Morgan R, Jarzabek V, Jaffe J P, Hecht B K, Hecht F, Sandberg A A
Hum Genet. 1986 Jul;73(3):260-3. doi: 10.1007/BF00401240.
Telomeric fusion, a rare phenomenon, was observed in malignant cells from the peripheral blood of an 18-year-old male with rapidly progressive pre-T-cell acute lymphoblastic leukemia (ALL). Only two comparable cases, both with B-cell ALL, have been reported with telomeric fusion in neoplasia. All of the leukemic cells examined from our patient had two chromosome abnormalities consisting of partial triplication (trp) of chromosome 2 and a derivative chromosome 3. Approximately a third of the leukemic cells showed in addition telomere-telomere fusions. These involved the telomeric regions of 1p, 2p, 4q, 5q, 7q, 10q, 11q, 12p, 15p, 21p, and Xq and 3p of the derivative (3). The findings in this case suggest that telomeric fusion may function as a mechanism for the development of chromosome rearrangements that may play a role, albeit rarely, in human neoplasia.
在一名患有快速进展型前T细胞急性淋巴细胞白血病(ALL)的18岁男性外周血恶性细胞中观察到端粒融合,这是一种罕见现象。仅有两例类似病例被报道过端粒融合,均为B细胞ALL。我们患者的所有检测白血病细胞均有两种染色体异常,包括2号染色体部分三体重复(trp)和一条衍生的3号染色体。此外,约三分之一的白血病细胞显示出端粒-端粒融合。这些融合涉及1p、2p、4q、5q、7q、10q、11q、12p、15p、21p、Xq的端粒区域以及衍生3号染色体的3p。该病例的发现表明,端粒融合可能作为一种机制,导致染色体重排,尽管在人类肿瘤中作用罕见,但仍可能发挥作用。