Poopak Behzad, Saki Najmaldin, Purfatholah Ali Akbar, Najmabadi Hossein, Mortazavi Yosef, Arzanian Mohammad T, Khosravipour Gelareh, Haghnejad Fariba, Salari Fatemeh, Shahjahani Mohammad
Hematology. 2014 Jul;19(5):259-66. doi: 10.1179/1607845413Y.0000000126. Epub 2014 Jan 3.
Acute lymphoblastic leukemia (ALL) cells have unique rearranged immunoglobulin heavy chain (IgH), immunoglobulin light chain (IgK), and T-cell receptor (TCR) genes, which can be used as markers for clonality assay and evaluation of minimal residual disease. In this study, we have evaluated the pattern of IgH, IgK chains, and TCRG/D gene rearrangements in precursor-B ALL.
In our prospective study, hyper-variable regions (CDRI and III) of IgH, TCRD (Vδ2-Dδ3 and Dδ2-Dδ3), TCRG (Vγ, VγI, and VγII), and IgK (Vκ-Kde) were studied in 126 cases with diagnosis of B-precursor ALL.
One hundred and fourteen (90.5%) out of 126 patients had clonal rearrangements of IgH using consensus primers for CDRI and/or CDRIII regions. Monoclonal, biclonal, and oligoclonal patterns were observed in 63 (57.8%), 38 (34.9%), and 6 (5.5%) patients with IgH (CDRIII) rearrangements, respectively. Clonal rearrangements of TCRG (Vγ) and VγI/II were present in 79.3 and 64.9% of patients, respectively, and only 5% of cases showed biclonal pattern. The VγII rearrangement was the most common (46.8%) type in TCRG. Vδ2-Dδ3 and Dδ2-Dδ3 partial gene rearrangements were observed in 47 (45.2%; n = 104) and 11 (16.6%; n = 66) patients, respectively. Biclonal/oligoclonal patterns were present in 13 (27.7%) and 2 (4.3%) cases with Vδ2-Dδ3 rearrangement, respectively. Only one patient had biclonal Dδ2-Dδ3 rearrangement. Clonal pattern of IgK-Kde was detected in 59 cases (67%; n = 88).
Our findings showed that clonal rearrangements of IgH and TCRD (Vδ2-Dδ3 and Dδ2-Dδ3) genes had similar patterns to other studies. Frequency of TCRG (VγI and VγII) and IgK rearrangements was found to be slightly higher than previous reports. Among the IgK rearrangements, VKI (25%) was the most common.
急性淋巴细胞白血病（ALL）细胞具有独特重排的免疫球蛋白重链（IgH）、免疫球蛋白轻链（IgK）和T细胞受体（TCR）基因，这些基因可作为克隆性分析和微小残留病评估的标志物。在本研究中，我们评估了前体B-ALL中IgH、IgK链和TCRG/D基因重排模式。
在我们的前瞻性研究中，对126例诊断为B前体ALL的患者的IgH、TCRD（Vδ2-Dδ3和Dδ2-Dδ3）、TCRG（Vγ、VγI和VγII）以及IgK（Vκ-Kde）的高变区（CDR1和III）进行了研究。
126例患者中有114例（90.5%）使用针对CDR1和/或CDRIII区域的共有引物检测到IgH的克隆重排。在IgH（CDRIII）重排的患者中，分别观察到单克隆、双克隆和寡克隆模式的有63例（57.8%）、38例（34.9%）和6例（5.5%）。TCRG（Vγ）和VγI/II的克隆重排在患者中的比例分别为79.3%和64.9%，仅5%的病例显示双克隆模式。VγII重排在TCRG重排中是最常见的类型（46.8%）。分别在47例（45.2%；n = 104）和11例（16.6%；n = 66）患者中观察到Vδ2-Dδ3和Dδ2-Dδ3部分基因重排。Vδ2-Dδ3重排的病例中分别有13例（27.7%）和2例（4.3%）出现双克隆/寡克隆模式。只有1例患者出现双克隆Dδ2-Dδ3重排。在88例中有59例（67%）检测到IgK-Kde的克隆模式。
我们的研究结果表明，IgH和TCRD（Vδ2-Dδ3和Dδ2-Dδ3）基因的克隆重排模式与其他研究相似。发现TCRG（VγI和VγII）和IgK重排的频率略高于先前报道。在IgK重排中，VκI（25%）是最常见的。
