Background: Several PID have higher risk of neoplasia compared to the general
population. The incidence of neoplasia depends on the specific PID. After infections,
neoplasia is the second cause of death.
Aim: Review all PID patients followed at CHUP between 1998 and 2018, focusing on
the development of benign or malignant neoplasms.
Methods: Retrospective analysis based on clinical and laboratory records.
Results: From 517 PID patients identified, 24 (8 males and 16 females) had neoplasia
(5%), 8 of them at pediatric age (33% of all patients with neoplasm). For 65 patients
with CVID, 15 (23%) developed neoplasia: 9 non-Hodgkin lymphoma (NHL), 4 gastro-
intestinal malignancies, 2 uterine carcinoma and 1 CNS tumor; 1 patient had gastric and
colorectal cancer. Neoplasms in patients with other PID were: NLH (1 patient with XL-
Lymphoproliferative Disease, 1 with Nijmegen breakage syndrome, 1 with Hyper-IgE
Syndrome (HIES), and 1 with MST deficiency); thymoma (1 patient with Good
Syndrome); ependymoma (1 patient with XL-CGD); vulvar papilloma and carcinoma (1
patient with HIES); vulvar papilloma (1 patient with GATA2 deficiency); and benign
neoplasia of the maxilla (1 patient with MyD88 deficiency). Eight patients died, 5 in
consequence of the neoplasms, 2 CVID patients from respiratory insufficiency and 1
patient with GATA2 deficiency, from Herpes simplex encephalitis.
Conclusion: The incidence of neoplasia in PID patients in our Center (5%) is similar to
other cohorts (4-25%). Cancer surveillance in PID patients is mandatory, allowing an
early diagnosis and adequate treatment to achieve better outcomes.