Department of Pediatrics, Pediatric Hematology-Oncology Division, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Clin Lymphoma Myeloma Leuk. 2022 Aug;22(8):e667-e679. doi: 10.1016/j.clml.2022.03.007. Epub 2022 Mar 19.
BCR::ABL1-like pre-B-ALL comprises a myriad of genetic lesions making molecular diagnosis challenging and expensive. Its frequency and outcome are less studied in resource-constraint settings.
154 pre-B-ALL cases (0-12 years) were enrolled as group 1 (37 cases of B-other-ALL) and group 2 (117 patients with recurrent translocations/ hyperdiploidy). Group 1 was evaluated for BCR::ABL1-like genetic lesions and copy-number abnormalities (CNAs) as per our published PACE approach supplemented with targeted RNA sequencing.
BCR::ABL1-like frequency was 5.2% (8 of 154) and 22% (8 of 37) with the PACE approach alone in the whole and B-other-ALL cohort, respectively. The addition of targeted RNA-sequencing had led to the frequency increasing to 9% (14 of 154) and 38% (14 of 37) in the whole and B-other-ALL cohort, respectively. P2RY8::CRLF2, IGH::CRLF2, and RCSD1::ABL1 were noted in 8 (57.1%), 4 (28.6%), and 2 (14.3%) patients, respectively. CNAs were noted in 56.7% (21 of 37) of patients. The BCR::ABL1-like group had a significantly higher initial WBC count of ≥ 50,000/mm (71.4%; P < .001) than group 2. The 4-year OS, EFS, RFS of group 1 was not statistically different from group 2, though RFS was borderline poor (84.2%, 51.7%, 56.9% Vs. 82.6%, 62.9%, 78% [P - .42, P - .53, P - .059]). The 4-year EFS and RFS for BCR::ABL1-like cases was 70.7% and 76.6%, respectively.
The sensitivity of detecting BCR::ABL1-like lesions had increased significantly from 22% using the PACE approach alone to 38% in B-other-ALLs with the integrated approach. Although outcomes were not statistically different, a higher percentage of relapses were noted in the B-other-ALL group.
BCR::ABL1 样前 B-ALL 包含多种遗传病变，使得分子诊断具有挑战性和昂贵。在资源有限的环境中，其频率和结果研究较少。
纳入 154 例前 B-ALL 病例（0-12 岁）作为第 1 组（37 例 B-其他 ALL）和第 2 组（117 例复发性易位/超二倍体患者）。第 1 组根据我们发表的 PACE 方法评估 BCR::ABL1 样遗传病变和拷贝数异常（CNAs），并辅以靶向 RNA 测序。
在整个队列和 B-其他 ALL 队列中，单独使用 PACE 方法检测到 BCR::ABL1 样频率分别为 5.2%（8/154）和 22%（8/37）。添加靶向 RNA 测序后，频率分别增加至 9%（14/154）和 38%（14/37）。在 8 例（57.1%）、4 例（28.6%）和 2 例（14.3%）患者中分别检测到 P2RY8::CRLF2、IGH::CRLF2 和 RCSD1::ABL1。56.7%（21/37）的患者存在 CNA。BCR::ABL1 样组的初始白细胞计数≥50,000/mm 明显更高（71.4%；P<.001）。与第 2 组相比，第 1 组的 4 年 OS、EFS、RFS 无统计学差异，尽管 RFS 略差（84.2%、51.7%、56.9%vs.82.6%、62.9%、78%[P-.42、P-.53、P-.059]）。BCR::ABL1 样病例的 4 年 EFS 和 RFS 分别为 70.7%和 76.6%。
单独使用 PACE 方法检测 BCR::ABL1 样病变的灵敏度从 22%显著提高到 B-其他 ALL 中的 38%。尽管结果无统计学差异，但 B-其他 ALL 组的复发比例较高。
