Primer İmmün Yetmezlik ve Malignite Birlikteliği: İki Olgu Sunumu

Abstract

Primer immun yetmezlikler tekrarlayan enfeksiyon dışında malignitelere yatkınlık oluşturan hastalıklardır. Primer immun yetmezlikli hastalarda bazı bilinmeyen mekanizmalar ve kusurlu DNA onarım süreçleri nedeniyle oluşan genomik instabilite, kanser riskinde artışa neden olur ve bu hastalarda genel olarak kanser gelişme riskinin % 4,7- 5,7 arasında değiştiği düşünülmektedir. Primer immun yetmezlikli hastaların enfeksiyonlardan sonra en sık ölüm nedeni malignitelerdir. Bu makalede sunmuş olduğumuz ilk olgumuz öksürük şikâyetiyle hastaneye başvuran ve takibinde Burkitt Lenfoma tanısı alan, bu aşamada tetkiklerinde immünglobülinlerinde düşüklük saptanarak lenfoma tanısına eş zamanlı olarak yaygın değişken immün yetmezlik tanısı eklenen hastamızdır. İkinci olgumuz primer immun yetmezlik nedeniyle takipliyken akut lenfoblastik lösemi gelişen hastamızdır. Burada primer immun yetmezlikli hastaların olağanın dışında ilk başvurusunun maligniteyle beraber de olabileceğine dikkat çekmeyi ve primer immun yetmezlikli hasta takip eden klinisyenlerin malignite gelişimine karşı farkındalıklarını arttırmayı amaçladık.

Keywords

• Akut Lenfoblastik Lösemi
• Burkitt Lenfoma
• Yaygın Değişken İmmun Yetmezlik

Primary Immunodeficiency and Malignant Diseases: Two Case Report

Abstract

Primary immunodeficiencies are diseases that predispose to malignancies other than recurrent infections. Genomic instability due to some unknown mechanisms and defective DNA repair processes in patients with primary immunodeficiency causes an increase in cancer risk, and it is thought that the risk of developing cancer in these patients varies between 4.7-5.7%. After infections, the most common cause of death in patients with primary immunodeficiency is malignancies. In this article, our first case is the patient who applied to the hospital with the complaint of cough and was diagnosed with Burkitt's lymphoma in the follow-up, and at this stage, low immunoglobulins were detected in the tests and the diagnosis of lymphoma was simultaneously diagnosed as common variable immunodeficiency. Our second case is our patient who developed acute lymphoblastic leukemia while being followed up due to primary immunodeficiency. Here, we aimed to draw attention to the fact that the unusual first presentation of patients with primary immunodeficiency may be associated with malignancy and to increase the awareness of clinicians following patients with primary immunodeficiency about the development of malignancy.

Keywords

• Acute Lymphoblastic Leukemia
• Burkitt Lymphoma
• Common Variable Immunodeficiency

References

1. 1. Kebudi R, Kiykim A, Sahin MK. Primary Immunodeficiency and Cancer in Children; A Review of the Literatur Current Pediatric Reviews, 2019, 15, 245-250. doi:10.2174/1573396315666190917154058.
2. 2. Rezaei N, Hedayat M, Aghamohammadi A, Nichols KE. Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies. J Allergy Clin Immunol. 2011; 127:1329-41. doi: 10.1016/j.jaci.2011.02.047
3. 3. Riaz IB, Faridi W, Patnaik MM, Abraham RS. A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity). Front Immunol. 2019 Apr 16; 10:777. doi: 10.3389/fimmu.2019.00777
4. 4. Kuzu I. Primer immün yetmezliklerde polimorfik poliklonal ve monomorfik monoklonal lenfoid proliferasyonlar ile lenfoma arasında ayırıcı tanı. Metin A, editör. Primer İmmün Yetmezlik ve Malignite. 1. Baskı. Ankara: Türkiye Klinikleri; 2021. p.66-71.
5. 5. Van Krieken Jh, Oncıu M, Elenitoba-Johnson KSJ, Jaffe ES. Immunodeficiency-associated lymphoproliferative disorders. In Steven h. Swerdlow, Elias Campo, nancy Lee harris, et al., eds. Who Classification of Tumours of haematopoietic and Lymphoid Tissues. 4th ed. International Agency for Research on Cancer; 2017:443-64.
6. 6. Özdemir Ö, Orhan MF, Koçer GB et al, Development of Hodgkin Lymphoma in a Patient with Common Variable Immunodeficiency, İstanbul Med J 2019; 20(6): 583-4. doi: 10.4274/imj.galenos.2018.46514
7. 7. Charlotte Cunningham-Rundles, Common variable immune deficiency: case studies, Blood. 2019;134(21):1787-1795. doi: 10.1182/blood.2019002062.