Biegel J A, Rorke L B, Packer R J, Sutton L N, Schut L, Bonner K, Emanuel B S
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania 19104.
Genes Chromosomes Cancer. 1989 Nov;1(2):139-47. doi: 10.1002/gcc.2870010206.
We have prepared karyotypes from 22 primitive neuroectodermal tumors (PNETs) from pediatric patients ranging in age from 10 months to 16 years. Twenty-one cases were newly diagnosed, primary, posterior fossa tumors. One case was a recurrent tumor in a patient previously treated with radiation. Cytogenetic results were obtained from direct preparations and/or short-term (1-10 day) culture. Three tumors had apparently normal karyotypes. Nineteen tumors demonstrated numerical and/or structural abnormalities. The most frequent structural chromosomal changes were deletions and nonreciprocal translocations. Four tumors contained double minutes. Several chromosomes appear to be nonrandomly involved in PNETs. These include chromosomes 5, 6, 11, 16, 17, and a sex chromosome. The most consistent change, however, was an i(17q), present in one-third (8/22) of the cases. Strikingly, in three of these eight tumors, the i(17q) was the only structural abnormality observed. An i(17q) is not specific for pediatric PNETs, as it is also seen in leukemias and other solid tumors. However, in PNETs it may be a primary change related to tumor development and/or progression. Clinically, there was no correlation of the cytogenetic findings with histologic features of the tumors, size of the tumor, extent of metastasis, or surgical resection.
我们已对年龄在10个月至16岁之间的小儿患者的22例原始神经外胚层肿瘤（PNET）进行了核型分析。21例为新诊断的原发性后颅窝肿瘤。1例为曾接受过放疗患者的复发性肿瘤。细胞遗传学结果来自直接制片和/或短期（1 - 10天）培养。3例肿瘤的核型明显正常。19例肿瘤显示出数目和/或结构异常。最常见的染色体结构改变是缺失和非相互易位。4例肿瘤含有双微体。几条染色体似乎非随机地参与了PNET的发生。这些染色体包括5号、6号、11号、16号、17号染色体和一条性染色体。然而，最一致的改变是i(17q)，在三分之一（8/22）的病例中出现。引人注目的是，在这8例肿瘤中的3例中，i(17q)是观察到的唯一结构异常。i(17q)并非小儿PNET所特有，因为在白血病和其他实体瘤中也可见到。然而，在PNET中它可能是与肿瘤发生和/或进展相关的原发性改变。临床上，细胞遗传学结果与肿瘤的组织学特征、肿瘤大小、转移范围或手术切除情况均无相关性。
