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

Elif Habibe Aktekin; Bermal Hasbay; Nalan Yazıcı; Nazım Emrah Koçer; Ayşe Erbay

Makale detayları

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

Yazarlar:

Elif Habibe Aktekin | Bermal Hasbay | Nalan Yazıcı | Nazım Emrah Koçer | Ayşe Erbay

Yayıncı:

Harran University

Ana Başlıklar:

Çocuk Hematolojisi ve Onkolojisi

Dergi:

Harran Üniversitesi Tıp Fakültesi Dergisi Vol.22 Issue 3, pp.426-434

Belge Tipi:

Makale

Yayın Tarihi:

9/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001352403

pISSN:

1304-9623

Anahtar kelimeler:

Özet:

 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 andor severe infections previously. Nine patients 75 were diagnosed with IEI after malignancy. Lymphoma was the leading lymphopro-liferative disorder n10 and most of them were diffuse large B-cell lymphoma n4. Lymphoid nodal involvement was the prominent location n9, 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.

 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 andor severe infections previously. Nine patients 75 were diagnosed with IEI after malignancy. Lymphoma was the leading lymphopro-liferative disorder n10 and most of them were diffuse large B-cell lymphoma n4. Lymphoid nodal involvement was the prominent location n9, 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.

 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 andor severe infections previously. Nine patients 75 were diagnosed with IEI after malignancy. Lymphoma was the leading lymphopro-liferative disorder n10 and most of them were diffuse large B-cell lymphoma n4. Lymphoid nodal involvement was the prominent location n9, 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.

 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 veveya şiddetli enfeksiyon öyküsü olmadan DOCK8 bozukluğu tanısı konuldu. Dokuz hastaya 75 malignite tanısından sonra KIY tanısı kondu. Lenfoma en sık saptanan lenfoproliferatif bozukluk n10 olup çoğu diffüz büyük B hücreli lenfomaydı n4. Lenfoid nodal tutulum en sık tümör yerleşim yeri n9 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.

Makale detayları

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

Yazarlar:

Elif Habibe Aktekin | Bermal Hasbay | Nalan Yazıcı | Nazım Emrah Koçer | Ayşe Erbay

Yayıncı:

Harran University

Ana Başlıklar:

Çocuk Hematolojisi ve Onkolojisi

Dergi:

Harran Üniversitesi Tıp Fakültesi Dergisi Vol.22 Issue 3, pp.426-434

Belge Tipi:

Makale

Yayın Tarihi:

9/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001352403

pISSN:

1304-9623

Ebstein-Barr virus

inborn errors of immunity

DOCK8 disorder

lymphoproliferative disorder

malignancyEbstein-Barr virüs

konjenital immun yetmezlikler

DOCK8 bozukluğu

lenfoproliferatif hastalıklar

malignite

Sayı

Makale detayları

Yazarlar: Elif Habibe Aktekin | Bermal Hasbay | Nalan Yazıcı | Nazım Emrah Koçer | Ayşe Erbay

Yayıncı: Harran University

Ana Başlıklar: Çocuk Hematolojisi ve Onkolojisi

Dergi: Harran Üniversitesi Tıp Fakültesi Dergisi Vol.22 Issue 3, pp.426-434

Belge Tipi: Makale

Yayın Tarihi: 9/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001352403

pISSN: 1304-9623

Sayı

Yazarlar:

Elif Habibe Aktekin | Bermal Hasbay | Nalan Yazıcı | Nazım Emrah Koçer | Ayşe Erbay

Yayıncı:

Harran University

Ana Başlıklar:

Çocuk Hematolojisi ve Onkolojisi

Dergi:

Harran Üniversitesi Tıp Fakültesi Dergisi Vol.22 Issue 3, pp.426-434

Belge Tipi:

Makale

Yayın Tarihi:

9/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001352403

pISSN:

1304-9623