The CCAAT/enhancer binding protein (C/EBP) alpha (CEBPA) and Runt-related transcription factor 1 (RUNX1) genes have been traditionally regarded as two essential genes involved in normal myeloid maturation. Although the link between mutations in these genes and the development of acute myeloid leukemia (AML) has been extensively documented, the ramifications of gene expression dysregulations of CEBPA and RUNX1 has drawn less attention. The present study investigated CEBPA and RUNX1 gene expression levels in 96 primary AML specimens against a normal control group by way of real-time RT-PCR. Our results reveal that CEBPA and RUNX1 gene expression levels were unexpectedly and significantly higher in patients with AML when compared to the levels detected in the normal control group (P < 0.0001). Furthermore, the correlation between CEBPA and RUNX1 was significant and positive (P-value: 0.011, r: 0.257). Our data contradicts the widely established role of CEBPA and RUNX1 in myeloid differentiation, as we saw lower levels of CEBPA and RUNX1 expression to be exhibited in patients with AML. Likely, our data demonstrates that higher levels of CEBPA and RUNX1 expression were closely correlated with reduced myeloid maturation, but this idea needs to approved. It suggests that despite the current established functions of genes involved in cell differentiation, the leukemogenesis process has the capability to transform normal hematopoietic precursors in a manner that may employ the differentiation related gene at the service of malignancy.

Imerslund-Grasbeck syndrome (IGS) is a rare syndrome characterized by clinical symptoms and signs of Vitamin B12 deficiency and proteinuria. Our patient was a 5-year-old boy with pallor, lack of appetite, and low weight gain. Laboratory studies showed severe macrocytic anemia, normal reticulocyte count, negative direct coombs test, normal osmotic fragility, and autohemolysis test. He has had intermittent proteinuria since 3 years ago despite normal creatinine level and absence of hematuria or hypertension. Finally, based on low level of serum B12 vitamin and normal folate level accompanied by asymptomatic proteinuria, the diagnosis of IGS was made. Furthermore, his sister has had laboratory abnormalities without any symptoms. IGS responded to B12 replacement therapy dramatically but intermittent proteinuria persisted even after appropriate therapy.

Acute lymphocytic leukemia (ALL) is one of the frequent malignancies in pediatrics and involves bone marrow and extramedullary sites. Proptosis as extramedullary involvement of leukemia usually present in acute and chronic myeloid leukemia. It is extremely rare for ALL to present initially as proptosis.Here, a-21-month-old boy was presented with proptosis without any associated symptoms except lymphadenopathy. He was referred with the impression of malignancy from an ophthalmologist. After bone marrow biopsy which showed 33% blast cells, all positive for CD10, CD19, and CD79, the diagnosis of pre-B cell ALL was finally made. His symptoms were improved completely 16 days after starting standard protocol for ALL.Afterone-year follow-up, he was free of any symptoms.According to this initial presentation of ALL and no typical associated symptoms, it is important to make rapid diagnosis and start the treatment in the childhood.

Hemophagocytic lymphohistiocytosis (HLH) is a severe life-threatening disorder, characterized by hyperactivation of macrophages. A 12-year-old female was referred to our center; the diagnosis of HLH was made for the patient and immunosuppressive regimen was started. After a 2-year follow-up, the patient developed secondary T-cell acute lymphoblastic leukemia (T-ALL), confirmed by flow cytometric studies. Treatment was started based on T-ALL protocol, but the patient died because of relapse and sepsis. This case highlights the issue of secondary malignancy following HLH and demonstrates the need for continued follow-up in such patients.

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