Nonrandom involvement of the 12p12 breakpoint in chromosome abnormalities of childhood acute lymphoblastic leukemia
Nonrandom involvement of the 12p12 breakpoint in chromosome abnormalities of childhood acute lymphoblastic leukemia
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12p12断点非随机参与儿童急性淋巴细胞白血病染色体异常
DOI：
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发表时间：
1986
期刊：
影响因子：
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通讯作者：
S. Murphy
中科院分区：
文献类型：
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作者：
S. Raimondi;DorothyL. Williams;T. Callihan;S. Peiper;G. Rivera;S. Murphy
我们研究了23例急性淋巴细胞白血病（ALL）患儿的临床和生物学特征，其白血病骨髓核型包含涉及12号染色体短臂的异常。19例异常被分配到12 p12断点。儿童的中位年龄为5岁（范围2至13岁），其初始白细胞计数范围为1，800至424，000/microL（中位数30，000/microL）。21例患者（91%）具有常见表型ALL（CALLA+，HLA-DR+），包括3例前B细胞表型（CIg+）。其余2例为T细胞源性。法国-美国-英国（FAB）淋巴细胞白血病的形态学类型是L1，但在所有情况下，一个。中位随访时间为11个月，4名患者复发，另1名患者诱导治疗失败。所有病例的众数均小于50。三种不同的细胞遗传学模式，具有明显相似的临床表现，注意到：12号染色体末端缺失10例，明显平衡的相互易位6，不平衡易位7。所有易位都发生在12 p臂和不同的供体染色体之间，除了染色体7、9和17，它们参与了两次。只有两名患者有相同的易位：t（7;12）（q11;p12）。供体染色体和断裂点的这种不寻常的变化表明，涉及12 p的易位仅针对易位对的一个成员，即12号染色体。本研究中12 p异常的相对高频率（35个月内观察到的所有完全带状病例的10%）需要进一步研究。
We studied the presenting clinical and biologic features of 23 children with acute lymphoblastic leukemia (ALL) whose leukemic marrow karyotypes contained abnormalities involving the short arm of chromosome 12. Nineteen of the abnormalities were assigned to the 12p12 breakpoint. The median age of the children was 5 years (range 2 to 13 years) and their initial leukocyte counts ranged from 1,800 to 424,000/microL (median 30,000/microL). Twenty-one patients (91%) had common phenotype ALL (CALLA+, HLA-DR+), including three cases with a pre-B cell phenotype (CIg+). The remaining two cases were T cell in origin. The French-American-British (FAB) morphologic type of lymphoblastic leukemia was L1 in all cases but one. With a median follow-up of 11 months, four patients have relapsed and another failed induction therapy. The modal chromosome number in all cases was less than 50. Three distinct cytogenetic patterns, with apparently similar clinical manifestations, were noted: terminal deletions of chromosome 12 in 10 cases, apparently balanced reciprocal translocations in 6, and unbalanced translocations in 7. All translocations were between the 12p arm and different donor chromosomes except for chromosomes 7, 9, and 17, which participated twice. Only two patients had identical translocations: t(7;12)(q11;p12). This unusual variation in donor chromosomes and breakpoints suggests that translocations involving the 12p are specific with respect to only one member of the translocation pair, namely chromosome 12. The relatively high frequency of the 12p abnormalities in this study (10% of all completely banded cases seen over a 35-month period) warrants further investigation.