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Background. Pyruvate kinase (PK) deficiency is the most common enzyme abnormality in the glycolytic pathway. Here, we describe two siblings with PK deficiency that mimicked congenital dyserythropoietic anemia (CDA) type I. Case. The siblings were referred to our hospital for evaluation of anemia when they were newborns. Their PK enzyme activities were normal. Their bone marrow aspirations and electron microscopies showed CDA-like findings. A CDA panel with next-generation sequencing showed no mutation. Though their PK enzyme levels were normal, a molecular study of the PKLR gene showed a homozygous variant c.1623G>C (p.Lys541Asn) in exon 12 of our patients. Conclusions. Although the diagnosis of pyruvate kinase deficiency is difficult, it can be confused with many other diagnoses. Bone marrow findings of these cases are similar to congenital dyserythropoietic anemia. In patients with normal pyruvate kinase enzyme levels, the diagnosis cannot be excluded and genetic analysis is required. [ABSTRACT FROM AUTHOR]

Background. Febrile neutropenia (FN) is a common and serious complication in patients with leukemia. Hemostasis and inflammation are two interrelated systems in response to infection. We aimed to investigate the course of thrombin formation in febrile neutropenia attack of children with acute lymphoblastic leukemia (ALL). Methods. Thrombin generation was monitored in children treated for ALL at diagnosis of febrile neutropenia (FN) (t0), at 48th hour of FN (t1) and after recovery from neutropenia (t2). Results. Twenty-nine patients and 50 healthy children as control were enrolled into the study. Mean endogenous thrombin potential (ETP) and mean peak value of thrombin results at t1 were significantly higher than at t0, t2 and control groups, respectively. A positive but statistically nonsignificant correlation between ETP values at t1 and duration of neutropenia was observed. Conclusion. Although thrombin generation is enhanced both due to chemotherapy or malignancy itself, our results revealed that thrombin formation also increased in neutropenic infection of children with leukemia. [ABSTRACT FROM AUTHOR]

Background. Hemophagocytic lymphohistiocytosis (HLH) may precede malignancy, in particular lymphomas and leukemias. However, the causative factors, appropriate treatment and the prognosis of this association is not established. Case. Herein, we present two patients, one with nodular sclerosing Hodgkin lymphoma (HL) and concomitant Epstein-Barr virus (EBV) infection, and the other with anaplastic large cell lymphoma (ALCL), presented as malignancy associated HLH. Conclusion. In our patients, malignancy directed therapy was sufficient to treat HLH symptoms both at presentation and at recurrence in the second patient. [ABSTRACT FROM AUTHOR]

Despite improvements in diagnosis and treatment, invasive fungal infection (IFI) is still a major cause of morbidity and mortality in immunocompromised patients. In patients with hematologic malignancy, the most invasive fungal infections are caused by Candida and Aspergillus fumigatus. This study was designed retrospectively to summarize data in pediatric patients with acute lymphoblastic leukemia (ALL) and acute myeloblastic leukemia (AML) including risk factors for IFI, epidemiological and clinical features and treatment choices involving combination therapy from January 2006 through December 2014. We analyzed the records of 154 pediatric patients (125 ALL and 29 AML) receiving chemotherapy for hematologic malignancy. During follow-up 60 IFI episodes were observed. IFI episodes were observed more common in AML, compared to ALL (p=0.002). Among 60 IFI episodes, eight were proven, seven were probable and 45 were possible IFI episodes. Galactomannan antigen was investigated in 37 IFI episodes and found positive in seven probable IFI episodes. Fungemia was detected in seven patients with proven IFI and the most common microorganism was non-albicans candida spp. The most common antifungal drug was fluconazole (14.8%). A total of 29 patients (48%) had received empirically liposomal amphotericin B and 10 patients (16.6%) had received caspofungin. Crude mortality was 10.3% and attributable mortality was 6.4% during the study period. Invasive fungal infections continue to be a major cause of morbidity and mortality in children with hematologic cancer. The most common isolated agent from hemoculture was non-albicans Candida spp. [ABSTRACT FROM AUTHOR]