Pettinato G, Manivel J C, d'Amore E S, Jaszcz W, Gorlin R J
Department of Pathology, 2nd Medical School, University of Naples, Italy.
Am J Surg Pathol. 1991 Mar;15(3):233-45.
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), synaptophysin, HMB45, and dopamine-beta-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, alpha-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.
对10例婴儿黑色素性神经外胚层肿瘤（MNTI）进行了研究。其中男性9例，女性1例，年龄从2周龄至10个月龄；1例患者为8岁。肿瘤起源部位包括上颌骨（5例）、附睾（2例）、下颌骨（1例）、颅骨（1例）以及颊部软组织（1例）。6例肿瘤在诊断后1至18个月复发。1例患者发生广泛播散。对4例进行电子显微镜研究显示，细胞具有处于不同成熟阶段的黑素小体，以及具有神经母细胞特征的细胞，包括神经分泌颗粒和细胞质突起。对9例MNTI进行了免疫组织化学研究。所有病例中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、HMB45和多巴胺-β-羟化酶呈阳性反应，所有病例中的大细胞以及少数小细胞对细胞角蛋白（CK）和波形蛋白（VIM）呈阳性反应。3例大细胞中观察到上皮膜抗原，4例表达Leu 7抗原，3例胶质纤维酸性蛋白局灶阳性，1例结蛋白阳性，1例嗜铬粒蛋白阳性。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。对5例正常成人视网膜进行了类似研究；视网膜色素上皮对CK、VIM、HMB45、NSE和S-100呈阳性反应。对8个肿瘤进行DNA研究，发现2例为非整倍体（DNA指数分别为1.7和1.8）；这2例在1个月内复发。未观察到根据部位或行为的差异。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、黑色素生成、偶尔的胶质和横纹肌母细胞分化，且无光感受器分化。它可能代表一种胚胎发育异常性肿瘤，重现妊娠5周时的视网膜。
