Rubinstein R, Purves L R
Department of Haematology, University of Cape Town, South Africa.
Leukemia. 1998 Feb;12(2):230-2. doi: 10.1038/sj.leu.2400917.
Reverse transcription polymerase chain reaction was used to detect an unusual BCR/ABL transcript in a patient who presented with thrombocythaemia and was Philadelphia chromosome positive but weakly reactive to conventional BCR/ABL fusion probes. Sequencing revealed the presence of a 12 bp insert between BCR exon2 (b2) and ABL exon2 (a2). In such cases the use of conventional BCR/ABL probes may lead to false negative results. This is the first report of this transcript. Clinically the patient has responded well to therapy.
采用逆转录聚合酶链反应检测一名患有血小板增多症且费城染色体阳性但对传统BCR/ABL融合探针反应较弱的患者体内一种异常的BCR/ABL转录本。测序显示在BCR外显子2（b2）和ABL外显子2（a2）之间存在一个12 bp的插入片段。在这种情况下，使用传统的BCR/ABL探针可能会导致假阴性结果。这是该转录本的首次报道。临床上该患者对治疗反应良好。
