Price C G, Tuszynski A, Watt S M, Murdoch S J, Lister T A, Young B D
ICRF Department of Medical Oncology, St. Bartholomew's Hospital, London, UK.
Leukemia. 1991 Jul;5(7):548-54.
In vitro enzymatic amplification and direct sequencing were used to detect and characterize t(14;18) recombination junctions in peripheral blood and bone marrow mononuclear cell preparations from patients with follicular lymphoma in remission. Samples from 24/44 patients were found to be positive for translocations involving the major breakpoint region of the BCL2 gene. In samples from seven patients two distinct t(14;18) translocations were shown to be present simultaneously; in one case the second translocation involved the minor cluster region of the BCL2 gene. Biopsy tissue obtained earlier in the course of the disease was available from five of these patients and was shown to contain one of the translocations in each case, but both translocations in only one. Further remission blood and bone marrow samples from the group were also examined. This led to the detection of both translocations in separate samples obtained at different times in a total of four out of the seven cases. In two of the remaining three patients the second translocation could not be amplified from further samples, but in both cases the search led to the identification of a third translocation, again only detectable in a single sample. These findings demonstrate that JH/BCL2 translocations can occur more than once during the course of follicular lymphoma. They suggest that biclonal follicular lymphoma may be more common than has previously been recognized but also raise the possibility that the translocation arises sporadically in the normal lymphoid cells of this group of patients.
采用体外酶促扩增和直接测序技术，对处于缓解期的滤泡性淋巴瘤患者外周血和骨髓单个核细胞制剂中的t(14;18)重组连接点进行检测和特征分析。在44例患者中，有24例样本检测到涉及BCL2基因主要断裂点区域的易位呈阳性。在7例患者的样本中，显示同时存在两种不同的t(14;18)易位；在1例中，第二种易位涉及BCL2基因的小簇区域。这7例患者中有5例可获取疾病早期的活检组织，结果显示每例均含有其中一种易位，但仅1例含有两种易位。还对该组患者缓解期的血液和骨髓样本进行了进一步检测。这使得在7例中的4例患者不同时间获取的单独样本中检测到了两种易位。在其余3例患者中的2例，无法从进一步的样本中扩增出第二种易位，但在这两种情况下，检测均发现了第三种易位，同样仅在单个样本中可检测到。这些发现表明，在滤泡性淋巴瘤病程中，JH/BCL2易位可能不止发生一次。它们提示双克隆滤泡性淋巴瘤可能比之前认为的更为常见，但也增加了这种易位在该组患者正常淋巴细胞中散在发生的可能性。
