Raimondi S C, Privitera E, Williams D L, Look A T, Behm F, Rivera G K, Crist W M, Pui C H
Department of Pathology/Laboratory Medicine, St Jude Children's Research Hospital 38105.
Blood. 1991 May 1;77(9):2016-22.
We identified seven new recurring translocations among 483 cases of acute lymphoblastic leukemia (ALL) with adequate chromosome banding studies. Four were apparently balanced [t(1;3)(p34;p21), t(7;9)(p15;p23-p24), t(12;13)(p13;q14), t(17;19)(q22;p13)], while three were unbalanced with the formation of a dicentric chromosome [dic(7;9)(p13;p11), dic(7;12)(p11;p12), and dic(12;17)(p11;p11-p12)]. One translocation was observed in five cases, two in four cases, and the remaining four in two cases each. The modal chromosome numbers in these 21 cases were 45 (n = 11), 46 (n = 8), and 47 (n = 2). Eight of the 11 cases with a dicentric chromosome had a modal number of 45. Only a single translocation was found in 14 cases (67%), representing the sole structural abnormality in six cases. In three of the seven translocation subgroups, the blast cells were consistently of B lineage (pre-B, early pre-B, or both); in all others, they represented both the B and T lineages. The small size of these subgroups prevented definitive clinical correlations, although it may be important that two of the four cases with a t(17;19) and an early pre-B-cell immunophenotype had disseminated intravascular coagulation, an event usually observed in acute promyelocytic leukemia or T-cell ALL. These findings add substantially to the existing list of nonrandom chromosomal translocations in childhood ALL and may help to explain the genetic alterations leading to the loss of normal growth control mechanisms in this disease.
在483例进行了充分染色体显带研究的急性淋巴细胞白血病(ALL)病例中,我们鉴定出7种新的复发性易位。其中4种明显为平衡性易位[t(1;3)(p34;p21)、t(7;9)(p15;p23 - p24)、t(12;13)(p13;q14)、t(17;19)(q22;p13)],而另外3种为不平衡性易位,形成了双着丝粒染色体[dic(7;9)(p13;p11)、dic(7;12)(p11;p12)和dic(12;17)(p11;p11 - p12)]。一种易位在5例中观察到,两种易位在4例中观察到,其余4种易位各在2例中观察到。这21例病例的众数染色体数分别为45(n = 11)、46(n = 8)和47(n = 2)。11例有双着丝粒染色体的病例中,8例的众数染色体数为45。14例(67%)仅发现单一易位,其中6例这是唯一的结构异常。在7个易位亚组中的3个,原始细胞始终为B系(前B细胞、早前B细胞或两者皆有);在所有其他亚组中,原始细胞代表B系和T系。这些亚组规模较小,无法得出明确的临床关联,不过有重要意义的是,4例有t(17;19)且免疫表型为早前B细胞的病例中有2例发生了弥散性血管内凝血,这一情况通常见于急性早幼粒细胞白血病或T细胞ALL。这些发现极大地扩充了儿童ALL中非随机染色体易位的现有列表,可能有助于解释导致该疾病中正常生长控制机制丧失的基因改变。