Lo R, Perlman E, Hawkins A L, Hayashi R, Wechsler D S, Look A T, Griffin C A
Oncology Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Cancer Genet Cytogenet. 1994 May;74(1):30-4. doi: 10.1016/0165-4608(94)90025-6.
Neuroblastomas are common solid tumors in children. We report chromosome analysis of two neuroblastomas, each studied at diagnosis and at recurrence. The first case was a clinical stage D tumor which showed 45,X-Y, add(1)(p34),der(15)t(Y;15)(q11;p13), and double minutes on cytogenetic analysis at diagnosis. At recurrence, the same structural abnormalities were present along with a homogeneously staining region (hsr) at 8q22, 19p12, or 3p23 in each of three related clones. The hsr were shown to represent amplification of the N-myc gene by in situ hybridization. Cytogenetic analysis of the second tumor, stage D-S, showed 48-54,XX,der(1)add (1)(q41), +2, +7, +7, inv(9), +17, + mar. The lack of demonstrative involvement of 1p or visible evidence of gene amplification has also characterized the limited number of D-S specimens previously described, suggesting that stage D-S neuroblastoma indeed differs from stage D disease at the genetic level.
神经母细胞瘤是儿童常见的实体瘤。我们报告了两例神经母细胞瘤的染色体分析结果，每例均在诊断时和复发时进行了研究。第一例是临床D期肿瘤，诊断时的细胞遗传学分析显示为45,X-Y, add(1)(p34),der(15)t(Y;15)(q11;p13)，以及双微体。复发时，在三个相关克隆中的每一个中，除了相同的结构异常外，在8q22、19p12或3p23处还出现了一个均匀染色区（hsr）。通过原位杂交显示，hsr代表N-myc基因的扩增。第二例肿瘤为D-S期，细胞遗传学分析显示为48-54,XX,der(1)add (1)(q41), +2, +7, +7, inv(9), +17, + mar。先前描述的有限数量的D-S标本也具有1p未显示受累或基因扩增的可见证据的特点，这表明D-S期神经母细胞瘤在基因水平上确实与D期疾病不同。
