Clinical Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Pediatric Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt.
Int J Lab Hematol. 2021 Apr;43(2):235-243. doi: 10.1111/ijlh.13369. Epub 2020 Oct 19.
The role of structural abnormalities in high hyperdiploidy (HeH) has been debatable, with few studies that addressed recurrent translocations with concurrent HeH (t-HeH). We aimed at the characterization of HeH cases in pediatric B-acute lymphoblastic leukemia (B-ALL) patients with special emphasis on the structural abnormalities including t-HeH.
Our study included all patients diagnosed with HeH over the period from January 2016 to April 2019 presenting to the Pediatric Oncology Department, National Cancer Institute, Cairo University.
Among 480 de novo B-ALL pediatric patients, HeH was detected in eighty (16.7%) cases with a median age of 5 years. t-HeH was identified in 17/480 (3.5%) cases: 9(1.9%) with t(12;21), 7(1.5%) with t(9;22), and 1(0.2%) with t(4;11). Duplication (1q) was the most prevalent structural abnormality in c-HeH (hyperdiploidy without recurrent translocations) (n = 12,15%). Children ≥10 years or presenting with white blood cells (WBC) ≥50 × 10 /L) had an inferior 3 year-overall survival as compared to younger children (P = .003), and to lower WBC (P = .02). Duplication (1q) was an independent adverse parameter on the disease-free survival (DFS) of c-HeH patients (P = .004).
Older age and WBC ≥ 50 × 10 /L were adverse prognostic factors. Duplication (1q) is correlated with lower DFS in c-HeH patients. t-HeH has distinct patterns of chromosomal gain.
高倍体（HeH）结构异常的作用一直存在争议，很少有研究涉及伴有 HeH 的反复易位（t-HeH）。我们旨在对儿科 B 急性淋巴细胞白血病（B-ALL）患者中具有 HeH 的病例进行特征描述，特别强调包括 t-HeH 在内的结构异常。
本研究纳入了 2016 年 1 月至 2019 年 4 月期间在开罗大学国家癌症研究所儿科肿瘤科就诊的所有 HeH 患儿。
在 480 例初诊 B-ALL 儿科患者中，有 80 例（16.7%）存在 HeH，中位年龄为 5 岁。在 480 例患者中，有 17 例（3.5%）存在 t-HeH：9 例（1.9%）存在 t（12；21），7 例（1.5%）存在 t（9；22），1 例（0.2%）存在 t（4；11）。在 c-HeH（无反复易位的高倍体）中，最常见的结构异常是 1q 重复（n=12，15%）。与年龄较小的患儿相比，年龄≥10 岁或白细胞计数（WBC）≥50×10 /L 的患儿 3 年总生存率较差（P=0.003），与较低的 WBC 相比（P=0.02）。1q 重复是 c-HeH 患者无病生存（DFS）的独立不良参数（P=0.004）。
年龄较大和 WBC≥50×10 /L 是不良预后因素。1q 重复与 c-HeH 患者的较低 DFS 相关。t-HeH 具有独特的染色体增益模式。
