2 MALIGNANT PERIPHERAL PRIMITIVE NEUROEPITHELIAL TUMOR-CELL LINES ESTABLISHED FROM CONSECUTIVE SAMPLES OF ONE PATIENT - CHARACTERIZATION AND CYTOGENETIC ANALYSIS
2 MALIGNANT PERIPHERAL PRIMITIVE NEUROEPITHELIAL TUMOR-CELL LINES ESTABLISHED FROM CONSECUTIVE SAMPLES OF ONE PATIENT - CHARACTERIZATION AND CYTOGENETIC ANALYSIS
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DOI：
10.1002/gcc.2870040302
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发表时间：
1992-04-01
影响因子：
3.7
通讯作者：
GARSON, OM
中科院分区：
文献类型：
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作者：
KEES, UR;RUDDUCK, C;GARSON, OM
一名6岁女孩出现右肩肿瘤，肿瘤累及骨骼、邻近软组织和区域淋巴结。传统的组织学诊断是模棱两可的，最初是淋巴瘤。在淋巴瘤治疗复发后，通过对活检组织和来自活检组织的两个细胞系进行额外的多种诊断技术的重新评估，确定了骨和软组织的原始神经上皮性肿瘤的诊断。1)肿瘤细胞形成局灶性花环，神经元特异性烯醇化酶和突触素免疫染色阳性，未见白细胞共同抗原染色；2)在超微结构水平上，MYC表达增加，MYCN基因不表达，细胞间形成长的“中间”连接，细胞间形成较长的“中间”连接；3)W 6/32表面明显阳性，HSAN 1.2抗体阴性；4)MYC表达升高，MYCN基因不过度表达。核型中存在数量和结构异常，但预期的t(11；22)(q24；q12)不存在于肿瘤骨髓或任何已建立的肿瘤细胞系中，尽管存在11q的间隙缺失，涉及q21和q23中的断裂点。
A 6-year-old girl presented with a tumor of the right shoulder involving bone, adjacent soft tissue, and regional lymph nodes. The conventional histologic diagnosis was ambiguous, initially suggesting lymphoma. After relapse on lymphoma therapy, reevaluation with additional multiple diagnostic techniques performed on the biopsy tissue and on two cell lines derived from the biopsies established the diagnosis of a primitive neuroepithelial tumor of bone and soft tissue. This was strongly supported by 1) focal rosette formation by the tumor cells and positive immunostaining for neuron-specific enolase and synaptophysin, with absent staining for leukocyte common antigen; 2) at the ultrastructural level, formation of cellular processes containing microtubules, a paucity of neurosecretory granules, absence of synaptic junctions, formation of long "intermediate" junctions between cells, and, in culture, widespread development of rosettes; 3) marked surface positivity to W 6/32 and negativity to HSAN 1.2 antibodies; and 4) elevated expression of MYC and lack of overexpression of MYCN oncogenes. Numerical and structural abnormalities were present in the karyotype, but the expected t(11;22)(q24;q12) was not present in the tumor-involved marrow or in either of the established tumor cell lines, although there was an interstitial deletion of 11q involving breakpoints in q21 and q23.