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Essential thrombocythemia is a rare myeloproliferative disorder in pediatrics. This myeloproliferative disorder is charactherized by thrombocytosis and hyperplasia of megakaryocytes in the bone marrow. Other cell lines are not involved.JAK2V617Fmutations has been identified in approximately half the patients with this disorder. We describe a 12-year-old boy with essential throbocythemia. The patient had a persistent thrombocytosis over 600x109 /L and the time of diagnosis, his platelet count ranged between 900x109and 2150x109/L. Megakaryocytes in the bone marrow were increased in number.The chromosomal analysis was normal and bcr/abl rearrangement was negative. He remained asymptomatic throughout the follow-up period.

Background: Genetic risk factors are implicated in the etiology and pathogenesis of immune thrombocytopenic purpura (ITP). Platelet endothelial aggregation receptor 1 (PEAR1) plays an important role in regulating megakaryopoiesis and thrombopoiesis. rs12041331 and rs12566888 single-nucleotide polymorphisms of PEAR1 are associated with megakaryocyte differentiation and platelet function. Materials and Methods: To conduct this study, 68 peripheral blood samples of patients with ITP (56 acute and 12 chronic) were collected. The amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was used to detection of rs12041331 and rs12566888 PEAR1 polymorphisms. Results: Statistically significant differences were not seen between rs12041331 and rs12566888 genotypes in acute and chronic groups (P = 0.778, P = 0.844). The frequency of rs12041331 AG/AA genotypes and the rs12566888 GT genotype was more in acute ITP patients; on the other hand, the rs12566888 TT genotype was more in the chronic group. The highest platelet counts and platelet distribution width (PDW) were related to the rs12041331 AG allele. GT and TT of rs12566888 had more PDW and platelet count, respectively. Mean platelet volume values between alleles of both the polymorphisms were constant and did not differ much. In general, no statistically significant differences were observed between genotypes of polymorphisms and platelet parameters. Conclusions: There was no association between rs12041331 and rs12566888 with platelet parameters in ITP patients and the severity of this disease. Further investigation with a larger size is recommended. [ABSTRACT FROM AUTHOR]

Context: Immune thrombocytopenia (ITP) is an autoimmune disease that is caused by the dysregulation of immune system, in which the circulating platelets (Plt) are destroyed by reticuloendothelial system, leading to hemorrhagic manifestations in patients. Aims: Recent studies have indicated that polymorphisms can contribute to ITP susceptibility and outcome. Given the importance of follicular helper T (Tfh) cells in ITP, we evaluated polymorphism in Inducible T-cell Costimulator (ICOS) as a Tfh surface marker among ITP patients to find a likely prognostic factor. Subjects and Methods: We recruited 54 ITP patients and 46 persons with no history of thrombocytopenia to conduct this case–control study. In addition to routine laboratory parameters, three polymorphisms, namely rs10932036, rs4404254, and rs10932037 of ICOS gene, were assessed by polymerase chain reaction. Statistical Analysis: Mann–Whitney, Kruskal–Wallis, and Chi-square tests were employed to compare and evaluate the data, and P < 0.05 indicated a statistically significant association. Results: The findings of our study showed that allele and genotype frequencies of all three polymorphisms in question were similar between case and control with no significant difference. However, our assessment indicated higher mean Plt counts in RS4404254 CC genotype than other genotypes under investigation. Conclusions: It seems that rs10932037, rs4404254, and rs10932036 polymorphisms of ICOS gene are not involved in susceptibility to ITP. Nevertheless, we found that those carrying RS4404254CC polymorphism have better prognosis due to higher Plt counts both in acute and chronic ITP patients. [ABSTRACT FROM AUTHOR]

Wilms' tumor is common in children and is caused by Wilms' tumor gene 1 (WT1). The WT1 mutation has been reported in a variety of hematologic malignancies. Changing expression of miRNA molecules has also been shown to play a role in the development of Wilms' tumor. Considering the fact that WT1 can be used as a clinical biomarker in leukemia cases, it can be a basis for immunotherapy of leukemia. WT1 is a gene that can be used as a prognostic biomarker for minimal residual disease, as well as the detection of relapse for clinical remission in leukemia. Furthermore, it can be considered as a predictive biomarker for the treatment of leukemic patients after allogeneic transplantation. This study aimed to review WT1 expression in leukemia, its involvement in miRNAs expression, as well as its importance in prognosis and treatment of leukemia. [ABSTRACT FROM AUTHOR]

Background: Acute lymphoblastic leukemia (ALL) is a malignant disorder of lymphoid progenitor cells that affects both children and adults. B-lineage acute lymphoblastic leukemia (B-ALL) that derived from primary B cell precursors is acommonsubtype of ALL. PAX5 is a member of PAX gene family. This gene is located at 9p13.2, encoding the B-cell lineage specific activator protein (BSAP). BSAP is an essential regulator of B lymphocytes identity and function which plays an important role in part of B cell specific genes. Objectives: The aim of this study is to screen probable variants in flanking regions of introns 1 and 2 near the exons 1, 2 and 3 of PAX5 gene among B-ALL patients from Khuzestan province. Patients and Methods: In this descriptive study, blood samples were collected from 50 patients with clinical symptoms of B-ALL in Khuzestan province. In order to identify the probable variants in introns 1 and 2 near the exons 1, 2 and 3 of PAX5 gene, flanking regions of introns amplified by PCR and the products were sequenced for any probable change. Results: Two variants in nine patients were identified including IVS2-43T > C and IVS2 + 11T > G. IVS2-43T > C variant was found as a heterozygous form in one patient and IVS2 + 11T > G was found as a homozygous variant in 8 patients with B-ALL. Conclusions: The overall frequency of variants in intron 2 of PAX5 gene was 18%. IVS2 + 11T > G variant of PAX5 gene probably do not associated with B-ALL risk in the population. [ABSTRACT FROM AUTHOR]

Objective Bone marrow (BM) niche is a three-dimensional structure composed of a series of cells and it is one of the most controversial topics in hematological malignancies, leukemia, and even metastasis. Here, we review the relationship between Notch signaling and different fates of stem cells and other BM niche cells. Methods Relevant English-language literature were searched and retrieved from PubMed (2000–2013) using the terms Notch signaling, BM niche, and microRNAs (miRNAs). Discussion Notch signaling pathway is a signaling system involved in cellular processes such as proliferation, differentiation, and apoptosis. The notch signaling pathway components are associated with interaction between leukemic, metastatic, and normal cells and their microenvironment. miRNAs play an important role in expression and regulation of signaling molecules. It is necessary to evaluate the relationship between aberrant miRNA expression and notch signaling such as miR-128 and miR-30 in glioma and angiogenesis with notch signaling, respectively. Conclusions Characterizing malignant cells and future studies focus on better understanding the variety of cancers and apoptosis with activated Notch signaling pathway, may remain promising this signaling system as a safe and effective therapeutic target. [ABSTRACT FROM AUTHOR]

Introduction: Acute leukemia is the most common malignancy in children and acute lymphoblastic leukemia (ALL) accounts for 75% of acute leukemia cases. New treatment protocols have resulted incomplete remission rates up to nearly 100% in children with acute lymphoblastic leukemia. Today, one of the most important prognostic factors in acute lymphoblastic leukemia is intensity of the treatment. Risk stratification is accomplished based on clinical, morphological, immune-phenotypic and cytogenetic findings. The aim of this study was to determine some prognostic factors in children with acute lymphoblastic leukemia. Methods: In this retrospective study information about age at onset of acute leukemia, sex, initial white blood cell count, FAB-subtype, immunophenotype, and clinical course of newly diagnosed acute lymphoblastic leukemia were extracted from medical records of children admitted to pediatric oncology department of ShafaHospital between- 2011and2012. Results: There were 21 male patients (51.2%) and 20 were female patients (48.8%). The mean age was 4.2 ± 6.34 years, and 24 patients (58.5%) had Arab origins, while 17 patients (41.5%) were of non-Arab ethnicity. Age distribution showed higher incidence of ALL in younger children: 1-4 years 47.5%, 5-9 years 27.5% and 25% in patients >10 years.L2 subtype was more common in our patients 51.2% while L1 subtype was reported 46.3%.Only one patient was reported to be L3 subtype (2.4%), yet we did not detect any significant relation between different age groups and trend for incidence for specific subtype. The number of white blood cell (WBC) at the time of admission was reported as: less than 10,000 cells/cm in 30%, between11-50,000 in 37.5% and >50,000 in 32.5% patients. Organ involvement was present in 47.5%, and central nervous involvement, (proved by positive malignant cells in CSF fluid) was detected in 4.9% of our patients. In our study, HLA-DR was 62.5% in ALL patients and CD 20 and CD19 was the most common marker in these patients. In our work the most common markers in L1, which was found in 19 patients were reported CD 19, CD33, CD22,CD35, CD20 and CD9. Also the percentage of markers in L2 subtype had a similarity to L1 group. Conclusion: Conclusion: In this study, FAB-subtype L1 was less than previous studies, while FAB-subtype L2 and pre-B cell immunophenotype was more common than previous studies. Other results were the same as reported in older studies. [ABSTRACT FROM AUTHOR]

Background: Immune thrombocytopenic purpura (ITP) is an autoimmune disease that can cause bleeding disorders in patients, and presents in acute and chronic forms. The acute form is frequently seen in children, but the chronic form mainly inflicts adults. There are differences and similarities in clinical and laboratory findings of the disease between children and adults. We study these differences and similarities in these two groups of patients with ITP. Methods: In this study, we retrospectively evaluated the clinical and laboratory data of 323 ITP cases within three years. None of our patients had a history of thrombocytopenia. Patients were classified into two groups of children (3 months to 16 years of age) and adults (⩾ 16 years). Data analysis was conducted using SPSS software, and the analysis results were compared between the two age groups. Results: Overall, the disease prevalence was higher in women than men, but the prevalence of childhood ITP was higher in males than females. The prevalence of initial symptoms including petechiae, purpura and ecchymosis was 60.5% and 61%, respectively in all patients, but severe bleeding rarely occurred in patients (28.8%). 30.5% of patients had a history of infection before developing ITP, and the children had a higher frequency of infection (80.8%). Before treatment, the mean platelet count in adults and children was 33000/μL and 35000/μL, respectively. Conclusion: Comparison of data in children and adults with ITP indicated similarities and differences in clinical and laboratory findings between the two groups with differences in prevalence, bleeding symptoms, initial platelet count and infection history. [ABSTRACT FROM AUTHOR]