Panarello C, Morerio C, Russo I, Pasquali F, Rapella A, Corrias M V, Morando A, Rosanda C
Divisione di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, Genova, Italy.
Cancer Genet Cytogenet. 2000 Jan 15;116(2):124-32. doi: 10.1016/s0165-4608(99)00140-5.
Recent studies have shown that structural abnormalities of chromosome 17 resulting in gain of material are the most frequent genetic changes in neuroblastoma. We have established a new neuroblastoma cell line from a patient whose disease had evolved from stage 4s to 4, without evidence of deletion of the short arm of chromosome 1 and MYCN amplification, which are considered the most typical genetic indicators of aggressive disease. The cytogenetic study allowed a full characterization of the chromosome changes, and revealed a complex translocation of chromosome 17 leading to a derivative marker which may be described as follows: der(11)t(11;17)(p15;q12)t(11;17) (q22;q12). This resulted in a gain of part of the long arms of chromosome 17, which was recently associated with poor prognosis.
最近的研究表明，17号染色体结构异常导致物质增加是神经母细胞瘤中最常见的基因变化。我们从一名疾病已从4s期发展到4期的患者身上建立了一种新的神经母细胞瘤细胞系，该患者没有1号染色体短臂缺失和MYCN扩增的证据，而这两者被认为是侵袭性疾病最典型的基因指标。细胞遗传学研究对染色体变化进行了全面表征，并揭示了17号染色体的复杂易位，导致一个衍生标记，可描述如下：der(11)t(11;17)(p15;q12)t(11;17)(q22;q12)。这导致17号染色体长臂部分增加，最近发现这与预后不良有关。
