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Multicenter Study
. 2020 Jul;31(5):528-536.
doi: 10.1111/pai.13231. Epub 2020 Mar 9.

The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study

Sukru Cekic  1 , Ayse Metin  2 , Caner Aytekin  3 , Neslihan Edeer Karaca  4 , Safa Baris  5 , Yasin Karali  1 , Ayca Kiykim  6 , Elif Karakoc Aydıner  5 , Ahmet Ozen  5 , Torehan Aslan  7 , Betul Sevinir  8 , Guzide Aksu  4 , Necil Kutukculer  4 , Sara Sebnem Kilic  1
Affiliations
Multicenter Study

The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study

Sukru Cekic et al. Pediatr Allergy Immunol. 2020 Jul.

Abstract

Background: There are no data regarding the prevalence of malignancies in patients with primary immunodeficiency (PID) in Turkey. Along with the prevalence of malignancy, we aimed to present the types of malignancy and define the underlying immune deficiency of the patients.

Method: Between the years 1992 and 2018, from five tertiary immunology clinics, fifty-nine patients with PID who developed malignancy were included. All patients were evaluated for demographics, clinical features, and prognosis.

Results: The prevalence of malignancy in our cohort was detected as 0.9% (59/6392). The male-to-female ratio was 1.8 (38/21), and the median age of patients was 14 years (range: 1.5-51). The median age at diagnosis of malignancy was 10 years (range: 1.5-51). Ataxia-telangiectasia was the most frequent PID in patients with malignancy (n = 19, 32.2%), and non-Hodgkin lymphoma was the most common malignancy (n = 32, 51.6%). The rate of malignancy in DOCK8 deficiency (n = 7/43, 16.3%) was higher than AT (n = 19/193, 9.8%), Wiskott-Aldrich syndrome (n = 2/22, 9.1%), and common variable immunodeficiency (n = 11/205, 5.4%). EBV quantitative PCR was positive in 16 out of 53 patients (30.2%). Three patients had secondary malignancies. Remission was achieved in 26 patients (44.1%). However, 31 patients (52.5%) died. Two patients (3.4%) are still on chemotherapy.

Conclusion: This study is the largest cohort investigating the association of malignancy in patients with PID in Turkey. While lymphoid malignancies were the most common malignancy and observed more frequently in AT patients, the risk for malignancy was higher in patients with DOCK8 deficiency compared to AT.

Keywords: DOCK8 deficiency; ataxia-telangiectasia; cancer; lymphoma; malignancy; non-Hodgkin lymphoma; primary immunodeficiency.

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References

REFERENCES

    1. Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol. 2018;38:129-143.
    1. Kilic SS, Ozel M, Hafizoglu D, Karaca NE, Aksu G, Kutukculer N. The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey-two centers study. J Clin Immunol. 2013;33(1):74-83.
    1. Mueller BU, Pizzo PA. Cancer in children with primary or secondary immunodeficiencies. J Pediatr. 1995;126:1-10.
    1. Filipovich AH, Mathur A, Kamat D, Shapiro RS. Primary immunodeficiencies: genetic risk factors for lymphoma. Cancer Res. 1992;52:5465-5467.
    1. Mayor PC, Eng KH, Singel KL, et al. Cancer in primary immunodeficiency diseases: cancer incidence in the United States Immune Deficiency Network Registry. J Allergy Clin Immunol. 2018;141(3):1028-1035.

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