Prognostic Factors and Long-term Outcomes in 41 Children With Primary Hemophagocytic Lymphohistiocytosis: Report of a Single-center Experience and Review of the Literature.

Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory syndrome with diverse clinical manifestations leading to major diagnostic and therapeutic difficulties. This study aimed to evaluate clinical manifestations, prognostic factors, and long-term outcomes in children with primary HLH. Forty-one patients diagnosed with primary HLH were retrospectively evaluated for patient characteristics, HLH gene mutations, clinical and laboratory manifestations, prognostic factors, and long-term outcomes. The median age of the patients at the time of diagnosis was 3 months (minimum to maximum: 1 to 144 mo). There were 23 patients who had HLH mutation analysis performed, 10 patients with PRF1 mutation, 6 with STX11 mutation, and 7 with UNC13D mutation. Thirteen patients (31.7%) had central nervous system involvement. No correlation was found between overall survival and central nervous system involvement. The estimated 5-year overall survival for the patient who had hematopoietic stem cell transplantation was 9.4 times better than the patients who did not receive hematopoietic stem cell transplantation (81.3% vs 16.7%; P = 0.001). Median serum sodium and blood urea nitrogen levels were significantly higher in deceased HLH patients compared with surviving HLH patients ( P = 0.043, and P = 0.017, respectively). Primary HLH has a poor outcome with high mortality, which necessitates well-designed and international clinical trials to improve diagnosis, therapy, and long-term outcomes.

A comparison of hypersensitivity reactions between intravenous and intramuscular applications of native E. coli asparaginase in children with acute lymphoblastic leukemia.

INTRODUCTION: Asparaginase is an indispensable drug in treating childhood acute lymphoblastic leukemia (ALL). Hypersensitivity reactions (HSR) are the most common side effects and interfere with the antineoplastic activity of the drug. This study aims to compare the intramuscular (IM) and intravenous (IV) administration routes of Native Escherichia coli Lasparaginase (L-ASNase) in terms of hypersensitive reactions. METHODS: L-ASNase was randomly administered IV or IM to newly diagnosed ALL patients and HSR was monitored in all patients for 1 h following the end of the IV infusion and for 2 h following the end of the IM administration of L-ASNase. Based on a retrospective review of clinical charts, reactions were identified. In order to determine the severity of each allergic reaction, we used the Common Terminology Criteria for Adverse Events (CTCAE) version 4.03 for allergic reactions. RESULTS: A total of 1032 doses of L-ASNase were administered to 85 patients (42 males and 43 females) during the study period. Among 85 patients, 30 reactions were recorded, which means that 35% of the patients reacted. According to the CTCAE, twenty-nine out of 30 reactions (97%) were grade 2, while one (3%) was grade 4. In terms of individual doses, there was a non-significant trend toward increased incidence of reactions with IV administration (3.8% versus 0.9%, p = 0.064). The rate of reactions was higher in patients who received all IV doses (n: 60) as compared to those who received all IM doses (n: 25) (31.7% vs. 3.5%; chi-square= 8.415, p value=0.04). Based on the risk groups and HSR incidence, it was found that high risk group (HRG) patients were significantly more likely to develop HSR compared to the standart risk group (SRG) and intermediate risk group (MRG) patients (chi-square p = 0.003, CI: 95%; odds ratio: 3.12 and 5.91, respectively). CONCLUSIONS: In conclusion, IM administration of L-ASNase causes significantly less HSR to L-ASNase than the IV route. Patients with HRGALL have a higher risk of HSR. Since L-ASNase is still used in many developing countries and there are problems in the supply of Erwinia chrysanthemi ASNase (Erwinia), LASNase can be administered IM to reduce the frequency of HSR.

Hematopoietic Stem Cell Transplantation and Results in Pediatric Patients with Thalassemia Major: Single-Center Study.

OBJECTIVE: This study aimed to reveal whether patients with thalassemia major, who were followed up in our clinic, were given information about hematopoietic stem cell transplantation (HSCT) preparations, results, and complications. MATERIALS AND METHODS: A total of 190 patients diagnosed with thalassemia major between 1991 and 2019 at the Pediatric Hematology-Oncology Clinics of Istanbul Kanuni Sultan Suleyman Education and Research Hospital were retrospectively analyzed. RESULTS: Median age of the patients and follow-up time were 9 years (range 1-5) and 42.9 months (range 1-285), respectively. The IVSI-110 was the most frequently (30.4%) encountered mutation; there was no information about HSCT in 28 patients' files, 36 patients had no human leucocyte antigen-matched donors, and 38 patients had undergone HSCT. Pretransplant median ferritin levels in thalassemia major patients who had undergone HSCT and who had not undergone HSCT were 1751 ng/mL (350-4000) and 1300 ng/mL (396-4000) (P = .149), respectively. The median age of HSCT was 6.5 years, and 24 patients were transplanted from human leucocyte antigen-matched sibling donors, 8 from human leucocyte antigen-matched family donors, and 5 patients from human leucocyte antigen-matched unrelated donors with the myeloablative conditioning regimen. Acute and chronic complication rate was higher in patients transplanted from human leucocyte antigen-matched family donors compared to human leucocyte antigen-matched sibling donors (50% vs 28% and 60% vs 8.3%), respectively; complication odd ratio was 6.7 (%95 CI 1.4-32). CONCLUSION: Human leukocyte antigen typing, donor search, and timely information about HSCT were noted to be performed in two-thirds of the thalassemia major patients, and around half of the patients underwent HSCT. Both acute and chronic complications were significantly higher in patients transplanted from matched unrelated donors.

Importance of mannose-binding lectin2 polymorphism (rs1800450) in infections in children.

PURPOSE: Mannose-binding lectin (MBL) is a serine protease belonging to the collectins and an important factor in the inherited immune system. We aimed to reveal the distribution of different MBL2 genotypes in patients diagnosed with acute bronchiolitis and pneumonia. MATERIAL AND METHODS: A total of 147 patients who applied to Paediatric Emergency between 01.12.2019 and 31.12.2020 were included in the study. Patients were divided into two subgroups: Bronchiolitis and pneumonia. RESULTS: AA genotype was found to be significantly higher in healthy controls (p = 0.039). In the pneumonia group, both AB/BB genotype was significantly higher compared to healthy controls (p = 0.001). While the AA genotype was more common in patients with acute bronchiolitis, AB/BB genotypes were more common in the pneumonia group (p = 0.001). The presence of fever, crepitation, tachypnoea, pathological x-ray finding, and high leukocyte count are significantly more common in patients with AA genotype, while more than 3 days of follow-up duration and severe clinical picture were more common in patients with AB/BB genotypes (p < 0.05, for all). CONCLUSIONS: Genotypes with low MBL expression were significantly more common in patients with pneumonia and severe infection. All these results reveal the importance of MBL polymorphisms and their expression in infections.

Burkitt Leukemia With Precursor B-Cell Immunophenotype and Dual Translocation of t(14;18) and t(8;14) in a Child: Case Report and Review of the Literature.

BACKGROUND: Burkitt leukemia (BL) with the precursor B-cell immunophenotype is a rarely reported condition. The prognosis of such patients is similar to that of classic BL. However, the combination of chromosomal translocations associated with bcl-2 and c-myc rearrangement has a poor prognosis. OBSERVATIONS: An 11-year-old child presented with fever and weakness. Bone marrow aspiration showed morphologically L1 type blasts and flow cytometry analysis was compatible with precursor B-cell immunophenotype. Cytogenetic analysis revealed a combination of t(8;14) and t(14;l8). CONCLUSIONS: The combination of t(8;14) and t(14;l8) can exhibit different immunophenotypical and morphologic features in leukemias.