Johnson R E, Scheithauer B W, Dahlin D C
Mayo Clin Proc. 1982 Nov;57(11):719-22.
An 18-month-old white girl had a malignant melanotic neuroectodermal tumor of infancy of the left femur. Light microscopic findings of a biopsy specimen of the femoral lesion demonstrated the characteristic histologic features, that is, nests of small cells with hyperchromatic nuclei and scant cytoplasm lying within cleftlike spaces lined by cuboidal, melanin-producing cells. Electron microscopy confirmed both neuroblastic and melanocytic differentiation. Despite radiation and chemotherapy, an extensive pelvic tumor developed, which prompted laparotomy 20 months after the femoral biopsy, The apparently metastatic tumor was largely necrotic, but viable nests of undifferentiated small cells and rare individual melanin-containing cells were identified. The patient died 4 months later, at 3 years of age. This case is of particular importance because it is the first example of this tumor found in a long bone. No similar lesions were seen in 17,000 primary tumors of bone treated and seen in consultation at this institution. Its aggressively malignant clinical course is also unusual; only 6 of the 159 cases of melanotic neuroectodermal tumor of infancy reported to date have expressed malignant behavior.
一名18个月大的白人女孩患有左股骨婴儿恶性黑素神经性外胚层肿瘤。股骨病变活检标本的光镜检查结果显示出特征性组织学特征，即小细胞巢，细胞核深染，细胞质稀少，位于由立方状、产生黑色素的细胞衬里的裂隙样间隙内。电子显微镜证实了神经母细胞和黑素细胞分化。尽管进行了放疗和化疗，但仍出现了广泛的盆腔肿瘤，这促使在股骨活检20个月后进行剖腹手术。明显转移的肿瘤大部分坏死，但发现了未分化小细胞的存活巢和罕见的单个含黑色素细胞。患者4个月后死亡，年仅3岁。该病例尤为重要，因为它是在长骨中发现的这种肿瘤的首例。在该机构接受治疗并会诊的17000例原发性骨肿瘤中未发现类似病变。其侵袭性恶性临床病程也不常见；迄今为止报告的159例婴儿黑素神经性外胚层肿瘤病例中只有6例表现出恶性行为。
