Childhood Lymphoproliferative Disorders with Inborn Errors of Immunity from the Perspective of Oncology

Öz

Background: Malignancy is an important issue for immunodeficiency patients and management could be challenging. This study aims to review inborn errors of immunity (IEI) patients with lymphoprolife-rative disorders. Materials and Methods: Age at diagnosis, gender, type of immunodeficiency, tumor type and loca-tion, Ebstein-Barr virus (EBV) status, comorbidity, treatment schemes for malignancy, and follow-up time were evaluated in 12 patients between 2007-2023, retrospectively. Results: Ten of twelve patients (83,3%) were male. Median age was 8 years. In terms of immunodefi-ciency type, 11 had a definitive diagnosis of IEI, 5 of which had DNA repair defects. One had been diagnosed with DOCK8 disorder without any history of frequent and/or severe infections previously. Nine patients (75%) were diagnosed with IEI after malignancy. Lymphoma was the leading lymphopro-liferative disorder (n=10) and most of them were diffuse large B-cell lymphoma (n=4). Lymphoid nodal involvement was the prominent location (n=9), but primary central nervous system and gastric mucosal involvement were unusual. Three patients were EBV positive. All patients were treated with several chemotherapy regimens. Median follow-up time was 32,6 months. Seven patients (58.3%) died because of infection or malignancy or other causes. All other patients are still under follow-up with disease-free. The 5-year event-free survival was 38.9% and overall survival was 51.9%. Conclusions: All patients with IEI should be monitored for malignancy. Furthermore patients with unusual findings of malignancy shouldalso be examined for IEI.

Anahtar Kelimeler

• Ebstein-Barr virus
• inborn errors of immunity
• DOCK8 disorder
• lymphoproliferative disorder
• malignancy

Onkoloji Perspektifinden Konjenital İmmün Yetmezliklerle Birlikteliği Olan Çocukluk Çağı Lenfoproliferatif Bozuklukları

Öz

Amaç: Malignite, immün yetmezlik hastaları için önemli bir sorundur ve yönetimi zor olabilir. Bu çalışma, lenfoproliferatif bozuklukları olan konjenital immun yetmezlik (KIY) hastalarını incelemeyi amaçlamaktadır. Materyal ve Metod: 2007-2023 yılları arasında 12 hastada tanı yaşı, cinsiyet, immün yetmezlik türü, tümör çeşidi ve yeri, Ebstein-Barr virüs (EBV) durumu, eşlik eden hastalıklar, malignite için tedavi şemaları ve takip süresi retrospektif olarak değerlendirildi. Bulgular: On iki hastanın on tanesi (%83,3) erkekti. Ortanca yaş 8 idi. İmmün yetmezlik türü açısından 11 hastaya kesin KIY tanısı kondu, bunların beşinde DNA onarım kusurları vardı. Birine daha önce sık ve/veya şiddetli enfeksiyon öyküsü olmadan DOCK8 bozukluğu tanısı konuldu. Dokuz hastaya (%75) malignite tanısından sonra KIY tanısı kondu. Lenfoma en sık saptanan lenfoproliferatif bozukluk (n=10) olup çoğu diffüz büyük B hücreli lenfomaydı (n=4). Lenfoid nodal tutulum en sık tümör yerleşim yeri (n=9) olmakla birlikte primer merkezi sinir sistemi ve gastrik mukozal tutulumlar alışılmışın dışında idi. Üç hastada EBV pozitif saptandı. Tüm hastalara çeşitli kemoterapi rejimleri uygulandı. Ortanca takip süresi 32,6 aydır. Yedi hasta (%58,3) enfeksiyon veya malignite veya diğer nedenlerden dolayı öldü. Diğer tüm hastalar hala hastalıksız olarak takip altındadır. 5 yıllık olaysız sağkalım %38,9 ve genel sağkalım %51,9 idi. Sonuç: Konjenital immun yetmezlik tanılı tüm hastalar malignite gelişimi açısından izlenmelidir. Ayrıca, beklenenden farklı malignite özellikleri sergileyen hastalar da immun yetmezlikler açısından incelenmelidir.

Anahtar Kelimeler

• Ebstein-Barr virüs
• konjenital immun yetmezlikler
• DOCK8 bozukluğu
• lenfoproliferatif hastalıklar
• malignite

Kaynakça

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