane antigen was observed in large cells in three cases, four cases expressed Leu 7 antigen, three were focally positive for glial fibrillary acidic protein, one for desmin, and one for chromogranin. All cases were nonreactive for retinol-binding protein, neurofilaments, a-fetoprotein, S-100 protein, and carcinoembryonic antigen. Five normal adult retinas were studied similarly; the pigmented epithelium of the retina was reactive for CK, VIM, HMB45, NSE, and S-100. DNA study, performed in eight tumors, revealed aneuploidy in two (DNA index = 1.7 and 1.8); these cases recurred within 1 month. No differences were observed according to site or behavior. MNTI is a primitive neuroectodermal tumor with polyphenotypic expression of neural and epithelial markers, melanin production, occasional glial, and rhabdomyoblastic differentiation, and no photoreceptor differentiation. It probably represents a dysembryogenetic neoplasm that recapitulates the retina at 5 weeks of gestation.