Pediatric cancer poses a growing public health challenge, particularly in low- and middle-income countries. While advances in diagnostics and multimodal treatments have improved survival rates, treatment-related complications-especially malnutrition-remain a critical concern. Malnutrition, encompassing both undernutrition and overnutrition, affects up to 70% of children undergoing cancer therapy and significantly impacts treatment outcomes, quality of life, and survival. The nutritional status of pediatric cancer patients is influenced by tumor-related metabolic demands, treatment side effects, and socioeconomic factors. Chemotherapy, radiotherapy, and surgery often lead to anorexia, vomiting, mucositis, and metabolic disturbances that reduce nutrient intake and alter body composition. These changes may result in impaired immunity, organ dysfunction, increased infection risk, and altered pharmacokinetics of chemotherapeutic agents. Both undernutrition and obesity are independently associated with increased treatment-related toxicity and reduced survival, particularly in solid tumors and lymphomas. Biologically, cancer alters systemic metabolism through mechanisms like increased glycolysis (Warburg effect), where tumor cells preferentially convert glucose to lactate-even in the presence of oxygen-leading to inefficient energy use and muscle catabolism. Additionally, cytokines (e.g., IL-6, TNF-α) and tumor-derived catabolic factors (e.g., PIF, LMF) accelerate lipolysis and proteolysis, depleting fat and lean mass. This metabolic derangement contributes to cancer cachexia and protein-energy malnutrition, especially in children with advanced disease. Micronutrient deficiencies-particularly in vitamins D, C, B12, zinc, and selenium-are also highly prevalent and further compromise immune and metabolic function. Though data on supplementation outcomes remain inconclusive, routine screening and correction are recommended. Moreover, emerging evidence suggests that specific nutrients-such as omega-3 fatty acids-may provide additional therapeutic benefits by modulating inflammation and preserving lean body mass. Ultimately, a proactive and personalized nutritional approach is critical to improving treatment outcomes, reducing complications, and enhancing the overall well-being of children with cancer. Future studies should further be done in this regard.
Immune thrombocytopenic purpura (ITP) is one of the autoimmune disorders characterized by isolated thrombocytopenia due to immune-mediated platelet destruction. The pathogenesis of ITP is complex, involving autoantibodies against platelet glycoproteins (GPIIb/IIIa, GPIb/IX), excessive T helper1, T helper10, Thelper17 (TH1-TH0-TH17) polarization, Treg cell deficiency, and cytotoxic destruction of platelets. Cytotoxic CD8+ T-cell-mediated platelet lysis is evidenced by perforin/granzyme release in bone marrow biopsies. The diagnosis is based on excluding the other causes of thrombocytopenia, often following common viral infections. Immune thrombocytopenia can be categorized into primary and secondary groups. Secondary immune thrombocytopenia is linked with inborn errors of immunity (IEI). These errors are heterogeneous disorders with extensive clinical presentations, ranging from recurrent infections to immune dysregulation and autoimmunity. Studies have showed that autoimmune disorders are common manifestations among patients with IEI. Approximately 25-33% of IEI patients have autoimmunity disorders, including ITP, with ~20% of chronic ITP and 40% of pediatric Evans syndrome. Sometimes, patients with ITP may progress to primary immunodeficiency in the future because they may have an undiagnosed underlying IEI. Furthermore, the evaluation of patients with ITP for possible IEI, based on a history of recurrent infections and physical examinations, is essential. The prevalence of ITP is 16.2% in common variable immunodeficiency (CVID), 72% in Wiskott Aldrich syndrome (WAS), and high in autoimmune lymphoproliferative syndrome (ALPS) and LPS-responsive beige-like anchor (LRBA) / cytotoxic T-lymphocyte associated protein 4 (CTLA-4) deficiencies. IEI-associated ITP is often severe, chronic, and refractory, thus increasing morbidity. The treatments include corticosteroids, intravenous immunoglobulin (IVIG), rituximab, and targeted therapies like sirolimus. Recent studies highlight the genetic defects (e.g., FAS, CTLA4) that drive ITP, enabling precision medicine. This review study explains the recent advances in IEI-associated ITP, focusing on clinical features, pathogenesis, prevalence, and management. It also emphasizes early IEI screening for improved outcomes.
Background: Helicobacter pylori (H. pylori) is a primary contributor to chronic gastritis in children, leading to both local and systemic inflammatory responses. Although endoscopic and histopathologic evaluations are the diagnostic standards, they are invasive and costly. Recently, hematologic indices such as the neutrophil-to-lymphocyte ratio (NLR) and mean platelet volume (MPV) have been proposed as simple, accessible markers of systemic inflammation. However, previous studies assessing their association with H. pylori infection in pediatric gastritis have reported inconsistent findings. Therefore, the aim of this study was the assessment of MPV and NLR in pediatric gastritis and relation to helicobacter pylori Infection. Materials and Methods: This cross-sectional study was conducted on children aged 1-17 years with gastrointestinal symptoms were candidates for endoscopy at the Gastroenterology Clinic of Amirkola Children's Hospital. Gastric tissue samples were collected via biopsy and examined histopathologically, and H. pylori infection was confirmed using Giemsa staining. In addition, complete blood count (CBC) tests were performed for NLR and MPV measurements. Results: The study included 126 children (mean age 10.03 +/- 2.51 years). H. pylori infection was significantly associated with both endoscopic (p = 0.001) and histopathologic gastritis (p = 0.011). No significant differences were observed in NLR or MPV between H. pylori-positive and H. pylori-negative groups (p = 0.990 and p = 0.459, respectively). Similarly, NLR and MPV did not differ significantly according to the presence of histopathologic (p = 0.874 and p = 0.891, respectively) or endoscopic gastritis (p = 0.667 and p = 0.103). Conclusion: H. pylori infection was significantly associated with endoscopic and histopathologic gastritis in children, highlighting its central role in pediatric gastritis. However, NLR and MPV showed no significant differences according to H. pylori infection or gastritis status, indicating limited diagnostic utility of these hematologic markers.
Background: Oral mucositis (OM) is a common chemotherapy complication in children, linked to oxidative stress. The aim of the study was to evaluate the efficacy of oral N-acetylcysteine (NAC) compared to placebo in children with malignancy at risk of mucositis induced by chemotherapy. Materials and Methods: The double-blind randomized controlled trial was performed on 80 children hospitalized in the oncology departments of Shahid Baghaei and Abuzar hospitals in Ahvaz, Iran. The patients were randomly assigned to NAC and placebo groups using a four-block randomization method. The NAC group received oral NAC (20-25 mg/kg on day 1, then 10-15 mg/kg daily for 14 days), while the control group received placebo. The outcomes included OM severity, fever duration, hospital stay, serum malondialdehyde (MDA), and adverse effects. Results: The rate of no mucositis (grade 0) was higher in the NAC group (72.5% vs. 47.5%, P = 0.030), while severe mucositis (grade 3) occurred only in the control group (10% vs. 0%, P = 0.030). The duration of fever in the NAC and the control groups was 1.63 f 2.04 and 3.68 f 4.77 days, respectively (P = 0.016). The hospital stays in the NAC and control groups were significantly different (4.55 f 1.01 vs. 5.8 f 1.22, P = 0.001). The level of MDA on the seventh day was significantly different between the two groups (4.73 f 0.36 & micro;mol/L in the NAC group vs. 8.89 f 0.26 & micro;mol/L in the control group, P < 0.001). The level of MDA on the fifteenth day in the NAC and control groups was 2.76 f 0.31 and 6.06 f 0.23 & micro;mol/L, respectively (P < 0.001). Conclusion: Given its role in reducing the severity of chemotherapy-induced mucositis, NAC may serve as an effective adjunct in pediatric oncology care alongside standard oral and dental hygiene measures.
Background: Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy. Survival outcomes are significantly higher in high-thiess to diagnostics and standardized therapy contributes to poor prognosis. This study evaluated survival patterns and prognostic indicators in pediatric ALL patients treated at a tertiary care center in Bangladesh. Materials and Methods: A retrospective cohort of 36 pediatric ALL patients treated between March 2016 and March 2024 was analyzed. Overall survival (OS) and event-free survival (EFS) were estimated using the Kaplan-Meier method. Prognostic indicators included age, white blood cell count, minimal residual disease (MRD) status, CD20 expression, risk classification, and Day 8 steroid response. Associations with MRD clearance were tested using Fisher's exact and Mann-Whitney U tests. Risk differences with 95% confidence intervals were calculated for subgroup comparisons. Results: MRD clearance (<0.01%) at the predefined analytic endpoint was achieved in 66.7% of patients. Clearance was more frequent in standard-risk than high-risk patients (85.71% vs. 40.00%; risk difference: 45.71%, 95% CI: 7.60-83.80; p = 0.032) and in CD20-negative compared to CD20-positive patients (86.67% vs. 52.38%; risk difference: 34.33%, 95% CI: 8.60-60.00; p = 0.040). No significant associations were found with initial blast count or steroid response. The 3and 5-year Kaplan-Meier-adjusted OS and EFS were both 96.55% (95% CI: 77.95-99.51%). One non-relapse death due to infection was recorded. Conclusion: This study demonstrates favorable survival outcomes among ALL patients at Evercare Hospital pediatric in Bangladesh who completed standardized therapy. MRD clearance was significantly associated with risk classification and CD20 expression, underscoring its utility in risk stratification. Larger, prospective multicenter studies are required to validate these findings and guide treatment strategies in resource-limited settings.
Background: Carcinogenesis is associated with the dysregulated expression of small nucleolar RNAs (snoRNAs). However, their specific expression profiles and clinical implications in hematologic malignancies remain limited. This systematic review aims to evaluate the role of snoRNAs as potential diagnostic and prognostic biomarkers and to assess their utility in monitoring treatment responses in hematologic cancers. Materials and Methods: A systematic review was conducted following PRISMA guidelines. The protocol was registered in PROSPERO (CRD42024574222). Relevant data regarding study characteristics, cancer subtypes, specimen types, sample sizes, methodologies, and clinical outcomes were extracted. The quality of the studies and risk of bias were independently assessed using the Newcastle-Ottawa Scale (NOS), with discrepancies resolved through consensus. Results: From an initial pool of 783 records, 12 studies met the inclusion criteria, highlighting the novelty of this research field. Despite the limited number of studies, the analysis identified 133 distinct snoRNAs with complex roles in the pathogenesis of hematologic malignancies. Dysregulated snoRNA expression was found to significantly influence critical cellular functions, including proliferation, invasion, and apoptosis. Furthermore, aberrant snoRNA levels showed a strong association with prognostic outcomes, particularly overall survival in multiple myeloma (MM) and chronic lymphocytic leukemia (CLL). Conclusion: This review emphasizes the emerging significance of snoRNAs as promising biomarkers for diagnosis, prognosis, and therapeutic monitoring. The limited available data, compared with miRNAs and lncRNAs, highlight a significant knowledge gap. Nonetheless, current evidence suggests that snoRNAs offer distinct advantages, including greater molecular stability and higher specificity. While challenges such as incomplete functional characterization and limited clinical validation persist, this first systematic examination emphasizes the potential of snoRNAs to complement existing RNA-based biomarkers. Current findings highlight the need for more extensive research to fully utilize their diagnostic and therapeutic value in precision oncology.
Background: Leukemia classification based on gene expression data is a challenging problem due to the high dimensionality of microarray datasets and the limited number of patient samples. Identifying a small subset of informative genes (biomarkers) that can accurately distinguish between acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) is essential for improving diagnostic accuracy and supporting precision medicine approaches. Materials and Methods: Inthis methodological study, an adaptive structure learning framework is proposed for biomarker discovery using the Golub Leukemia Dataset. The proposed method jointly integrates adaptive similarity structure learning, sparse feature selection, and sample reweighting into a unified optimization model. This framework learns both the intrinsic geometric structure of the data and the most discriminative gene subset simultaneously. The selected genes were evaluated using two classifiers, including k-nearest neighbor (KNN) and support vector machine (SVM). Results: Experimental results show that the proposed method achieves 97.06% classification accuracy using KNN with 8 selected genes and 100% accuracy using SVM with only 7 genes. Comparative analysis with existing feature selection methods demonstrates that the proposed approach achieves superior or competitive performance while using a significantly smaller number of genes. Conclusion: The proposed framework effectively identifies compact and highly discriminative biomarker sets for leukemia classification. By jointly modeling sample relationships and gene relevance, the method improves classification performance while reducing feature dimensionality. The results suggest that the proposed framework has potential applications in clinical decision-support systems and other high-dimensional biomedical classification problems.
Background: Splenomegaly and hypersplenism are common complications in thalassemia that may require splenectomy. Although total splenectomy (TS) effectively improves hematologic parameters, it is associated with increased risks of infection and thrombosis. Partial splenectomy (PS) has been proposed as a spleen-preserving alternative to reduce these complications. This study compares the clinical outcomes of PS and TS in patients with thalassemia. Materials and Methods: In this retrospective study, 74 thalassemia patients who underwent splenectomy from 2011 to 2018 were analyzed (median follow-up: 4 years). Twenty-five patients (33.8%) underwent PS, and 49 (66.2%) underwent TS. The outcomes, including hematologic improvement, transfusion intervals, incidence of diabetes mellitus, thrombotic events, and infection-related complications, were compared between the groups. The results were analyzed using an independent t-test, Fisher's exact test, and logistic regression. Results: In this study, both PS and TS groups showed significant post-operative improvements in hemoglobin levels (P < 0.0001). However, complications varied notably between the two groups. Diabetes mellitus developed in 12 patients (16.2% overall); only one case (4%) occurred in the PS group, while 11 cases (22.4%) were observed in the TS group. This corresponded to a significantly higher odds of diabetes after total splenectomy (OR = 6.9; 95% CI: 0.22-32.22; P = 0.04). The wide confidence interval reflects the small number of events, particularly in the PS group. Moreover, 13 cases of infection were observed exclusively in the TS group. Conclusion: Partial splenectomy may serve as a safer alternative to total splenectomy in thalassemia patients, providing hematologic benefits while reducing the risk of infectious and metabolic complications. Further prospective studies are warranted to validate this finding.
Background: Retroperitoneal tumors (RPTs) are rare and heterogeneous neoplasms that show distinct biological and clinical features across age groups. This study aimed to assess the clinicopathological characteristics of RPTs in pediatric and adult patients. Materials and Methods: This retrospective cohort study included patients diagnosed with RPTs from 2016 to 2021. The clinical data, histopathological findings, and outcomes were reviewed and compared between the children (< 18 years) and adults (>= 18 years). Statistical analyses were performed using chi-square and Fisher's exact tests, independent t-tests, Kaplan-Meier survival analysis, and Firth's penalized logistic regression. Results: Among 109 patients, 14 (12.8%) were children and 95 (87.2%) were adults. Metastatic tumors were the most common lesion type (72.5%), followed by primary malignant (21.1%) and benign tumors (6.4%). Metastatic tumors were the predominant histopathological category (72.5%), followed by primary malignant mesenchymal tumors (16.5%). Histopathological distributions were similar between children and adults, with no significant differences observed across categories (all p>0.05). Overall survival was similar between children and adults (p=0.35). Abdominal pain was the most common symptom (51.4%), while nausea occurred more frequently in children (p=0.01). Firth's penalized logistic regression identified no significant associations between clinicopathological factors and recurrence or necrosis (all p>0.05). Conclusion: Metastatic tumors predominated in both age groups, followed by primary malignant mesenchymal tumors. No significant age-related differences were observed in histopathological categories, tumor origin, or survival.
Background: Pilocytic astrocytoma (PA) is the most common primary astroglial neoplasm in children and adolescents. Massive calcification is a rare feature of PA and may complicate radiologic and pathologic diagnosis. Herein, we report a case of PA with extensive microcalcification in western Iran. Case Presentation: A 12-year-old boy presented with a two-year history of headache and vomiting that had worsened during the previous 15 days. Physical examination revealed a conscious and hemodynamically stable patient with no focal neurologic deficits. Histopathologic examination demonstrated a fascicular and microcystic tumor composed of cells with oval to spindle-shaped nuclei and bipolar cytoplasmic processes within a fibrillary matrix. Hyalinized arborizing ectatic vessels, Rosenthal fibers, and extensive areas of microcalcification were also identified. Conclusion: Calcification is an uncommon feature of PAs and may create diagnostic challenges for radiologists and pathologists. Calcified PAs may occur at any age, with an approximately equal male-to-female ratio. Headache, vomiting, seizures, and visual disturbances are among the most common presenting symptoms in patients with calcified PA.
Background: Dihydropyrano[3,2-c]chromenes are oxygen-containing heterocycles with reported anticancer potential, yet green and efficient synthetic methods remain limited. Conventional catalysts often involve harsh conditions or low reusability. This study aimed to develop a sustainable, high-yield synthesis of chromenes via a novel acid-based nanocatalyst (GO/3-aminopyridine), and to evaluate the cytotoxicity of selected derivatives against cancer and normal cells. Materials and Methods: In this in vitro experimental study, we performed a one-pot, three-component reaction of 4-hydroxycoumarin, malononitrile or ethyl cyanoacetate, and aromatic aldehydes in the presence of 3-aminopyridine-functionalized graphene oxide (GO/3-APy) under mild conditions (EtOH/H2O, 50 degrees C). The structure of the catalyst and products were confirmed via FT-IR, NMR, XRD, FE-SEM, and EDS. MTT assay was used to determine IC50 values for selected compounds against Ovcar3, T47D, CA46, and HFF cell lines. Doxorubicin served as a positive control. Statistical analyses were done by SPSS (Version 22.0). ANOVA test was performed to identify significant differences in IC50 values across all tested compounds and doxorubicin. P-value < 0.05 was considered significant. Results: Compound 4b exhibited potent cytotoxicity against Ovcar3 (IC50 = 14.67 +/- 1.15 mu g/mL), T47D (26.85 +/- 2.10 mu g/mL), and CA46 (27.17 +/- 1.55 mu g/mL) cells, significantly surpassing doxorubicin against CA46 (46.07 +/- 2.80 mu g/mL; p < 0.05). Compound 4d showed comparable activity (IC50 = 17.99 +/- 1.42, 29.50 +/- 1.85, and 56.62 +/- 2.90 mu g/mL, respectively) with high selectivity for cancer cells over normal HFF (IC50 = 239.25 +/- 5.50 mu g/mL; selectivity index similar to 13). Compounds 4e, 4g, and 4h demonstrated moderate cytotoxicity (IC50 = 33.50-141.52 mu g/mL), while doxorubicin displayed non-selective toxicity toward normal cells (IC50 = 50.45 +/- 2.90 mu g/mL vs. 239.25 mu g/mL for 4d). Conclusion: The results of our research showed that dihydropyrano[3,2-c]chromene derivatives showed anticancer effects that depended on the type of substitution present on the ring in their structure.
Background: Beta-thalassemia major (beta-TM) is a transfusion-dependent disorder associated with iron overload and endothelial dysfunction. Endocan is a proteoglycan secreted by endothelial cells and has been proposed as an indicator of endothelial activation and inflammation. Children with beta-TM face various problems, such as glomerular and tubular degeneration, cardiomyopathy, and endothelial damage, which require regular monitoring using a reliable and practical method. This study aimed to evaluate plasma endocan levels in Egyptian children with beta-TM. Materials and Methods: A case-control study was conducted at the Medical Research Institute, Alexandria University. The experimental group consisted of 40 children with transfusion-dependent beta-TM who were aged between 12 and 16 years, and the control group involved 40 age- and gender-matched healthy children. Clinical assessments and laboratory tests, including hemoglobin, serum ferritin, and C-reactive protein, were performed. Plasma endocan levels were measured using enzyme-linked immunosorbent assay (ELISA). Data were analyzed using SPSS version 20. Appropriate parametric or non-parametric tests, based on data distribution, were applied, and a p value of < 0.05 was considered statistically significant. Results: Children with beta-TM had significantly higher plasma endocan levels than controls (median 332 vs. 44 ng/L, p < 0.001). Endocan levels did not significantly differ based on gender (p = 0.575) or splenectomy status (p = 0.986). A significant difference was observed between hepatitis C virus (HCV)-negative and HCV-positive cases (p = 0.005), with higher endocan levels in HCV-positive patients. No significant correlation was found between endocan levels and age, ferritin, or transfusion frequency (p> 0.05). Conclusion: Children with transfusion-dependent beta-TM exhibited significantly higher plasma endocan levels, as compared to the healthy controls. Endocan can serve as a potential non-invasive biomarker of endothelial dysfunction in pediatric thalassemia.
Background: Machine Learning (ML) is a technique currently used to predict, diagnose, and treat diseases. Acute Lymphoblastic Leukemia (ALL) is the most common cancer among pediatric patients. A frequent complication in children with ALL is anemia, which leads to the need for recurrent blood transfusions. This, in turn, can result in increased Liver Iron Concentration (LIC). Currently, diagnosing LIC is performed using T2* MRI techniques; however, due to the limitations of MRI, employing ML techniques to predict LIC has become necessary. Materials and Methods: In this retrospective cohort study, a collection of datasets was obtained from 66 children (mean age = 10.7 year) diagnosed with ALL, and three ML models were used, including Random Forest Classifier (RFC), Support Vector Classifier (SVC), and Logistic Regression (LR). Given the small sample size, a preprocessing step including feature standardization and SMOTE oversampling was taken only within the training datasets during cross-validation to prevent data leakage. Results: Among the evaluated models, LR achieved the highest precision-recall (PR) Area Under the Curve (AUC) and receiver operating characteristic (ROC) AUC values (test PR AUC = 0.94, p-value = 0.002; CV PR AUC = 0.98 p-value < 0.001; test ROC AUC = 0.98, p-value = 0.002; CV ROC AUC = 0.98, p-value < 0.001). The permutation feature importance identified serum ferritin (SF) and transfusion volume per kilogram (TV/Kg) as the dominant predictors of LIC. Conclusion: This study indicates that ML models are promising ones for predicting LIC. However, due to the limited sample size, future studies with larger cohorts are warranted to validate these findings.
Thrombotic Thrombocytopenic purpura (TTP) is the thrombotic microangiopathy (TMA) caused by the severely reduced activity of the von Willebrand factor-cleaving protease ADAMTS13. The deficiency occurs in two main forms, acquired (antibodymediated) and inherited. Plasma exchange is the mainstay of the disease management; however, Caplacizumab, glucocorticoids, rituximab, and other immunosuppressive drugs may be added to the management protocol, particularly in refractory cases. Thrombopoietic drugs are a known therapy for idiopathic thrombocytopenia purpura (ITP). No studies have been reported so far on the effects of these drugs on the patients with TTP. In this case report, we report the treatment of a 17-year-old female with hereditary TTP and dramatically good response to romiplostim (Nplate) in a one-year follow-up without an increase in the ADAMTS13 level and thrombotic complications.
Background: Fanconi anaemia (FA) is the most common cause of constitutional bone marrow failure. The pathophysiology of this disease is highly complex and still unclear. It is caused by a mutation/pathogenic variant in any of the 22 complementation groups that work together in the DNA damage repair mechanism. Approximately three-fourths of FA cases are due to defects in the FANCA gene. This study investigates the molecular and clinicopathological profiles of FA patients. Materials and Methods: This prospective observational study screened 780 aplastic anaemia patients using chromosomal breakage analysis, and the results were positive for 60 patients, therefore labeled as FA. Baseline biodata and clinical and laboratory parameters were recorded via a questionnaire. In this study, Samples from the first 50 patients were screened for c.378803790delTCT through PCR RFLP, which revealed its presence in one patient. Ten additional samples were also screened via next-generation sequencing (NGS) for broader genetic analysis. Results: The median age of the patients was 11.5 years (IQR 5 years), with the majority (68%) of the participants being male. Growth retardation and pancytopenia were present in 98.3% and 95% patients, respectively. A total of 20 variants were detected (2 via RFLP and 18 via NGS). Seventeen were pathogenic variants, of which 16 (80%) affected FANCA and 20% affected FANCG. Twelve variants (74%) in FANCA were deletions. c.3788-3790delTCT was detected in 3 out of 60 patients (1 through RFLP and the other 2 through NGS). Conclusion: FA is a clinically and genetically heterogeneous disease. Patients presenting with cytopenia combined with growth retardation and somatic abnormalities should be suspected of having FA. Genetic diagnosis is necessary for confirmation. NGS can aid in the diagnosis and subtyping of patients in whom targeted/hotspot mutations are unknown.
Background: Leukemia is the most common childhood malignancy. Understanding its clinical manifestations and laboratory findings in different regions is essential for early detection and timely management. Despite limited exhaustive studies in central Iran, this study provides a comprehensive analysis of the clinical and laboratory data collected in Yazd Province over a ten-year period. Materials and Methods: This retrospective descriptive study analyzed 378 children under 15 diagnosed with leukemia at Shahid Sadoughi Hospital between 2014 and 2023. Data included demographics, clinical symptoms, and blood counts. Statistical analysis was done using SPSS v20 with Chi-square and ANOVA tests, considering P < 0.05 as significant. Results: This study included 213 males (56.6%) and 165 females (43.7%)(M: F =1.29:1), with a mean diagnostic age of 5.42 +/- 3.85 years; 61.4% were <= 5 years old. Acute lymphoblastic leukemia (ALL) was the predominant subtype (89.7%). Fever (46%), bone pain (27.5%), and weakness/lethargy (26.2%) were the most common clinical manifestations. The subtype analysis revealed that ecchymosis and respiratory symptoms were significantly more frequent in patients with acute myeloid leukemia (AML) than in patients ALL (30.3% vs. 14.1%, P = 0.03; and 21.2% vs. 7.1%, P = 0.01, respectively), while weight loss was highest in chronic myelogenous leukemia (CML) (40%, P = 0.03). Hematologic abnormalities included anemia (85.4%), thrombocytopenia (59.2%), and hyper leukocytosis (17.2%). Median WBC was higher in CML (31 mm3), whereas median lymphocyte percentages were higher in ALL (60 %). Males also had higher RBC counts (P = 0.039). Conclusion: The findings confirm that ALL is the predominant leukemia in this population. The disease often presents with nonspecific systemic symptoms, highlighting the critical role of complete blood count as an essential screening tool for early diagnosis. Recognizing these patterns may support earlier referral, diagnosis, and initiation of appropriate treatment.
Background: Acute lymphoblastic leukemia (ALL) is among the most common cancers in children, which leads to the death of many patients. ALL patients include new cases and the relapsed ones. The common genes between these two conditions can largely help in managing patients and preventing future relapses. Therefore, this study investigated the genes and molecular pathways between the two conditions using bioinformatics. Materials and Methods: In this bioinformatic study, GSE102301 database was used. After determining differentially expressed genes (DEGs), gene ontology (GO) and the related Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways were analyzed (using GeneCodis4 software). Interactions between proteins were evaluated using STRING database and hub genes were identified based on the highest score. Finally, ROC curve analysis was used to determine the diagnostic value of hub genes. Results: Based on the interaction between DEGs, 10 genes were selected as hubs, which included WDR75, MYBBP1A, DDX10, URB1, HEATR1, NOP14, PUM3, VARS1, EARS2 and SYK |logFC| > 1 and p < 0.05. The results showed that all the hub genes had diagnostic value (AUC=1). Conclusion: Hub genes identified through bioinformatics analyses may serve as potential biomarkers; however, future studies need to examine these genes in clinical settings among the patients.
Background: Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. Despite major therapeutic advancements, relapse and treatment failure continue to be serious challenges, particularly in low- and middle-income countries. While several well-established prognostic factors such as age, white blood cell (WBC) count, cytogenetic abnormalities, minimal residual disease (MRD), and socioeconomic status (SES) have been validated in high-income regions, limited evidence is available from developing countries. Therefore, this study aimed to investigate the prognostic factors associated with relapse and mortality in children diagnosed with ALL in a developing country setting. Materials and Methods: This prospective cohort study included 130 children younger than 15 years with confirmed ALL admitted to a tertiary referral center from 2014 to 2020. Demographic, clinical, laboratory, MRD, genetic, and socioeconomic data were collected from the patients, and they were followed for up to 48 months after achieving remission. Univariate and multivariate Cox regression models were used to identify the independent predictors of relapse and mortality (significance threshold: p < 0.05). Results: The mean age of the participants was 4.76 ± 3.36 years, and relapse or death occurred in 31 (23.8%) of them. The univariate analysis showed that older age, MRD > 0.1% on day 33, and higher hemoglobin level were associated with relapse. The multivariate analysis identified MRD > 0.1% on day 33 as the only significant independent predictor of relapse. A survival analysis via a multivariate Cox-regression model also showed a lower income level (HR = 2.150, p = 0.033) associated with a higher mortality. Conclusion: This study reveals MRD on day 33 as the strongest determinant of relapse and highlights the critical role of socioeconomic disparities in mortality among children with ALL in developing countries. Early MRD-based risk stratification and policies aimed at bridging socioeconomic gaps may contribute to improved survival outcomes. Larger multicenter studies and extended molecular profiling are recommended.
Background: Aberrant immunophenotype, characterized by the expression of lineage-inappropriate antigens on leukemic blasts, is associated with early relapse and a poor survival rate in Acute Lymphoblastic Leukemia (ALL). Early relapse gives a bad prognosis for ALL. This study evaluated the association between aberrant immunophenotype and Overall Survival (OS) and Disease-Free Survival (DFS) up to 18 months following the diagnosis of ALL. Materials and Methods: A retrospective cohort study was conducted to identify aberrant immunophenotype in 156 patients under 18 years of age with ALL. In this study, done at a tertiary level hospital, OS and DFS were analyzed using the Kaplan-Meier method, the Breslow test and a Cox regression model, with hazard ratios to determine the variables associated with mortality and relapse over an 18-month follow-up period. Results: The mean age at diagnosis was 6.5 years, and 57% of the patients were male. Aberrant immunophenotype was expressed in 87 patients. After 18 months of follow-up, 41 patients had died. The CD123 antigen was mostly associated with relapses (p=0.010). CD66c and CD123 co-expression decreased OS (p=0.040) and DFS (p=0.003). The univariate analysis demonstrated that CD66c and CD123 co-expression (p=0.005), single CD123 expression (p=0.001), and positive Measurable Residual Disease (MRD) (p=0.001) increased the risk of relapse. In a multivariable analysis, only risk stratification and MRD remained as independent predictors of OS and DFS. Conclusion: CD66c and CD123 co-expression was associated with decreased OS and DFS and a higher risk of relapse. However, this association did not remain significant in the multivariate model, indicating that it is not an independent prognostic factor. Nonetheless, isolated CD123 expression was linked to positive MRD and an increased risk of relapse. These observations provide clinically relevant preliminary insights, particularly in settings with survival disparities. These require confirmation in larger cohorts with extended follow-up and integrated molecular data.
