The risk of carcinogenesis in primary immunodeficiencies (PID) is increased by 25% compared to the general population. The type and incidence of cancer manifestations correlate with PID form, patients age and spectrum of certain type viral infectious.
During 25 years we observed 785 patients with different forms of PID.
Oncology diseases developer in 37 cases (5%). The main frequency of cancer was in patients with NBS1 – 20 of 41 (51%): 15 –ALL/lymphoma, 2 – AML, 1-embrional rabdomyosarcoma, 1-Hodgkin disease, 1-CNS-cancer. Six patients received standard course of chemotherapy for malignancy type they had previous NBS1 diagnosis. All of them had infectious complications, prolonged periods of cytopenias. In all patients diagnosed as NBS1 before malignancies development was used reduced doses of MTX and ciclophosphamide; rituximab in cases B-cell lyphomas/ALL with good effect.
Malignant diseases developed in 9 of 84 patients with ataxia-teleangiectasia (10,7%): 3 - Hodgkin disease with relapses and death, 4 – ALL/lymphoma, 1- CNS-glioma with death, 1 – stomach cancer. In 4 cases parents refused from treatment.
B-cell lymphoma observed in 5 of 12 boys with XLP (36%). Remission > 1 year in 4, relapse after 3 years remission -1.
B-cell lymphoma developed in 2 and Hodgkin disease in 1 of 51 WAS patients (5,8%). Patients with lymphomas had prolong cytopenias after chemotherapy.
Severe T-cell lymphoma with death developed in 1 of 76 with CVID (1,3%).
Our data showed the highest frequency of malignancies in NBS1 (51%), main common types of malignancy were ALL/lymphoma and Hodgkin disease – 88%.