ABSTRACT
BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is a therapeutic approach known for its high success rates in treating various hematologic malignancies, hemoglobinopathies, immune deficiencies, and other disorders. Notably, pediatric HSCT commenced in Syria in 2021 amidst the prevailing crisis. This study aims to assess the demographic and clinical profiles of pediatric patients who underwent stem cell transplantation and to analyze treatment outcomes at Syria's inaugural pediatric HSCT center. METHODS: This study is a single-center retrospective analysis of 25 pediatric patients who underwent HSCT underage of 14 years in the National Stem Cell Center (HAYAT) in Damascus within the period 2021-2023. The databases were created based on data that were collected from patient medical records. RESULTS: In autologous patients, transplant-related mortality (TRM) was 0%, with 4 (57%) experiencing disease relapse, resulting in the death of one patient. Additionally, 3 (42.8%) of patients remain alive under second-line management. The overall survival rate was 6 (85.7%), and the disease-free survival rate was 16 (88%). In allogeneic patients, TRM was 5.5% (1/18). One allogeneic patient experienced disease relapse and subsequently died. The overall survival rate and disease-free survival rate were 16 (88%). CONCLUSIONS: The objective of this study was to assess the outcomes of pediatric HSCT patients who have undergone transplantation thus far. Given the recent initiation of pediatric stem cell transplantation in Syria, our dataset provides a basis for comparison with international hematopoietic stem cell transplantation centers regarding treatment complications and outcomes, notwithstanding the challenges and crises faced within our country.
Subject(s)
Hematopoietic Stem Cell Transplantation , Humans , Syria , Retrospective Studies , Child , Female , Male , Child, Preschool , Adolescent , Treatment Outcome , InfantABSTRACT
BACKGROUND: Familial cases of adult acute myeloid leukemia (AML) with germline-mutated CCAAT/enhancer-binding protein-α (CEBPA) gene are a rare entity classified in World Health Organization (WHO) classification 2016. Most families reported in the literature show an autosomal dominant inheritance pattern consistent with a single-gene mutation. METHODS: Here we studied a Syrian family with four individuals suffering from AML for CEBPA gene mutations by Sanger sequencing. RESULTS: The father, his three affected, and one yet unaffected child had the same mutation in the N-terminal region of CEBPA (c.198dupC), resulting in termination at Tyr67Leufs*41. All affected family members had a good primary response to chemotherapy and achieved complete remission. CONCLUSION: Overall, another AML family with CEBPA gene mutation is added to the literature, presenting with yet unreported FAB subtype M5 and absence of CD7 expression in some family members.
Subject(s)
CCAAT-Enhancer-Binding Protein-alpha , Leukemia, Myeloid, Acute , Adult , CCAAT-Enhancer-Binding Protein-alpha/genetics , CCAAT-Enhancer-Binding Proteins/genetics , Child , Germ Cells , Humans , Leukemia, Myeloid, Acute/genetics , Mutation , SyriaABSTRACT
OBJECTIVE/BACKGROUND: Mixed chimerism is a major concern after allogenic hematopoietic stem cell transplantation (HSCT) using a reduced-intensity conditioning (RIC) regimen in primary immunodeficiencies (PIDs). A donor lymphocyte infusion (DLI) escalating dose regimen has been developed with the aim of reducing toxicity while preserving efficacy. However, the graft-versus-host disease (GvHD) development remains the most common and adverse effect of DLI and continues to be a limiting factor in its application, especially nonmalignant diseases such as PIDs. We prospectively evaluated PID patients after HSCT using RIC in Childrens Medical Center, who were candidates for an escalating dose of DLI for MC from 2016 to 2018. METHODS: With the median follow-up of 16.4 months, 12 patients (nine males and three females) with a median age of 3.72 years received DLI. The median number of DLI was 3.2 (range, 1-5), the maximum and total dose of DLIs administered per patient were 3.6 × 107 (range, 1-5) cells/kg CD3+ and 9.3 × 107 (range, 1-15) cells/kg CD3+ cells, respectively. RESULTS: Median donor chimerism at baseline before the DLIs was 41% (range, 11-73%), patients received DLIs at a median of 105 (range, 37-230) days and 52 (range, 3-168) days after the HSCT and onset of the MC, respectively. At the final assessment, six (54.5%) patients improved after DLIs at a median of 47.3 days. CONCLUSION: PID patients may benefit from DLI with an escalating dose regimen, but the GvHD development remains a concern during the DLI, and the optimum dose and frequency must be standardized.
Subject(s)
Graft vs Host Disease , Hematopoietic Stem Cell Transplantation , Primary Immunodeficiency Diseases , Male , Child , Female , Humans , Child, Preschool , Lymphocyte Transfusion , Graft vs Host Disease/etiology , Graft vs Host Disease/prevention & control , Hematopoietic Stem Cell Transplantation/adverse effects , Transplantation Conditioning , LymphocytesABSTRACT
IL-10R deficiency results in severe immune dysregulation. Herein, we describe the successful treatment of a girl aged 6.8 years with IL10R deficiency by using RIC prior to HSCT from a matched unrelated donor. The regimen was well tolerated, the engraftment was completely attained. On a follow-up of 7 months, the patient remained in good medical conditions with full donor chimerism. All complications before HSCT were completely resolved and her growth was accelerated. RIC regimen might be adequate to induce permanent engraftment and avoid severe organ toxicity in IL-10R deficiency patients.
