Patients with some forms of primary immunodeficiency (PID) have a markedly increased risk of cancer as compared to the healthy population. The aim of this study was to assess the spectrum of genes and type of malignancies in PID patients in Belarus.
We analyzed the malignancy type, age of onset and genetic bases of PIDs with malignancy onset.
36 PID patients from 35 families of Belarus origin were identified in the National PID registry, 55.5% (n=20) males and 44.5% (n=16) females. Age of malignancy diagnosis ranged 6 m.–21,5 yrs (median–6,5yrs). Fourteen patients (39%), of median age 11.8 years, remained alive at the time of analysis, six out of 14 alive after HSCT. Non-Hodgkin's lymphomas predominate, accounting for 56% of cases (n=20), 28% (n=10) patients experienced acute leukemia (n=3 T-ALL, n=3 AML, n=1 bi-phenotypic), 11% (n=4) patients had Hodgkin lymphoma, n=1 myelodysplastic syndrome, n=1 rhabdomyosarcoma.
All patients had PID diagnosis according strong immunologic abnormalities in cellular and/or humoral immunity. 23 out 36 (64%) had definite genetic diagnosis. The most common genetic abnormality was Nijmegen syndrome (NBS1 Slavic mutation) 39% (n=9), followed by ataxia-telangiectasia 17% (n=4) and one patient with BLM (Bloom syndrome), SH2D1A (XLP I), DNMT3B (ICF), WAS, FOXN1, TTC37A, UNC13D, MYSM1, ELA (Neutropenia), CYBB (X-CGD after HSCT).
In Belarus PIDs more often associated with cancer, include Nijmegen breakage syndrome, ataxia-telangiectasia and combined T/B deficiency.