Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.
Genes Chromosomes Cancer. 2012 Jun;51(6):536-44. doi: 10.1002/gcc.21947. Epub 2012 Feb 15.
The chromosome number of human tumors varies widely, from near-haploidy to more than decaploidy. Overt hyperhaploid (24-34 chromosomes) tumors constitute a small minority (0.2-0.3% of cytogenetically investigated lesions), but occur in many different disease entities. In these karyotypes, most chromosomes are present in one copy; one or a few chromosomes are disomic. Published reports on 141 strictly hyperhaploid tumors, supplemented with nine previously unpublished cases, were used for evaluating the pattern of disomic chromosomes. Only one tumor type, acute lymphoblastic leukemia (ALL), was sufficiently common (n = 75) to allow proper evaluation; other neoplasms were lumped together in as reasonably logical groups as possible, including 10 myeloid leukemias (ML), nine plasma cell neoplasms (PCN), 13 chondrosarcomas (CS), 11 soft tissue tumors (STT), nine adeno- or squamous cell carcinomas (ASC), and eight tumors of the nervous system (TNS); the remaining 15 tumors could not be grouped. It was evident that the pattern of disomies is nonrandom. Moreover, unique signatures for each tumor group were detected. Among ALL, most disomies were independent of age and gender, except for disomy 10, which was overrepresented in females. Chromosome 21 was invariably disomic, whereas chromosome 17 was always monosomic. The most frequent disomies were two gonosomes in ML, chromosomes 7, 9, 11, 3, 18, and 19 in PCN, 7, 5, 20, 19, and 21 in CS, 20 in STT, 7 in ASC, and 1, 7, and 9 in TNS. Chromosome 1 was often partially disomic, due to unbalanced structural rearrangements, with segment 1q21-31 in common. Doubling of the hyperhaploid clone was found in at least one-third of the cases, apart from in ML where only one of 10 cases showed chromosome doubling. The present findings indicate that retention of disomy for some chromosomes is pathogenetically important and that the chromosome(s) maintained in two copies is related to cell type or histological context.
人类肿瘤的染色体数目变化很大，从近单体到超过十倍体。明显的超二倍体（24-34 条染色体）肿瘤构成了一小部分（细胞遗传学研究病变的 0.2-0.3%），但发生在许多不同的疾病实体中。在这些核型中，大多数染色体存在一份；一条或几条染色体是双体的。使用了 141 例严格的超二倍体肿瘤的已发表报告，补充了 9 例以前未发表的病例，用于评估双体染色体的模式。只有一种肿瘤类型，急性淋巴细胞白血病（ALL），足够常见（n=75），可以进行适当的评估；其他肿瘤尽可能合理地分组，包括 10 例髓样白血病（ML）、9 例浆细胞瘤（PCN）、13 例软骨肉瘤（CS）、11 例软组织肿瘤（STT）、9 例腺或鳞状细胞癌（ASC）和 8 例神经系统肿瘤（TNS）；其余 15 例肿瘤无法分组。显然，双体的模式是随机的。此外，还检测到每个肿瘤组的独特特征。在 ALL 中，大多数双体与年龄和性别无关，除了 10 号染色体，它在女性中过多。21 号染色体总是双体的，而 17 号染色体总是单体的。最常见的双体是 ML 中的两条性染色体，PCN 中的 7、9、11、3、18 和 19 号染色体，CS 中的 7、5、20、19 和 21 号染色体，STT 中的 20 号染色体，ASC 中的 7 号染色体，以及 TNS 中的 1、7 和 9 号染色体。由于不平衡的结构重排，1 号染色体经常部分双体，常见的有 1q21-31 片段。除了 10 例 ML 中有一例显示染色体加倍外，至少三分之一的病例中发现了超二倍体克隆的加倍。目前的发现表明，某些染色体保留双体对于发病机制很重要，并且保持两份拷贝的染色体与细胞类型或组织学背景有关。
