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13三体综合征:急性白血病中一种新的复发性染色体异常。

Trisomy 13: a new recurring chromosome abnormality in acute leukemia.

作者信息

Döhner H, Arthur D C, Ball E D, Sobol R E, Davey F R, Lawrence D, Gordon L, Patil S R, Surana R B, Testa J R

机构信息

Cancer and Leukemia Group B, Boston, MA.

出版信息

Blood. 1990 Oct 15;76(8):1614-21.

PMID:1698482
Abstract

A new recurring chromosome abnormality was identified in 8 of 621 consecutive successfully karyotyped adults with de novo acute leukemia. These eight patients had trisomy 13 as the sole cytogenetic abnormality. On central morphologic review, five cases were classified as subtypes of acute myeloid leukemia, one as acute mixed lymphoid and myeloid leukemia, one as acute lymphoid leukemia, and one as acute undifferentiated leukemia. Blasts of all eight cases expressed one or more myeloid differentiation antigens. Three also expressed T-lineage-associated antigens; however, none of these had rearrangement of the T-cell receptor beta, gamma, or delta genes. Four of six cases tested were TdT positive. All eight patients with trisomy 13 were treated with intensive induction chemotherapy; only three entered a short-lived complete remission. Survival of patients with trisomy 13 ranged from 0.5 to 14.7 months, and was significantly shorter than that of the remaining patients (median 9.5 v 16.2 months, P = .007). We conclude that trisomy 13 is a rare, recurring clonal chromosome abnormality in acute leukemia associated with a poor prognosis. Malignant transformation of an immature hematopoietic precursor cell is suggested by the expression of antigens characteristic of both the myeloid and lymphoid lineage, the high incidence of TdT positivity, and the morphologic heterogeneity in these leukemias.

摘要

在621例连续成功进行核型分析的新发急性白血病成人患者中,发现8例存在一种新的复发性染色体异常。这8例患者均以13号染色体三体作为唯一的细胞遗传学异常。经中心形态学评估,5例被归类为急性髓系白血病亚型,1例为急性混合性淋巴细胞和髓系白血病,1例为急性淋巴细胞白血病,1例为急性未分化白血病。所有8例患者的原始细胞均表达一种或多种髓系分化抗原。3例还表达T系相关抗原;然而,这些患者均未出现T细胞受体β、γ或δ基因重排。6例检测患者中有4例末端脱氧核苷酸转移酶(TdT)阳性。所有8例13号染色体三体患者均接受了强化诱导化疗;只有3例进入短暂的完全缓解期。13号染色体三体患者的生存期为0.5至14.7个月,显著短于其余患者(中位生存期分别为9.5个月和16.2个月,P = 0.007)。我们得出结论,13号染色体三体是急性白血病中一种罕见的、复发性的克隆性染色体异常,预后较差。髓系和淋巴系特征性抗原的表达、TdT高阳性率以及这些白血病的形态学异质性提示存在未成熟造血前体细胞的恶性转化。

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