Background and Aims

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

Methods: Retrospective analysis based on clinical and laboratory records.

Results

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.

Conclusions

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.