Aim: We aimed to evaluate the influence of genetic polymorphisms involved in deferasirox metabolism and transport on its pharmacokinetics and treatment toxicity, in a cohort of β-thalassaemic children. Patients & methods: Drug plasma concentrations were measured by a HPLC-UV method. Allelic discrimination for UGT1A1, UGT1A3, CYP1A1, CYP1A2, CYP2D6, MRP2 and BCRP1 polymorphisms was performed by real-time PCR. Results: CYP1A1 rs2606345AA influenced Ctrough (p = 0.001) and t1/2 (p = 0.042), CYP1A1 rs4646903TC/CC (p = 0.005) and BCRP1 rs2231142GA/AA (p = 0.005) influenced Tmax and CYP2D6 rs1135840CG/GG influenced Cmax (p = 0.044). UGT1A1 rs887829TT (p = 0.002) and CYP1A2 rs762551CC (p = 0.019) resulted as predictive factor of ferritin levels and CYP1A1 rs2606345CA/AA (p = 0.021) and CYP1A2 rs762551AC/CC (p = 0.027) of liver iron concentration. Conclusion: Our data suggest the usefulness of deferasirox pharmacogenetics in pediatric treatment optimization.

Hodgkin’s lymphoma (HL) is one of the neoplasms with the best prognosis in children, adolescents and young adults, but sufferers are burdened by the possibility of developing adverse effects such as Bone Ischemic Lesions (BILs) which are lesions of the bone caused by the loss of/reduction in blood flow. The main goal of this retrospective study was to evaluate the role of [¹⁸F]FDG-PET-MR in the early detection of BILs in a single-center cohort of uniformly treated pediatric HL patients. BILs were assessed through PET-MR images as the appearance of medullary lesion surrounded by a serpiginous, tortuous border. From 2017 to 2022, 10/53 (18.9%) HL patients developed BILs which were mostly (8/10 patients) multifocal. Overall, 30 lesions were identified in the 10 asymptomatic patients, all with the above-mentioned features at MR and with very low [¹⁸F]FDG uptake. BILs were incidentally detected during HL therapy (n = 6) and follow-up (n = 4), especially in the long bones (66.7%). No factors correlated with the occurrence of BIL were identified. No patients developed complications. PET-MR is a sensitive combined-imaging technique for detecting BILs that are asymptomatic and self-limiting micro-ischemic lesions. BILs can be monitored by clinical follow-up alone both during and after therapy.