546 Malignancies Associated to Primary Immunodeficiencies. A 40 Year Review

BACKGROUND: Cancer has been cited as the second leading cause of death after infection in children and adults with primary immunodeficiencies (PIDs). There seems to be a complex relationship between PIDs, viral infections to which are susceptible, and the development of cancer. Defective immunosurveillance most markedly in cells with strong antigenic potential that have undergone viral induction is a major factor, as support for this the most common cancer subtype is lymphoma. Some estimates suggest that more than 20% of carcinomas in patients with PID are infection induced, Epstein Barr virus being particularly well established cofactor. The risk of cancer in patients with PID is estimated between 4 to 25%, although could be higher in some subtypes of PID. The PIDs most commonly associated to cancer are Ataxia Telangiectasia, common variable immunodeficiency, Wiscott-Aldrich syndrome, severe combined immunodeficiency, and selective Iga deficiency. OBJECTIVE: We aimed to determine the prevalence of cancer in children with PIDs, in our hospital, and to determine clinical features and risk factors. METHODS: An internal register was consulted to identify cancer associated in patients with PIDs. The clinical files were reviewed for diagnostic workup, age of presentation, risk factors and outcome. RESULTS: We identified a prevalence of 1.2% (3 out of 250 patients) within a period of 40 years (1970–2010), with cancer diagnosis in the context of PID. PIDs subtype included, 2 patients with ataxia telangiectasia, both dead, one developed lynfoblastic leukemia and the other patient developed diffuse B cell lymphoma. Third patient with X linked lynphoproliferative syndrome (SAP mutation), with positive family history, developed burkitt lymphoma, still alive. DISCUSSION: The overall prevalence of cancer is relatively low to moderate in PID syndromes. Ataxia Telangiectasia continues to be the most highly associated cancer PID. Regular follow-up visits are justified for surveillance for complications. The prognosis in patients with cancer and immunodeficiency is worse than immunocompetent individuals.