E-ISSN: 1308-5263
Autoimmune Lymphoproliferative Syndrome in Children with Nonmalignant Organomegaly, Chronic Immune Cytopenia, and Newly Diagnosed Lymphoma [Turk J Hematol]
Turk J Hematol. 2021; 38(2): 145-150 | DOI: 10.4274/tjh.galenos.2020.2020.0618  

Autoimmune Lymphoproliferative Syndrome in Children with Nonmalignant Organomegaly, Chronic Immune Cytopenia, and Newly Diagnosed Lymphoma

Zühre Kaya1, Melek Işık1, Nihan Oruklu2, Serap Kirkiz1, Emin Ümit Bağrıaçık2, Luis M. Allende3, María J. Díaz-madroñero3, Raquel Ruiz-García3, Faruk Güçlü Pınarlı4, Pınar Göçün Uyar5, Ülker Koçak1
1Gazi University Faculty of Medicine, Department of Pediatric Hematology, Ankara, Turkey
2Gazi University Faculty of Medicine, Department of Immunology and Life Science Research Center, Ankara, Turkey
3Immunology Department and Research Institute i+12, Hospital Universitario 12 de Octubre, Madrid, Spain
4Gazi University Faculty of Medicine, Department of Pediatric Oncology, Ankara, Turkey
5Gazi University Faculty of Medicine, Department of Pathology, Ankara, Turkey

This study investigated the frequency of and predictive factors for autoimmune lymphoproliferative syndrome (ALPS) in children with lymphoma, chronic immune cytopenia, and nonmalignant organomegaly. Thirty-four children with suspected ALPS (n=13, lymphoma; n=12, immune cytopenia; n=9, nonmalignant organomegaly) were included. Double-negative T-cells, lymphocyte apoptosis, and genetic findings were analyzed. Patients were stratified into two groups as proven/probable ALPS and clinically suspected patients according to the ALPS diagnostic criteria. Of the 34 patients, 18 (53%) were diagnosed with proven/probable ALPS. One patient had a mutation (c.652-2A>C) in the FAS gene. The remaining 16 (47%) patients were defined as clinically suspected patients. Predictive factors for ALPS were anemia and thrombocytopenia in patients with lymphoma, splenomegaly and lymphadenopathy in patients with immune cytopenia, and young age in patients with nonmalignant organomegaly. ALPS may not be rare in certain risk groups. Our study indicates that screening for ALPS may be useful in children having lymphoma with cytopenia at diagnosis, in those having nonmalignant organomegaly with immune cytopenia, and in those having chronic immune thrombocytopenic purpura or autoimmune hemolytic anemia with organomegaly developing during follow-up.

Keywords: Autoimmune lymphoproliferative syndrome, Immune cytopenia, Lymphoma


Malign Olmayan Organomegali, Kronik İmmün Sitopeni ve Yeni Tanı Lenfomalı Çocuklarda Otoimmün Lenfoproliferatif Sendrom

Zühre Kaya1, Melek Işık1, Nihan Oruklu2, Serap Kirkiz1, Emin Ümit Bağrıaçık2, Luis M. Allende3, María J. Díaz-madroñero3, Raquel Ruiz-García3, Faruk Güçlü Pınarlı4, Pınar Göçün Uyar5, Ülker Koçak1
1Gazi University Faculty of Medicine, Department of Pediatric Hematology, Ankara, Turkey
2Gazi University Faculty of Medicine, Department of Immunology and Life Science Research Center, Ankara, Turkey
3Immunology Department and Research Institute i+12, Hospital Universitario 12 de Octubre, Madrid, Spain
4Gazi University Faculty of Medicine, Department of Pediatric Oncology, Ankara, Turkey
5Gazi University Faculty of Medicine, Department of Pathology, Ankara, Turkey

Bu çalışmanın amacı malign olmayan organomegali, kronik immün sitopeni ve lenfomalı çocuklarda otoimmün lenfoproliferatif sendrom (OILS) sıklığını ve belirleyici faktörlerini araştırmaktır. Bu çalışmaya OILS şüpheli 34 hasta dahil edildi (13 hasta lenfoma, 5 hasta otoimmün hemolitik anemi, 7 hasta kronik immün trombositopenik purpura ve 9 hasta malign olmayan organomegali). Çift negatif T-hücreler, lenfosit apoptozis ve genetik bulgular analiz edildi. Hastalar OILS tanı kriterlerine göre kesin ve yüksek olasılıklı OILS’li hastalar ve klinik şüpheli OILS’li hastalar olarak iki gruba ayrıldı. Çalışmaya dahil edilen 34 hastanın, 18’i (%53) kesin ve yüksek olasılıklı OILS’di. Malign olmayan organomegalisi olan bir çocukta FAS geninde mutasyon (c.652-2A>C) saptandı. Klinik şüpheli hasta 16 (%47) idi. OILS için belirleyici faktörler; lenfomalı hastalarda anemi ve trombositopeni, kronik immün sitopenili hastalarda splenomegali ve lenfadenopati; malign olmayan organomegalisi olan hastalarda genç yaş idi. OILS belirli risk gruplarında nadir olmayabilir. Çalışmamız, ilk tanıda sitopenisi olan lenfomalı çocuklarda, immün sitopenisi olan nonmalign organomegalili çocuklarda ve izlem sırasında organomegalisi gelişen kronik immün trombositopenik purpura ve otoimmün hemolitik anemili çocuklarda OILS taramasının yararlı olabileceğine işaret etmektedir.

Anahtar Kelimeler: lenfoproliferatif sendrom, İmmün sitopeni, Lenfoma


Zühre Kaya, Melek Işık, Nihan Oruklu, Serap Kirkiz, Emin Ümit Bağrıaçık, Luis M. Allende, María J. Díaz-madroñero, Raquel Ruiz-García, Faruk Güçlü Pınarlı, Pınar Göçün Uyar, Ülker Koçak. Autoimmune Lymphoproliferative Syndrome in Children with Nonmalignant Organomegaly, Chronic Immune Cytopenia, and Newly Diagnosed Lymphoma. Turk J Hematol. 2021; 38(2): 145-150

Corresponding Author: Zühre Kaya


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