Feng B Z, Lei J L, Shao Z H, Ji L X, Yang C L
Institute of Hematology, Chinese Academy of Medical Sciences, Tianjing.
Yi Chuan Xue Bao. 1999;26(2):93-8.
By using R-banding karyotypic analysis technique, the bone marrow (BM) cells were performed in 223 hematopoietic malignacies and 105 diopathic throbocytopenic purpura (ITP), which served as control. The following results were obtained: (1) Nonrandom chromosome loss (NCL), such as, -11, -14, -21, etc, which were found in the affected members of leukemia families, were found in about 30% sporadic ANLL, MDS and about 50% ALL, espedislly in 100% (5/5) CLL, but not found in ITP (P < 0.001). These results indicated that the familial nonrandom chromosome loss were associated with leukomogenesis. (2) Because most of BM cells are hypodiploed and have the same kinds of NCL in each cases of CLL, which can develop into ALL, ANLL and also cancers, ALL BM hypo- and hyper-diploid and/or polyploid cells might be origin of hypodiploid cells. (3) 28% (6/21) of pediatric patients with AL, MDS, or FA (Fanconi Anemia) have one parent, who have up to 30% BM hypodiploid cells and similar kinds of NCL and also have the rearrangement of C-erbB and abnormal proliferation of BM. The NCL were found in the three consecutive generations of a family with 5 ALL among 10 members of third generation. It indicated that the familial NCL might be inherited and be coded by a unknown gene alteration, which might be related to leukomo and carcinogenesis, because there are genes or their candidates for leukemia in the chromosomes 11, 14 and 21. (4) Based on the works of my colleages and I, the model of leukomo and carcinogenesis was proposed and the relationship between chromosome monosomy, deletion, translocations and leukomogenesis were showed elswhere. The significance of monosomy 11, 14 and 21 etc. were discussed briefly.
运用R带核型分析技术，对223例造血系统恶性肿瘤患者及105例作为对照的特发性血小板减少性紫癜（ITP）患者的骨髓（BM）细胞进行了检测。获得以下结果：（1）非随机染色体丢失（NCL），如-11、-14、-21等，在白血病家族的患病成员中出现，在约30%的散发性急性非淋巴细胞白血病（ANLL）、骨髓增生异常综合征（MDS）和约50%的急性淋巴细胞白血病（ALL）中也有发现，尤其是在100%（5/5）的慢性淋巴细胞白血病（CLL）中出现，但在ITP中未发现（P<0.001）。这些结果表明家族性非随机染色体丢失与白血病发生有关。（2）由于大多数CLL病例的BM细胞为亚二倍体且各病例具有相同类型的NCL，其可发展为ALL、ANLL以及癌症，所以所有BM亚二倍体和超二倍体及/或多倍体细胞可能是亚二倍体细胞的起源。（3）28%（6/21）的患有急性白血病（AL）、MDS或范可尼贫血（FA）的儿科患者有一位父母，其骨髓中有高达30%的亚二倍体细胞以及类似类型的NCL，同时还有C-erbB重排和骨髓异常增殖。在一个家族的连续三代中发现了NCL，该家族第三代的10名成员中有5例ALL。这表明家族性NCL可能是可遗传的，且由未知的基因改变编码，这可能与白血病和致癌作用有关，因为在11号、14号和21号染色体上存在白血病相关基因或其候选基因。（4）基于我和同事的研究工作，提出了白血病和致癌作用的模型，并在其他地方展示了染色体单体性、缺失、易位与白血病发生之间的关系。简要讨论了11号、14号和21号等单体性的意义。
