O'Malley D P, Cousineau A J, Kulkarni R, Higgins J V
Cancer. 1986 Jun 1;57(11):2158-61. doi: 10.1002/1097-0142(19860601)57:11<2158::aid-cncr2820571113>3.0.co;2-t.
Two cases of childhood neuroblastoma are presented. Case 1 was diagnosed as Stage IV with metastasis to the bone marrow. During remission, histologic studies of bone marrow aspirate and biopsy showed a normocellular marrow with no evidence of malignant cells. Concurrent cytogenetic studies of the bone marrow showed the majority of the cells to contain double minute chromosomes (DM). The chromosome findings indicated the presence of neuroblastoma cells in the marrow prior to histologic evidence of relapse. Case 2 was diagnosed as Stage I neuroblastoma with no metastasis to the bone marrow. Subsequent cytogenetic studies showed DM present in a small number of cells and a deletion of chromosome 1 (1p-) in a single cell. The chromosome findings indicated an advanced stage of malignancy which was not evident with histologic techniques. These findings suggest that cytogenetic analysis of bone marrow can be a valuable aid to the early diagnosis, prognosis, and treatment of neuroblastoma.
本文介绍了两例儿童神经母细胞瘤病例。病例1被诊断为IV期，已发生骨髓转移。在缓解期，骨髓穿刺和活检的组织学研究显示骨髓细胞正常，无恶性细胞证据。同时进行的骨髓细胞遗传学研究显示，大多数细胞含有双微体染色体（DM）。染色体检查结果表明，在组织学复发证据出现之前，骨髓中就已存在神经母细胞瘤细胞。病例2被诊断为I期神经母细胞瘤，无骨髓转移。随后的细胞遗传学研究显示，少数细胞中存在DM，单个细胞中存在1号染色体缺失（1p-）。染色体检查结果表明存在恶性肿瘤晚期，这在组织学技术中并不明显。这些发现表明，骨髓细胞遗传学分析对神经母细胞瘤的早期诊断、预后评估和治疗具有重要价值。
