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Background 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. Patients and methods 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. Results 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 × 109/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). Conclusions Older age and WBC ≥ 50 × 109/L were adverse prognostic factors. Duplication (1q) is correlated with lower DFS in c‐HeH patients. t‐HeH has distinct patterns of chromosomal gain.

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Graft-versus-host disease (GVHD) remains one of the major complications of hematopoietic stem cell transplantation (HSCT). Several etiological factors were investigated. Among these, vitamin D and hence its receptor (VDR) gene polymorphisms have gained much interest; however, the results are still controversial. Using PCR-RFLP, we genotyped VDR polymorphisms FokI (rs10735810), ApaI (rs7975232), and Taq1 (rs731236) in 80 patient/donor pairs according to DNA availability. No association was encountered between VDR polymorphisms and GVHD. Neither was there any impact on survival. Only grade II-IV acute GVHD was associated with inferior overall (p = .01), but not disease-free survival. The controversy between our results and the literature may be attributed to marked variability in the relative distribution of VDR genotypes in different populations. Also different environmental factors, including exposure to sun, may ensure vitamin D sufficiency nullifying the impact of VDR polymorphisms.