297 Lymphoma or ALPS?. (11th October 2021)

• Record Type: Journal Article
• Authors: Koç, Cansu; Kaçar, Gonca; Çınar, Simge Özel; Ocak, Suheyla; Burtecene, Nihan; Celkan, Tiraje
• Is Part Of: Archives of disease in childhood. Volume 106(2021)Supplement 2
• Page Start: A125
• Page End: A126
• Publication Date: 2021-10-11
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2021-europaediatrics.297
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : ALPS is a rare disease characterized by chronic, non-malignant lymphoproliferation and autoimmunity. The axis of apoptosis is impaired in immunoregulation by mutation in Fas Ligand and Caspase 8 genes. Lymphadenopathy, hepatosplenomegaly, Direct Coomb's (+), autoimmune hemolytic anemia, ITP are the most common clinical presentations.Hypergammaglobulinemia is diagnostic of increased CD4-CD8-T cells in peripheral blood. Often it is susceptible to B Cell Lymphoma. In our presentation, we wanted to draw attention to this issue by presenting two different cases, one in the differential diagnosis of lymphoma and the other in the diagnosis of ALPS after long-term lymphoma treatment. A 6-year-old girl presented in April 2012 with complaints of swelling and night sweats on the left side of the neck. On physical examination, hepatosplenomegaly was absent, and multiple lenadenopathies were detected in the left cervical chain. No agent was detected in terms of infectious pathologies. There were no pathological cells in bone marrow aspiration performed for malignant diseases, but multiple lymph nodes with cervical, supraclavicular and intra-abdominal hypermetabolic activity were detected in PET imaging. She was diagnosed as Mixed type Hodgkin's Lymphoma by supraclavicular lymph node excision. After ABVD and COPP treatment, radiotherapy was applied to the abdomen, neck and mediastinum. While regression was seen in PET imaging after treatment, the disease was progressed by bone marrow activation and lung parenchymal involvement.Autologous Bone Marrow Transplantation was performed in August 2014, but recurrence was detected for the second time in January 2015. In the follow-up, although the treatment of Brentuximab, Gemcitabine, Paclitaxel and Nivolumab were applied, the disease progressed. Double T Negative Cells 5.3% were detected in immunophenotyping, which was sent for possible immune deficiencies. The history of lymphadenopathy, the predisposition of B lymphoma, the rate of DNT above 2.5%, the presence of a consanguineous marriage between parents and the rate of DNT 11.6% of the sisters who had no complaints, suggested the possibility of ALPS (Autoimmune Lymphoproliferative Syndrome) in the patient. The patient, whose m-Tor inhibitor Sirolimus treatment was started, has been on follow-up for 3 years. Genetic tests of the patient were sent. A three-year-old male patient was diagnosed as Acute ITP by detecting thrombocytopenia in his examinations with the appearance of bruises on his body after infection. No pathology was observed in bone marrow aspiration. The response to IVIG and pulse steroid treatments was not good. Due to splenomegaly, coombs positive hemolytic anemia and thrombocytopenia continuing in the follow-up of the patient, DNT cell count was found 7.9% considering ALPS. Genetic tests of the patient were sent. Sirolimus treatment was started for the patient who did not respond well to MMF and oral steroid.