der(5)t(5;7)(q11.2;p11.2)：恶性髓系疾病中一种新的复发性异常。
Der(5)t(5;7)(q11.2;p11.2): a new recurring abnormality in malignant myeloid disorders.
作者信息
Thangavelu M, Bitter M A, Larson R A, Davis E M, Rowley J D, Le Beau M M
机构信息
Department of Medicine, University of Chicago, Illinois 60637.
出版信息
Cancer Genet Cytogenet. 1989 Jan;37(1):1-8. doi: 10.1016/0165-4608(89)90067-8.
Complete or partial monosomy for the long arm of chromosomes 5 and/or 7 is frequently observed in malignant cells from patients with a therapy-related myelodysplastic syndrome (t-MDS) or therapy-related acute nonlymphocytic leukemia (t-ANLL). Partial monosomy is usually the result of a chromosomal deletion; however, unbalanced translocations have also been observed. We have identified one such translocation in three patients who had either t-ANLL or a primary MDS. The genetic consequences of this translocation [-5,-7,+der(5)t(5;7)(q11.2;p11.2)] are partial monosomy for the long arm of chromosome 5 and complete monosomy for the long arm of chromosome 7. Thus, this rearrangement may represent a new, recurring abnormality that is associated with malignant myeloid disorders.
在患有治疗相关骨髓增生异常综合征（t-MDS）或治疗相关急性非淋巴细胞白血病（t-ANLL）的患者的恶性细胞中，经常观察到5号和/或7号染色体长臂的完全或部分单体性。部分单体性通常是染色体缺失的结果；然而，也观察到了不平衡易位。我们在三名患有t-ANLL或原发性MDS的患者中鉴定出了一种这样的易位。这种易位[-5,-7,+der(5)t(5;7)(q11.2;p11.2)]的遗传后果是5号染色体长臂的部分单体性和7号染色体长臂的完全单体性。因此，这种重排可能代表一种与恶性髓系疾病相关的新的复发性异常。
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