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Background: Data on the risk factors and outcomes for pediatric patients with SARS‐CoV‐2 infection (COVID‐19) following hematopoietic stem cell transplantation (HSCT) are limited. Objectives: The study aimed to analyze the clinical signs, risk factors, and outcomes for ICU admission and mortality in a large pediatric cohort who underwent allogeneic HSCT prior to COVID‐19 infection. Method: In this nationwide study, we retrospectively reviewed the data of 184 pediatric HSCT recipients who had COVID‐19 between March 2020 and August 2022. Results: The median time from HSCT to COVID‐19 infection was 209.0 days (IQR, 111.7–340.8; range, 0–3845 days). The most common clinical manifestation was fever (58.7%). While most patients (78.8%) had asymptomatic/mild disease, the disease severity was moderate in 9.2% and severe and critical in 4.4% and 7.6%, respectively. The overall mortality was 10.9% (n: 20). Deaths were attributable to COVID‐19 in nine (4.9%) patients. Multivariate analysis revealed that lower respiratory tract disease (LRTD) (OR, 23.20, p:.001) and lymphopenia at diagnosis (OR, 5.21, p:.006) were risk factors for ICU admission and that HSCT from a mismatched donor (OR, 54.04, p:.028), multisystem inflammatory syndrome in children (MIS‐C) (OR, 31.07, p:.003), and LRTD (OR, 10.11, p:.035) were associated with a higher risk for COVID‐19‐related mortality. Conclusion: While COVID‐19 is mostly asymptomatic or mild in pediatric transplant recipients, it can cause ICU admission in those with LRTD or lymphopenia at diagnosis and may be more fatal in those who are transplanted from a mismatched donor and those who develop MIS‐C or LRTD. [ABSTRACT FROM AUTHOR]

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Objective: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophagocytic lymphohistiocytosis patients. Materials and Methods: Medical records of 9 patients diagnosed with primary hemophagocytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retrospectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. Results: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was performed in 7 (78%) patients. Conclusion: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoietic stem cell transplantation as soon as they reach the disease remission. [ABSTRACT FROM AUTHOR]

Background: PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations. Observation: Here, we report a patient with PNKP mutation, who developed AML at age of five and underwent reduced‐intensity HSCT. Conclusion: Although many DNA repair disorders are known to have increased risk of malignancy, association between PNKP mutations and malignancy is not well‐described. This report is the first description of a PNPK mutation patient developing a malignancy and undergoing curative HSCT. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to determine the factors affecting outcomes in patients who underwent hematopoietic stem cell transplantation (HSCT) with the diagnosis of severe combined immunodeficiency (SCID). Furthermore, our aim is to share our singlecenter experience of HSCT among SCID patients. Materials and Methods: The data of patients who underwent HSCT with the diagnosis of SCID between January 2014 and January 2021 in the pediatric bone marrow transplant unit of Istanbul Medipol University were retrospectively analyzed. Demographic and clinical data, treatment regimens, donor source, type of transplantation, pre- and post-transplantation infections, and complications were evaluated. Results: Among fifteen patients who underwent HSCT, 5 (33%) were female. The mean age at diagnosis was 3 months (1-6 months), and at transplantation 6 months (3-10 months). The mean time from diagnosis to transplantation was 3 months (2-9 months). There was a history of consanguineous marriage in thirteen (87%) and sibling death in eight (53%) cases. As donors, six (40%) were siblings and five (33%) were unrelated, while four (27%) patients underwent haploid transplantation. Four (27%) patients died during the first 100 days of transplantation. The median follow-up period was 23 months (9-61 months). Overall survival probability was calculated as 73%. Conclusion: SCID should be considered as an emergency in pediatrics. Devastating complications, including severe organ damage, lifethreatening infections, and even death, could appear in case of diagnostic delay. HSCT is a currently available curative treatment option. Subjects with a confirmed diagnosis should be referred to the appropriate bone marrow transplant center and treated as soon as possible. [ABSTRACT FROM AUTHOR]

Delayed recovery of thrombocytopenia is a well‐known complication after allogeneic HSCT. Eltrombopag (ELT), a thrombopoietin receptor agonist (TRAs), induces platelet maturation and release. Mostly conducted in adults, some of the previous studies have shown that ELT seems to enhance platelet recovery for post‐allogeneic HSCT thrombocytopenia, appears efficacious, and offers transfusion independence. To evaluate the safety and efficacy of ELT in pediatric patients with prolonged isolated thrombocytopenia (PIT) or secondary failure of platelet recovery (SFPR) after alloHSCT. Retrospective analysis of childhood patients who received treatment with ELT for persistent thrombocytopenia after alloHSCT between May 2016 and August 2019. We evaluated the safety and efficacy of ELT in 18 childhood patients with PIT or SFPR after alloHSCT. Eltrombopag (50 mg/d) treatment was started in all patients, above 6 years of age and 20 kg weight, who had thrombocytopenia despite neutrophil engraftment on the 30th day of HSCT. Our objective was to decrease the need for platelet transfusion and have a platelet count of more than 50 000/µL. The overall response rate was 77.7%. The median time to achieve a platelet level above 30 000/µL and 50 000/µL was 21 and 44 days, respectively. In four patients, platelet count never reached 30 000/mm3. In two patients, the treatment was discontinued due to grade 3 hepatotoxicity. Our study supports the efficacy and relative safety of ELT use for the treatment of PIT and SFPR seen after alloHSCT in children. [ABSTRACT FROM AUTHOR]

Introduction: (Ph‐like) ALL is a subset of leukemia which has a gene expression profile similar to Ph+disease, but without the presence of BCR‐ABL1 translocation. Case description: We reported an exceptional case of a child with relapsed Ph‐like ALL with IKZF1 gene deletion treated with high‐dose ruxolitinib as monotherapy, after multi‐agent chemotherapy. He remains in continued MRD‐negative leukemia remission with full donor chimerism at 12 months post‐HSCT. Discussion: The circumstance that makes our case featured is the usage of ruxolitinib as monotherapy. This report, we believe, is a pioneering report for a frequent disease with a high risk of failure for the outcome. [ABSTRACT FROM AUTHOR]

Objectives: The aim of the study was to evaluate the utility of 18fluorine-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) in the diagnosis, staging, restaging, and treatment response of childhood malignancies. Methods: This study included 52 patients (32 boys, 20 girls) who were referred to our clinic between November 2008 and December 2018 with the diagnosis of malignancy. The patients were evaluated retrospectively. Median age of the patients was 13 years (range 2-17). 18F-FDG was given to the patients intravenously, and time of flight with PET/16 slice CT was performed 1 hour thereafter. The lowest dose was 2 mCi (74 MBq) and the highest dose was 10 mCi (370 MBq). Fasting blood sugars of all patients were found below 200 mg/dL (11.1 mmol/L). Results: 18F-FDG PET/CT was performed to evaluate the response to treatment in 38 of 52 children, staging in 11 patients (staging and evaluation of the response to treatment in nine of them), restaging in 2 patients, restaging, and evaluation of the response to treatment in 1 patient. 18F-FDG PET/CT examination was reported as normal in 13 patients (5 girls, 8 boys). The pathological 18F-FDG uptake was detected in 39 patients (14 girls, 25 boys), which indicated metastasis and/or recurrence of the primary disease. Total number of deaths was 30 (13 girls, 17 boys). Conclusion: 18F-FDG PET/CT has a significant role for staging, restaging, treatment response, and detection of metastatic disease but it is limited for the early diagnosis of childhood cancers. [ABSTRACT FROM AUTHOR]

Aim: Acute graft-versus-host disease (GVHD) is an complication after allogeneic hematopoietic stem cell transplantation (alloHSCT), manifesting with an erythematous maculopapular rash followed by liver disease and dysfunctions of the gastrointestinal tract. This study aimed to retrospectively investigate the demographic and clinical characteristics of pediatric patients diagnosed with acute GVHD after undergoing allo-HSCT due to various hematological diseases. Material and Methods: The study included 33 pediatric patients that underwent their first allogeneic bone marrow transplantation in the Pediatric Bone Marrow Transplant Unit between 2015 and 2018 and were consecutively diagnosed with acute GVHD in consultation with the department of dermatology. The demographic characteristics, clinical findings, donor characteristics, treatments, and survival status of each patient were recorded. Results: Between 2015 and 2018, bone marrow transplantation was performed in 150 pediatric patients, of whom 33 (22%) developed acute GVHD. Of the 33 pediatric patients, 19 (57.6%) were boys and 14 (42.4%) were girls. At the time of transplantation, the mean age of the patients was 8.5 years, and the median age was 7 years. Twenty patients (60.6%) had only skin GVHD while 13 (39.4%) had skin and gastrointestinal and/or hepatic GVHD. It was found that the rashes had appeared on average 27.4 days after allo-HSCT. Palmoplantar involvement was detected in 13 patients (39.4%), painful erosion in the oral mucosa in 11 (33%), and conjunctivitis in seven (21.2%). The factors of being a male patient, being a female donor, transplantation from unrelated donors, liver involvement, and palmoplantar involvement were found to create risk of mortality, but not significantly (respectively p=0,753;p=0,145,0,66). Five patients (15%) progressed from acute to chronic GVHD. In patients that progressed from acute to chronic had, the mean donor age was higher, the mean time from transplantation to rash was longer, and oral involvement was higher, but not significantly (respectively; p=0,596;p=0,980;p=0,193. Conclusion: In acute GVHD, the skin is the first and most involved organ; therefore, dermatologists play an important role in its diagnosis. This study is important for determining the factors affecting the decrease in progression to chronic GVHD and prolonging survival. [ABSTRACT FROM AUTHOR]

In the pediatric population, hematopoietic stem cell transplantation (HSCT) is used to treat a wide variety of diseases, both malignant and nonmalignant. For many of these diseases, HSCT is a well-established treatment. Acute graft-versus-host disease (GVHD) continues to be a leading cause of morbidity and mortality after allogeneic hematopoietic stem cell transplantation. Graft versus host disease is a common complication of allo-SCT which is induced by donor T cell recognition of recipient alloantigens. The occurrence of autologous GVHD suggests that inappropriate recognition of host self-antigens may occur. GVHD in patients who received autologous HSCT is extremely rare compared to patients who received allogeneic HSCT. We present the case of a 4-year-old girl with metastatic neuroblastoma who spontaneously developed autologous GVHD after autologous HSCT. [ABSTRACT FROM AUTHOR]

The diagnosis of oral lesions is sometimes difficult due to both the clinician’s limited experience with the conditions that may cause the lesions and their similar appearances, especially in children. Correctly establishing a definitive diagnosis is of major importance to clinicians who manage patients with oral mucosal diseases. In patients with Fanconi anaemia (FA), oral ulcers occur frequently, which are quite variable, and may lead to a misdiagnosis or failure to diagnose. Here, we report the case of a 15-year-old boy who was examined for squamous cell cancer of the tongue and diagnosed as having FA without any haematological manifestations. While surgery could not be done, both radiotherapy and chemotherapy had to be decreased. He died of progressive disease 6 months after the diagnosis. Unexplained ulcers in a child with a duration longer than 2 weeks should be further evaluated, especially for FA, even without the presence of anaemia. [ABSTRACT FROM AUTHOR]