Raimondi S C, Pui C H, Hancock M L, Behm F G, Filatov L, Rivera G K
Departments of Pathology and Laboratory Medicine, St. Jude Children's Research Hospital, Memphis, TN, USA.
Leukemia. 1996 Feb;10(2):213-24.
We studied the fully banded chromosomes of 182 children with hyperdiploid (51-67) acute lymphoblastic leukemia (ALL) to better delineate the heterogeneity of this disease subtype. Forty-six percent of the cases had numerical changes exclusively, while the remainder had structural as well as numerical changes. Chromosome 21 was added most often (97% of cases), followed by chromosomes 6 (86%), X (81%), 14 (80%), 4 (76%), 18 (68%), 17 (68%), 10 (56%), 8 (34%) and 5 (26%). Chromosomal translocations, including the t(1;19)(q23;p13) and t(9;22)(q34;q11), were detected in only 20% of the cases, as compared with 50% in ALL in general. The most common structural alterations were duplication of the 1q arm and isochromosome of 17q, present in 25 (14%) and nine (5%) cases, respectively. The presence of absence of structural abnormalities in these cases did not influence event-free survival, as assessed in 168 patients enrolled in three successive protocols for children with newly diagnosed ALL. By contrast, patients with 51-55 chromosomes per leukemic cell (n=105) appeared to fare worse than the 56-67 subgroup (n=63) (5-year probability of event-free survival = 72 +/- 5% (s.e.) vs 86 +/- 5%; P=0.04 by the stratified log-rank test). The poorer prognosis of the 51-55 subgroup was partly due to the higher frequency of isochromosome of 17q; 6/7 patients with the isochromosome in this group have had an adverse event. Other unfavorable features within the hyperdiploid (51-55) ALL subgroup include a low prevalence of trisomies of chromosomes 4 and 10 and a higher proportion of patients with leukocyte counts greater than 50 X 10(9)/l when compared to hyperdiploid (56-67). Thus, ALL defined by 51-55 chromosomes appears to be a clinicobiologic entity quite distinct from cases with higher modal numbers.
我们研究了182例超二倍体（51 - 67条）急性淋巴细胞白血病（ALL）患儿的全带型染色体，以更好地描绘这种疾病亚型的异质性。46%的病例仅有数目改变，其余病例则同时有结构和数目改变。最常增加的染色体是21号染色体（97%的病例），其次是6号（86%）、X染色体（81%）、14号（80%）、4号（76%）、18号（68%）、17号（68%）、10号（56%）、8号（34%）和5号（26%）染色体。与ALL总体情况中50%的病例相比，在这些病例中仅20%检测到染色体易位，包括t(1;19)(q23;p13)和t(9;22)(q34;q11)。最常见的结构改变是1q臂重复和17q等臂染色体，分别出现在25例（14%）和9例（5%）病例中。在参加三个连续新诊断ALL患儿方案的168例患者中评估发现，这些病例中结构异常的有无并不影响无事件生存率。相比之下，每个白血病细胞有51 - 55条染色体的患者（n = 105）似乎比56 - 67亚组（n = 63）预后更差（5年无事件生存概率 = 72±5%（标准误）对86±5%；分层对数秩检验P = 0.04）。51 - 55亚组预后较差部分归因于17q等臂染色体频率较高；该组中7例有此等臂染色体的患者中有6例发生了不良事件。超二倍体（51 - 55）ALL亚组内的其他不良特征包括4号和10号染色体三体发生率低，以及与超二倍体（56 - 67）相比白细胞计数大于50×10⁹/L的患者比例更高。因此，由51 - 55条染色体定义的ALL似乎是一个与染色体数目更多的病例截然不同的临床生物学实体。
