Mir Rashid, Ahmad I, Javid J, Zuberi M, Yadav P, Shazia R, Masroor M, Guru S, Ray P C, Gupta N, Saxena A
Cancer Genetics Lab, Department of Biochemistry and Associated Hospitals, New Delhi, India.
Indian J Cancer. 2015 Jul-Sep;52(3):314-8. doi: 10.4103/0019-509X.176741.
Chronic myeloid leukemia (CML) is characterized by the Philadelphia chromosome, an abnormally shortened chromosome 22. It is the result of a reciprocal translocation of chromosomes 9 and 22, creating BCR-ABL fusion transcripts, b3a2, b2a2, and e1a2. The aim of our study was to determine the type of BCR-ABL fusion transcripts for molecular diagnosis and investigate the frequency of BCR-ABL fusion transcripts in CML patients by multiplex RT-PCR in CML.
A single reaction with multiple primers multiplex PCR was used to detect and investigate the type and frequency in 200 CML patients among which 116, 33, and 51 were in CP, AP, and BC phase, respectively.
The study included 200 CML patients, among whom breakpoints in b3a2, b2a2 transcripts were detected in 68% and 24%, respectively, while 8% of the patients showed both b3a2/b2a2. A statistically significant difference was seen between frequency of BCR-ABL fusion transcripts and gender (P = 0.03), molecular response (P = 0.04), and hematological response (P = 0.05). However, there was no correlation found between frequencies of BCR-/ABL fusion transcripts and other clinicopathological parameters like age, type of therapy, thrombocytopenia, and white blood cell count.
Multiplex reverse transcriptase-polymerase chain reaction is useful and saves time in the detection of BCR-ABL variants; the occurrence of these transcripts associated with CML can assist in prognosis and treatment of disease.
慢性髓性白血病(CML)的特征是费城染色体,即异常缩短的22号染色体。它是9号和22号染色体相互易位的结果,产生了BCR-ABL融合转录本,即b3a2、b2a2和e1a2。我们研究的目的是确定用于分子诊断的BCR-ABL融合转录本类型,并通过多重逆转录聚合酶链反应(multiplex RT-PCR)研究慢性髓性白血病患者中BCR-ABL融合转录本的频率。
使用多重引物多重PCR的单一反应来检测和研究200例慢性髓性白血病患者中的类型和频率,其中116例、33例和51例分别处于慢性期(CP)、加速期(AP)和急变期(BC)。
该研究纳入了200例慢性髓性白血病患者,其中分别在68%和24%的患者中检测到b3a2、b2a2转录本的断点,而8%的患者同时显示b3a2/b2a2。BCR-ABL融合转录本的频率与性别(P = 0.03)、分子反应(P = 0.04)和血液学反应(P = 0.05)之间存在统计学显著差异。然而,未发现BCR-/ABL融合转录本的频率与年龄、治疗类型、血小板减少症和白细胞计数等其他临床病理参数之间存在相关性。
多重逆转录聚合酶链反应在检测BCR-ABL变异体方面是有用的且节省时间;这些与慢性髓性白血病相关的转录本的出现有助于疾病的预后和治疗。