Nowell P C
Hum Pathol. 1981 Jun;12(6):522-30. doi: 10.1016/s0046-8177(81)80066-4.
A chromosomally abnormal clone is demonstrable in the bone marrow of a significant number of patients with hemic disorders that carry an increased risk for the subsequent development of leukemia. These "preleukemia" states include a variety of cytopenias, myeloproliferative disorders, and childhood syndromes. The cytogenetic alterations that occur nonrandomly in these dyscrasias are often similar to those observed in acute nonlymphocytic leukemia and in the accelerated phase of chronic granulocytic leukemia: monosomy for chromosome 7; trisomy for 8,9,21, and the long arm of 1(1q); deletions of 5 and 20 (5q-, 20q-); and an isochromosome derived from 17 (iso 17q). These findings support the view that despite clinical differences, these various preleukemic disorders are all characterized by the presence in the hematopoietic tissues of a clone of cells derived from an altered hemic stem cell. Furthermore, the data suggest that preleukemia, chronic leukemia, and acute leukemia may be fundamentally similar diseases, differing primarily in the rate at which the aberrant clone is expanding. Chromosome studies may be of prognostic value in the cytopenic preleukemias. Patients with abnormalities show a decreased survival and are at increased risk for progression to acute nonlymphocytic leukemia. In the myeloproliferative disorders and the preleukemic childhood disorders, cytogenetic alterations are not clearly predictive, and aberrant clones may persist for years without clinical progression.
在许多血液系统疾病患者的骨髓中可检测到染色体异常克隆,这些患者后续发生白血病的风险增加。这些“白血病前期”状态包括各种血细胞减少症、骨髓增殖性疾病和儿童综合征。这些血液系统疾病中非随机出现的细胞遗传学改变通常与急性非淋巴细胞白血病和慢性粒细胞白血病加速期观察到的改变相似:7号染色体单体;8、9、21号染色体及1号染色体长臂(1q)三体;5号和20号染色体缺失(5q-、20q-);以及源自17号染色体的等臂染色体(iso 17q)。这些发现支持了这样一种观点,即尽管存在临床差异,但这些不同的白血病前期疾病的共同特征是造血组织中存在源自改变的造血干细胞的细胞克隆。此外,数据表明白血病前期、慢性白血病和急性白血病可能是本质上相似的疾病,主要区别在于异常克隆的扩增速度。染色体研究对血细胞减少性白血病前期可能具有预后价值。有异常的患者生存率降低,进展为急性非淋巴细胞白血病的风险增加。在骨髓增殖性疾病和儿童白血病前期疾病中,细胞遗传学改变并不能明确预测病情,异常克隆可能持续数年而无临床进展。