Ayca Kiykim, Turkey

Istanbul Cerrahpasa University Pediatric Allergy and Clinical Immunology

Presenter of 1 Presentation

Poster Display Malignancy and PID

CANCER OR NOT CANCER, THAT IS THE QUESTION

Lecture Time
10:51 - 10:52
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
54
Presentation Topic
Malignancy and PID

Abstract

Background and Aims

Background: Primary immune deficiencies (PID) are disorders predisposing individuals to recurrent infections, allergy, autoimmunity and malignancy. Malignancies are seen more frequently in primary immune deficient patients than the general population. In daily practice the diagnosis and treatment of malignancy in PID are challenging. Due to the complexity of the disease pathophysiology, sometimes the clear cut-off between benign and malignant differentiation may not be possible, requiring special expertise for diagnosis.

Aim: We aimed to describe our PID patients thought to develop cancer which finally concluded as non-neoplastic lymphoproliferation.

Methods

Methods: The demographic and clinical features of the patients were recorded retrospectively.

Results

Results: Five patients (female:3, male:2) were misdiagnosed at first evaluation. The PID diagnoses included EBV related lymphoproliferation (n=1), PIK3R1 deficiency (n=1), Nijmegen-Breakage Syndrome (NBS) (n=1), Ataxia telangiectasia (n=1) and combined immune deficiency with unknown genetic background (n=1). All patients first had a diagnosis of non-Hodgkin lymphoma, two patients received one course chemotherapy. Following the diagnosis of non-malign lymphoproliferation one patient with EBV related PID showed excellent response to rituximab. With sirolimus therapy partial response was achieved in NBS patient who had atypical T cell proliferation in liver.

Conclusions

Conclusion: The lymphoma diagnosis is challenging in PID patients. This could be related to the complexity of primary disease, which leads in nature for abnormal cell proliferation and infiltration or due to lymphoma classification, which always is not harmonious between histopathologists. To avoid these discrepancies, collaboration among clinician, histopathologist and molecular biologist will be beneficial.

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