Search

Background: Port catheters facilitate the administration of chemotherapy, antibiotics, blood products, fluid and parenteral nutritional support to pediatric patients with hematological malignancies. However, as its use has become widespread, local, and systemic catheter-related infections have emerged as important causes of morbidity and mortality. In our study, we aimed to evaluate the success of antibiotic lock therapy in port catheter- related infections of pediatric patients followed up with acute leukemia. Methods: Port catheter cultures taken from a total of 182 pediatric patients with acute lymphoblastic/myeloblastic leukemia who were followed up at Ankara City Hospital Pediatric Hematology Clinic between August 2019 and August 2023 were evaluated retrospectively. Results: Bacterial growth was identified in 739 port catheter culture specimens of 182 patients. Closure or removal of the port was required in 91, and removal of the port catheters in 49 patients due to port catheter-related infections. Antibiotic lock therapy was started in 56 patients with bacterial growth in the port catheter. With antibiotic lock therapy, port catheter-related infections of 42 patients were eradicated, and their catheters began to be used again. As a result, the port catheter-related infections of 42 of 56 (75%) patients whose ports were closed and also received systemic antibiotherapy were eradicated, and no recurrence of infection was observed. Conclusion: Adding antibiotic lock therapy to systemic antibiotics in pediatric patients may be beneficial in terms of catheter salvage.

Infections are a significant cause of morbidity and mortality of chemotherapy-induced neutropenia in children with acute leukemia. The aim of this study was to evaluate microbiologically documented infections (MDIs) during febrile neutropenia (FN) episodes and their relation to mortality. Four hundred eighty-seven FN episodes of 140 children were enrolled in this single-center study, and MDI in those FN episodes was retrospectively examined. Eighty-four patients (60%) had at least one positive peripheral blood, central line, or urine culture. MDIs were detected in 163 of 487 (33.4%) FN episodes of 84 children with leukemia. Gram-negative bacteria, Gram-positive bacteria, and fungal agents were isolated in 52.7%, 40.4%, and 6.9% of whole episodes. Coagulase-negative Staphylococci and Enterococci were the most detected Gram-positive bacteria. Klebsiella spp. and Escherichia coli were the most common Gram-negative bacteria isolated in the entire cohort. A central line was present in 145 MDI episodes, and catheter removal was required in 35 cases (17.7%) due to infection with Gram-negative bacteria, Gram-positive bacteria 43%, 28.5%, and fungus 28.5%, respectively. MDI-related mortality was 9.8%. The highest mortality rate (16.7%) was observed in Gram-negative bacteria and patients with relapsed and resistant leukemia. The most common infectious agent related to mortality was Klebsiella (31%). Resistance to third- or fourth-generation cephalosporins in Gram-negative bacteria was found to be over 50% of our cohort uri. Empirical antibiotic therapy at the onset of FN in neutropenic patients is crucial; therefore, the institution’s predominant pathogens and resistance patterns should guide the choice of empirical antimicrobials. To reduce mortality and morbidity, each center should know its local epidemiological data and antibiotic susceptibility.

Cancer care is progressively became as a significant worldwide challenge. Wars can cause destructions and delays in cancer diagnosis and treatment of displaced people. Cancer cure rates need to be improved in indefensible populations such as refugees. In this study, we purposed to highlight the clinical peculiarities and outcomes of refugee children with cancer in our hospital. Our purpose was to present our findings and contribute to improve the health care for these children. Seventy one refugee pediatric patients admitted to the oncology and hematology units of our hospital between April 2011 and January 2019 were included in this study. The demographic characteristics of the patients at the initial diagnosis, their countries of origin, living conditions, histopathological diagnoses, treatments, relapse, and mortality data were analyzed retrospectively from the patient files. The median age of patients was 6.5±4.5 years, and the male-to-female ratio was 39/32. While 44 patients (61.9%) presented with complaints and had primary diagnoses in our hospital, the remaining 27 patients (38.1%) were diagnosed in their country and applied to our hospital for treatment. Our mean follow-up period was 18.2±18.8 months (1-90 months). As a result, 44 patients (62%) were alive and 22 (31%) were dead. The survival rate without relapse in the second year was 83.6%. Two and fiveyear survival rates were 77.5% vs. 58.1% respectively. Compared to Turkish children, lower survival rates were found in refugee children. In addition to cancer-specific factors such as tumor type and stage, some problems such as shelter, communication, adherence to treatment, and difficulties supplying medicine may be responsible for lower survival rates in refugee children. Further studies are needed to improve the survival rates of patients.

Objective: The role of combination regimens in the treatment of invasive fungal infections (IFIs) in hematologic malignancies remains unclear. We aimed to demonstrate data about combined antifungal therapy (CAT) in pediatric leukemia patients with IFI. Method: Between January 2014 and December 2018, a total of 33 IFI episodes in 28 leukemia patients were analyzed retrospectively. Results: The study patients had acute lymphoblastic leukemia (n=19), acute myeloblastic leukemia (n=9), leukemia relapse (n=21; 75%) and remission (n=7; 25%). The patients were classified as having possible (n=26; 78.8%), probable (n=5; 15.1%) and proven IFI (n=2; 6.1%). Liposomal amphotericin B (LamB) was the most preferred agent (50%) in monotherapy. Mean duration of monotherapy was 12.84+-4.28 (5-24) days. LamB plus voriconazole (54.5%) was the most commonly preferred CAT. Mean duration of CAT was 42.36+-36.4 days, and this combination regimen was not changed throughout the treatment period (p=0.571). Total and IFI-related mortality rates were 60.7% vs 46.4%, respectively. Mortality rates were significantly higher in patients with relapse (p=0.006). Complete response was obtained in 81.8% of surviving patients. Side effects of CAT were observed at quite a low level. Conclusion: CAT has been found to be safe in the treatment of IFI episodes of pediatric leukemia. Uncontrolled underlying disease is the most important factor affecting the mortality rates in IFI.

Objective: Congenital neutropenia (CN) is a rare inherited hematological disease and its phenotypic, histologic and molecular aspects are heterogeneous. Congenital neutropenia can manifest as isolated neutropenia or neutropenia with extra-hematopoietic abnormalities, immunodeficiency or metabolic diseases and results in recurrent, life-threatening bacterial infections. Mutations in more than 20 genes have been demonstrated to cause CN, some of which cause complex phenotypes. Case report: Usually caused by ELANE mutations although mutations in other genes like HAX-1, G6PC3, and GF11 have also been reported. Identifying the causative mutation aids in the diagnosis and ruling out other secondary causes of neutropenia. In this study we aimed to identify the molecular defects in CN patients by next generation sequencing (NGS). Methodology: Next generation sequencing test was performed on peripheral blood specimens of 17 patients diagnosed with congenital or chronic neutropenia and bone marrow failure and hematological malignancy ruled out from January 2021- June 2023. The genes in the NGS panel were; LAMTOR2, CLPB, HAX1, USB1, SBDS, JAGN1, TAZ, ELANE, G6PC3, WAS, CXCR4, GFI1, VPS45, VPS13B. Results: The median age at presentation of neutropenia was 28.9 months. Mean neutrophil count at diagnosis was 380± 259/mm3. Bone marrow aspiration was performed in ten patients and myeloid maturation arrest was observed five. Granulocyte colony stimulating factor was given for seven patients and all had a response. In the NGS panel TAZ mutation was detected in one patient compatible with Barth Syndrome and VPS13 double heterozygous mutation was detected in one patient compatible with Cohen Syndrome. Conclusion: Considering the heterogeneity of CN in terms of genotypes and phenotypes expanded next generation sequencing panel would be necessary. The early onset of the disease, clinical severity and associated high risk of malignant transformation in CN strongly suggests the need for early diagnosis and therapeutic intervention.

Objective: Polyoma BK virus (BKV) infection/reactivation is an important underlying condition that provokes hemorrhagic cystitis (HC) in hematopoietic stem cell transplantation (HSCT) recipients. However, BKV associated infections can rarely occur in acute leukemia patients without receiving HSCT. Here we present 12 pediatric acute leukemia patients with BKV infection during leukemia treatment. Methodology: Between September 2019 and July 2023, in Ankara Bilkent City Hospital, BKV by quantitative polymerase chain reaction (PCR) detected in the urine of 12 pediatric leukemia patients who had not got HSCT but receiving intensive chemotherapy. The clinical characteristics of these infections were retrospectively evaluated. Results: Ten of the 12 patients had acute lymphoblastic leukemia (ALL). Seven of the 10 ALL cases were T cell ALL. Ten of the patients were male and 10 of the patients’ age were 10 years and older. Eleven patients experienced HC and one patient had epididymitis. The copy number of BKV varied between 470 to 1.3 trillion /mL. Seven patients had got treatment ranging from hydration, ciprofloxacin to bladder irrigation. Except a refractory T cell ALL patient, all of the patients had clinical improvement. Conclusion: Although it is a major complication of HSCT and solid organ transplantation, BK virus infection can also occur in pediatric acute leukemia patients during treatment. As in HSCT recipients, male gender and older age seems as risk factors in leukemia patients. Due to complete loss of virus specific T lymphocytes, T cell ALL patients may be more prone BK virus activation.

Objective: Acute leukemia is the most common pediatric hematological malignancy. Blood stream infections (BSI) are severe complications in these patients during chemotherapy. In patients with leukemia, early detection of the infectious agent and rapid initiation of appropriate treatment increase the success of treatment and reduce the death rate. In this study, we aimed to compare the causative microorganism and detection time with classical blood culture and sepsis qPCR MX-30 panel Methodology: Patients aged

Objective: Abnormal uterine bleeding (AUB) is a common menstrual problem in adolescent girls. Every adolescent with AUB should also be evaluated for bleeding disorders. This study evaluated adolescent girls with AUB, with and without bleeding disorders, as well as their coping skills and menstruation specific quality of life compared to their peers. Methodology: The research was conducted in Ankara Bilkent City Hospital, Department of Pediatric Hematology and Adolescent Health as a prospective cross sectional study. The aim of this study was to determine coping skills and menstruation-related quality of life of adolescent girls with AUB according to Pediatric Bleeding Questionnaire Scoring and Menstrual Assessment Chart. 167 patients with AUB and 165 control group, were included in our study. Each patient was evaluated by the hematology department in terms of bleeding disorder. The participants completed the Adolescent Coping Scale (CEIBO), the Children's Quality of Life Scale (PedsQL) and a scale developed by the researchers to determine the directly menstruation related quality of life (MRQL). Results: Bleeding disorder was found in 10.1% of adolescents diagnosed with AUB. When the CIBS sub-dimensions were compared between the patient and control groups, no significant difference was found between them (p=0,056). In adolescents with AUK; total quality of life score, and quality of life score related to school and physical health functionality were found to be statistically significantly lower than the adolescents in the control group (p=0,004; p=0,007). When the adolescents with AUK were compared with the adolescents in the control group, there was no significant difference between the social functionality and emotional functionality quality of life sub-dimensions (p=0,116; 0,063). Menstruation related quality of life was found to be significantly lower in adolescents with AUB (p0,05) Menstruation related quality of life was found to be significantly lower in adolescents with AUB than in those with bleeding disorders and the control group. (p

Objective: Anthracyclines are widely used in the treatment of acute lymphoblastic leukemia (ALL). However, cardiotoxicity is the most critical side effect that requires dose limitation. It is thought to occur at first exposure, but the clinical presentation may occur years later. In this study, we aimed to determine the time of initial damage and cardiotoxicity that develops in children with ALL. Methods: In this prospective study, 13 patients with newly diagnosed intermediate-risk precursor B cell ALL treated with the ALL-IC BFM 2009 protocol were included. Conventional echocardiography, tissue Doppler imaging (TDI), and speckle-tracking echocardiography (STE) were performed in all the patients before chemotherapy, after completing the induction phase, and at the end of the reinduction phase. Results: The mean age of the patients was 7.8+-4.6 (3.1–16.3) years. Myocardial velocity during systole (Sm) determined by TDI at the interventricular septum significantly decreased during the induction phase. Despite a decrease in STE parameters, a statistically significant reduction was determined in the global longitudinal strain rate at both left and right ventricles at the end of the induction. Nevertheless, a statistically significant increase was observed among the conventional echocardiographic findings in the left ventricular end-diastolic diameter at the end of the reinduction. Conclusion: During the treatment of ALL, subclinical anthracycline-associated cardiotoxicity develops in the early stages of treatment. The findings detected by TDI and STE could be missed by conventional echocardiography. We recommend evaluating patients with these newly developed techniques to detect subclinical cardiotoxicity at an early stage and starting appropriate therapy on time.

Objective: This study aimed to evaluate systemic thrombolysis experiences with recombinant tissue plasminogen activator (rtPA). Materials and Methods: Retrospective data were collected from 13 Turkish pediatric hematology centers. The dose and duration of rtPA treatment, concomitant anticoagulant treatment, complete clot resolution (CCR), partial clot resolution (PCR), and bleeding complications were evaluated. Low-dose (LD) rtPA treatment was defined as 0.01-0.06 mg/kg/h and high-dose (HD) rtPA as 0.1-0.5 mg/kg/h. Results: Between 2005 and 2019, 55 thrombotic episodes of 54 pediatric patients with a median age of 5 years (range: 1 day to 17.75 years) were evaluated. These patients had intracardiac thrombosis (n=16), deep vein thrombosis (DVT) (n=15), non-stroke arterial thrombosis (n=14), pulmonary thromboembolism (PE) (n=6), and stroke (n=4). The duration from thrombus detection to rtPA initiation was a median of 12 h (range: 2-504 h) and it was significantly longer in cases of DVT and PE compared to stroke, non-stroke arterial thrombosis, and intracardiac thrombosis (p=0.024). In 63.6% of the episodes, heparin was initiated before rtPA treatment. LD and HD rtPA were administered in 22 and 33 of the episodes, respectively. Concomitant anticoagulation was used in 90% and 36% of the episodes with LD and HD rtPA, respectively (p=0.0001). Median total duration of LD and HD rtPA infusions was 30 h (range: 2-120 h) and 18 h (2-120 h), respectively (p=0.044). Non-fatal major and minor bleeding rates were 12.5% and 16.7% for LD and 3.2% and 25.8% for HD rtPA, respectively. At the end of the rtPA infusions, CCR and PCR were achieved in 32.7% and 49.0% of the episodes, respectively. The most successful site for thrombolysis was intracardiac thrombosis. HD versus LD rtPA administration was not correlated with CCR/PCR or bleeding (p>0.05). Conclusion: Systemic thrombolytic therapy may save lives and organs effectively if it is used at the right indications and the right times in children with high-risk thrombosis by experienced hematologists with close monitoring of recanalization and bleeding.

Objective: Immune thrombocytopenia (ITP) is a rare autoimmune disease and hematologic disorder characterized by reduced platelet counts that can result in significant symptoms, such as bleeding, bruising, epistaxis, or petechiae. The thrombopoietin receptor agonist eltrombopag (EPAG) is a second-line agent used to treat chronic ITP purpura in adults and children. Materials and Methods: The present retrospective study evaluated the efficacy, safety, and side effects of EPAG treatment in pediatric patients with acute refractory and chronic immune thrombocytopenia, particularly focusing on iron-deficiency anemia. Results: The diagnosis was chronic ITP in 89 patients and acute refractory ITP in 16 patients. The mean age of patients was 9.5+-4.5 years (minimum-maximum: 1.2-18 years) at the beginning of EPAG treatment. The overall response rate was 74.3% (n=78). The mean time for platelet count of ≥50x109/L was 11.6+-8 weeks (range: 1-34 weeks). The treatment was stopped for 27 patients (25.7%) at an average of 6.8+-9 months (range: 1-38 months). The reason for discontinuation was lack of response in 18 patients, nonadherence in 4 patients, and hepatotoxicity in 2 patients. Response to treatment continued for an average of 4 months after cessation of EPAG in 3 patients. Conclusion: Results of the current study imply that EPAG is an effective therapeutic option in pediatric patients with acute refractory and chronic ITP. However, patients must be closely monitored for response and side effects during treatment, and especially for iron deficiency.

Objective: Fresh frozen plasma (FFP) is the primary source of coagulation factors. Indications of FFP use are very limited such as disseminated intravascular coagulation, massive bleeding, thrombotic thrombocytopenic purpura, biopsy for chronic liver disease, and reversing warfarin anticoagulation with severe bleeding. In clinical practice, FFPs are reported to be used inappropriately either in respect of the particular indication or excessive in adult studies. Therefore, we aimed in this study to evaluate indications of pediatric FFP usage in our tertiary care hospital Methodology: Patients aged 0-18 years, who were hospitalized in Ankara City Hospital Children's Hospital between September and December 2020, were analyzed retrospectively. Demographic information, diagnosis, FFP transfusion indication, pre-transfusion coagulation results, surgical procedure and bleeding status, and the amount of FFP administered were recorded. Statistical analysis was done with SPSS 18.0 program. Results: 1110 units of FFP were transfused to 324 patients (57% males) in 987 transfusion episodes. The mean age of the patients was 5.4±5.7 years68% of the transfusion episodes had a pre-transfusion coagulation testing. 249 (25%) of the transfusion episodes were given before or after minor or major surgery, and 226 (23%) were for plasmapheresis. The most FFP usage was in pediatric and cardiovascular surgery intensive care and hematology/oncology clinics. 69% of the FFP transfusions were appropriate. Conclusion: Misuse of FFP exposes patients to unpredictable adverse effects such as allergic reactions, infectious complications, hemolysis, fluid overload, and transfusion-induced acute lung injury (TRALI). In this study, the use of FFP in children was evaluated for the first time in our country, and it was found that the 31% of the FFP transfusions was inappropriate. Regular audit and education programs for the efficient use of FFP by hospital transfusion committees can improve transfusion practices.

Case report: We present three children with precursor B acute lymphoblastic leukemia (ALL). The first one had malignancy associated hypercalcemia at diagnosis. The second one experienced hyperamonemia during induction. Both of them had been treated successfully. The last one had refractory leukemia and died because of lactic acidosis due to extensive infiltration of the liver by tumor cells. The rare but potential fatal metabolic complications of ALL needs high clinical suspicion and prompt treatment.

Objective: In the second half of April 2020, a new syndrome associated with SARS-CoV-2 infection,”multisystem inflammatory syndrome in children” (MIS-C), was defined by the World Health Organization.However, the risk factors that predispose some children to develop this inflammatory response are poorly understood .Determining the clinical risk factors of MIS-C is important in preventing undesirable complications such as death in children. Methodology: In this study, we aimed to investigate the effect of ABO blood groups, hematological parameters (white blood cell, absolute neutrophil, absolute lymphocyte, platelet count, prothrombin time, activated partial thromboplastin time), cardiac parameters (troponin, brain natriuretic factor, electrocardiography) of patients diagnosed with MIS-C in Ankara City Hospital during the pandemic shortening fraction, ejection fraction), infectious parameters (c-reactive protein, interleukin-6, sedimentation) were analyzed retrospectively. Results: Of our 89 cases, 49 (55.1%) were group A, 3 (3.4%) were group AB (3.4%), and 11 (12.4%) were group B. 60 of our patients presented with cardiac involvement, 14 with acute abdomen, 1 with seizure, and 1 with acute kidney injury. In clinically severe cases, MPV was higher and platelet count was lower. O blood group were diagnosed with MISC at a later age. Patients with A blood group have a statistically significantly less serious course compared to other blood groups. Conclusion: In our study, we found that individuals with A blood group had MISC more frequently than other blood groups, and MISC was less severe in these patients compared to other blood groups.

Objective: In the 5-year follow-up of patients diagnosed with Juvenile Myelomonocytic Leukemia (JMML) in a single center; reveal treatment and survival analyzes Methodology: In this study, clinical and laboratory data of 12 JMML patients followed in Ankara Pediatric Hematology Hospital and Ankara City Hospital Pediatric Hematology Clinics between 2015-2020 were analyzed retrospectively. Results: The median age at diagnosis was 1.7 years (0.23-5.7). Monosomy 7, 4 PTPN11, 2 NRAS, 4 KRAS, 1 CBL mutations were detected in 2 of the patients. Hematopoietic stem cell transplantation was performed in 8 of the patients. Before transplantation, 7 patients had received a median of 4 cycles of azacitidine treatment. The mean time from diagnosis to transplantation was 15 months (1-29 months). The 5-year overall survival at median 15-month follow-up was 50%. Conclusion: With hypomethylating agents and HSCT, survival in JMML improves compared to historical control groups. However, further multicenter prospective studies are needed to prevent long-term mortality and morbidity.

Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency, fevers and developmental delay at varying degrees. Here we present a 10-year-old girl with periodic fever, retinitis pigmentosa, B cell deficiency, seizures and transfusion free sideroblastic anemia due to compound heterozygote TRNT1 mutation.

Case report: We describe a five-year-old girl with high risk B precursor acute lymphoblastic leukemia with central nervous system involvement. Laboratory tests suggested the presence of central hypothyroidism (thyroid-stimulating hormone [TSH]: 0.30 mU/ml, normal range 0.64–6.27 mU/ml; serum free thyroxine [FT4]: 0.70 ng/dl, normal range 0.86–1.4 ng/dl). Magnetic resonance imaging detected heterogeneous contrast enhancement of pituitary gland in addition to cerebral and cerebellar atrophy.

Objective: The aim of the study; To determine the frequency, etiological factors, treatment, long-term follow-up and recurrence rates of thrombosis in children. Methodology: Children with thrombosis in Ankara City Hospital between December 2018 and August 2021 were included. Patients were called or examined at 6–12-month intervals. Results: A total of 328 patients with a mean age of 6.9 were included.Catheter-related thrombosis was present in 52.7%.There were 14% arterial thrombosis and 59% venous thrombosis.Intracardiac thrombosis 16.2%, pulmonar thrombosis 2.4%, serebral thromboembolism %20 were detected.In the treatment, subcutaneous ondansetron (78.6%) was used mostly, but intravenous ondansetron was given in 6 patients and TPA was given 20 patients.In a mean follow-up of 15.8 months, 5 (1.5%) patients died due to thrombosis. Conclusion: Determining the etiological factors of patients with recurrence thrombosis is important for the duration of treatment in the follow-up.

INTRODUCTION: Febrile neutropenia (FN) is a common and life-threatening complication of therapy for childhood cancer. Serious bacterial illness is a significant cause of morbidity and mortality for neutropenic patients The primary objective was to describe etiology and clinical course of fever in neutropenic children with cancer. The aim was to identify the invasive bacterial infection (IBI) risk and factors associated with mortality in pediatric cancer FEN patients. METHODS: This study was a retrospective review of children from 0 to 18 years of age who received chemotherapy between January 2006 and and December 2013 in University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital. Documented infections and mortality were examined through the induction period. RESULTS: There were 134 children and 325 neutropenic fever episodes evaluated. The most common preexisting risk factor for invasive bacterial infection was acute myeloid leukemia phenotype, thrombocytopenia, bloodstream infection, C-reactive protein value >9 mg/dL and pneumoniae. In our series overall infection- associated mortality was found as 4% similar as in the literature. DISCUSSION AND CONCLUSION: Invazive bacterial infections still be major cause of mortality and morbidity for pediatric leukemia.

Objective: This study aimed to define the status of juvenile myelomonocytic leukemia (JMML) patients in Turkey in terms of time of diagnosis, clinical characteristics, mutational studies, clinical course, and treatment strategies. Materials and Methods: Data including clinical and laboratory characteristics and treatment strategies of JMML patients were collected retrospectively from pediatric hematology-oncology centers in Turkey. Results: Sixty-five children with JMML diagnosed between 2002 and 2016 in 18 institutions throughout Turkey were enrolled in the study. The median age at diagnosis was 17 months (min-max: 2-117 months). Splenomegaly was present in 92% of patients at the time of diagnosis. The median white blood cell, monocyte, and platelet counts were 32.9x109/L, 5.4x109/L, and 58.3x109/L, respectively. Monosomy 7 was present in 18% of patients. JMML mutational analysis was performed in 32 of 65 patients (49%) and PTPN11 was the most common mutation. Hematopoietic stem cell transplantation (HSCT) could only be performed in 28 patients (44%), the majority being after the year 2012. The most frequent reason for not performing HSCT was the inability to find a suitable donor. The median time from diagnosis to HSCT was 9 months (min-max: 2-63 months). The 5-year cumulative survival rate was 33% and median estimated survival time was 30+-17.4 months (95% CI: 0-64.1) for all patients. Survival time was significantly better in the HSCT group (log-rank p=0.019). Older age at diagnosis (>2 years), platelet count of less than 40x109/L, and PTPN11 mutation were the factors significantly associated with shorter survival time. Conclusion: Although there has recently been improvement in terms of definitive diagnosis and HSCT in JMML patients, the overall results are not satisfactory and it is necessary to put more effort into this issue in Turkey.

Objective: Improvement in long-term survival in patients with acute lymphoblastic leukemia (ALL) in childhood has led to the need for monitorization of treatment-related morbidity and mortality. In the current study, we aimed to evaluate endocrine side effects of treatment in ALL survivors who were in remission for at least 2 years. Materials and Methods: Sixty patients diagnosed with ALL, who were in remission for at least 2 years, were cross-sectionally evaluated for long-term endocrine complications. Results: The median age of the patients at the time of diagnosis, at the time of chemotherapy completion, and at the time of the study was 5 years (minimum-maximum: 1.7-13), 8 years (minimummaximum: 4.25-16), and 11.7 years (minimum-maximum: 7-22), respectively, and median follow-up time was 4 years (minimummaximum: 2-10.1). At least one complication was observed in 81.6% of patients. Vitamin D insufficiency/deficiency (46.6%), overweight/ obesity (33.3%), and dyslipidemia (23.3%) were the three most frequent endocrine complications. Other complications seen in our patients were hyperparathyroidism secondary to vitamin D deficiency (15%), insulin resistance (11.7%), hypertension (8.3%), short stature (6.7%), thyroid function abnormality (5%), precocious puberty (3.3%), and decreased bone mineral density (1.7%). There were no statistically significant correlations between endocrine complications and age, sex, and radiotherapy, except vitamin D insufficiency/deficiency, which was significantly more frequent in pubertal ALL survivors compared to prepubertal ALL survivors (57.5% and 25%, respectively, p=0.011). Conclusion: A high frequency of endocrine complications was observed in the current study. The high frequency of late effects necessitates long-term surveillance of this population to better understand the incidence of late-occurring events and the defining of high-risk features that can facilitate developing intervention strategies for early detection and prevention.

Congenital amegakaryocytic thrombocytopenia (CAMT) generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene (c-MPL). The association between CAMT and c-MPL mutation type has been reported in the literature. Patients with CAMT have been categorized according to their clinical symptoms caused by different mutations. Missense mutations of c-MPL have been classified as type II and these patients have delayed onset of bone marrow failure compared to type I patients. Here we present a girl with severe clinical course of CAMT II having a missense mutation in exon 4 of the c-MPL gene who was admitted to our hospital with intracranial hemorrhage during the newborn period.

Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening condition. Uncontrolled proliferation of activated lymphocytes secreting high amounts of inflammatory cytokines seems to be the main pathogenesis. The diagnosis of HLH can often be difficult. It may presents in many forms such as fever of unknown origin, hepatitis, acute liver failure, and sepsis-like illness. Here we present a newborn galactosemia case presented with HLH. Close monitoring of the diagnostic criteria of HLH during the course of galactosemia-associated hemophagocytosis, both before and after dietary treatment, should be performed in order to fully determine if the triggering mechanism is infection or accumulation of metabolites.

Objective: This study analyzes the clinical and laboratory findings of children with primary hemophagocytic lymphohistiocytosis (HLH) followed in various referral centers of Turkey.Materials and Methods: A simple three-page questionnaire prepared by the Turkish Histiocyte Study Group was used for documentation of patient data.Results: Age at diagnosis varied from 0.6 to 78 months (median±SD, 16.5±26.1). Sex distribution was almost equal (F/M=10/12). The frequencies of parental consanguinity and sibling death in the family history were 100% and 81.1%, respectively. The most common clinical findings were hepatomegaly (100%) and fever (95%). The most common laboratory findings were anemia (100%), hyperferritinemia (100%) and thrombocytopenia (90.9%). Triglyceride and total bilirubin levels in the deceased versus surviving group appear to be high (triglyceride: 394±183 mg/dl, 289±7 mg/dl; total bilirubin: 2.7±6.9 mg/dl, 0.5±1.2 mg/dl, respectively).Conclusion: We concluded that fever, hepatosplenomegaly, anemia, thrombocytopenia, and hyperferritinemia are the most common clinical and laboratory findings in primary HLH. Increased triglyceride and total bilirubin level at the time of diagnosis might be an indicator of poor prognosis in HLH.