Background/Objectives: Aging is characterized by genomic instability, reduced biological diversity, and clonal dominance across multiple biological systems. While short tandem repeats (STRs) are traditionally considered neutral genetic markers, emerging evidence raises the possibility that variation in these regions may be examined in relation to broader genomic processes associated with aging. Methods: STR profiles from 400 individuals were analyzed, including 275 young participants aged 21-43 years and 125 elderly participants aged ≥65 years. Genetic diversity was assessed using parameters such as expected heterozygosity (He), individual heterozygosity ratio, and allelic dominance. Additionally, STR loci were mapped to the hg38 reference genome (±100 kb), and nearby genes were annotated with KEGG pathway information to provide exploratory biological context for the investigated loci. Results: No statistically significant differences were observed in heterozygosity or allelic dominance between the young and elderly groups. However, a slight trend toward decreased heterozygosity and increased allelic dominance was noted in the elderly population. Genomic mapping indicated that some STR loci are located in proximity to genes annotated in aging-related pathways; however, this finding is based on genomic proximity and should be interpreted as exploratory. Conclusions: The primary analyses did not demonstrate statistically significant differences in STR-based genetic diversity between the young and elderly groups. The observed trends and genomic proximity findings should therefore be considered exploratory and hypothesis-generating. Validation in larger, independent prospective cohorts and integration with functional genomic data are required before any biological significance can be inferred.

Age-associated immune–inflammatory remodeling may be influenced by regulatory variation in the macrophage migration inhibitory factor gene (MIF). We conducted an exploratory cross-sectional comparison to assess whether MIF rs755622 (−173G/C) genotype distributions differ between predefined younger and older age groups in a Turkish population and to characterize the observed pattern using genetic-model and in silico analyses. We evaluated 368 individuals: 245 older adults aged 65–102 years and 123 younger controls aged 20–46 years. None of the 26 main association tests remained statistically significant after global multiplicity correction (minimum FDR q = 0.062; minimum Bonferroni-adjusted p = 0.108). Before correction, GC frequency was higher in the older group and increased across the ordered age categories, and sex-adjusted analyses yielded concordant nominal estimates. However, these nominal patterns were sensitive to younger-control genotype reclassification and were not supported by an allele-level or additive association. Younger controls showed Hardy–Weinberg disequilibrium (p < 0.001), without sequencing confirmation, and deterministic and scenario-based Monte Carlo genotype-reclassification analyses indicated sensitivity of the nominal signal to uncertainty in control genotype classification. GTEx data provide C-allele-oriented expression context but do not validate function in this cohort. These preliminary findings warrant independent genotype verification, ancestry-matched replication, and direct functional investigation in future studies.

Objective: Treosulfan is an alkylating agent whose use is increasing in HSCT conditioning regimens. Studies have highlighted its efficacy alongside its low toxicity profile. In this single-center study, we retrospectively report our experience and results with treosulfan in pediatric stem cell conditioning regimens. Methods: Fifty-seven patients who underwent stem cell transplantation with a treosulfan-based conditioning regimen between September 2017 and April 2023 at the Istanbul Medipol University Pediatric Bone Marrow Transplantation Unit were included in the study. Treosulfan doses were determined based on age (under 1 year: 10g/m2/day;1-2 years:12g/m2/day; over 2 years:14g/m2/day for 3 days). Results: Of the 57 patients, 27 (47%) experienced acute GVHD and 3 (5.2%) experienced chronic GVHD. Of the 27 patients who had acute GVHD, 20 had grade I-II GVHD, and 7 had grade III-IV GVHD. Among the 3 patients with chronic GVHD, 1 experienced grade III-IV GVHD and 2 had grade I-II acute GVHD. Among the 14 patients with acute skin GVHD, 3 had grade III-IV, and among the 4 patients with acute gastrointestinal (GI) GVHD, 1 had grade III-IV. Of the 8 patients with acute skin +GI GVHD, 2 had grade III-IV. One patient experienced grade IV skin and liver GVHD. Of the 3 patients with chronic GVHD, 2 developed bronchiolitis obliterans and 1 had chronic skin GVHD. VOD developed in 2 patients. One of these patients had leukocyte adhesion deficiency (LAD) type 3 and underwent a transplant from an MUD without defibrotide. The other patient, diagnosed with HLH, received a haploidentical transplant with defibrotide. Two patients experienced secondary engraftment failure. One had thalassemia major, and the other had Chediak-Higashi syndrome. All patients except these two were followed-up with full donor chimerism. Four of the 57 patients died (overall mortality: 7 %). One patient with ALL died from GVHD-sepsis, and another died due to relapsed disease. One patient with AML was lost due to bronchiolitis obliterans during the third year post-transplant, and another patient with AML succumbed to sepsis and toxicity within the first 100 days. There were no deaths among patients with non-malignant diagnoses. The 100-day mortality rate was 1.75 %, with one patient passing away during this period. Conclusions: Treosulfan can be preferred in the conditioning regimens of pediatric patients due to its similar efficacy and lower toxicity profile. Our study, which includes a broad pediatric patient group, provides guidance in this regard.

INTRODUCTION: Ewing sarcoma (ES) is an aggressive pediatric bone and soft tissue malignancy. Despite advances in multimodal therapy, outcomes remain suboptimal for patients with high-risk features such as large tumor volume, poor histologic response, disseminated disease, or relapse. Maintenance strategies have gained interest in pediatric sarcomas, but evidence in ES is limited. Pazopanib, an oral multi-targeted tyrosine kinase inhibitor, has shown activity in adult soft tissue sarcomas; however, data on its use as maintenance therapy in pediatric ES are scarce. METHODS: We retrospectively analyzed six pediatric ES patients who received pazopanib as maintenance therapy following consolidation treatment or, when applicable, after high-dose chemotherapy with autologous stem cell transplantation. Indications included poor-risk localized disease, relapse, or stable residual disease after frontline therapy. Pazopanib dosing, duration, toxicity, and clinical outcomes were reviewed. RESULTS: Pazopanib was administered at doses of 400–800 mg in five patients and 200 mg twice daily in one patient. Hair depigmentation occurred in all patients, and one patient developed reversible hepatotoxicity requiring temporary interruption and dose reduction. At a median follow-up of 47 months (range, 18–53 months), five patients remained in complete remission. One patient with disseminated disease at diagnosis developed intracranial relapse 18 months post-transplant while still receiving pazopanib. CONCLUSIONS: In this retrospective cohort, pazopanib was generally well tolerated and may have a potential role as maintenance therapy in selected high-risk pediatric ES patients. However, efficacy cannot be determined from this limited series, and prospective studies are needed to better define its clinical utility in ES.

INTRODUCTION:Activation of the complement system following transplantation may result in allograft rejection. Our study aimed to evaluate the potential relationship between factors affecting kidney transplant success and complement 5 (C5) using bioinformatic tools. METHODS:GenCards and Genemania were used to provide the genetic functional information belonging to the C5 gene, and genomic browsers of STRING, UCSC, KEGG were used to reveal interactions with other genes and various pathways. MiRDB was used to specify the miRNAs that were associated with the C5 gene. The UniProt database was used to determine the tissues that expressed the C5 gene using protein-protein interactions. RESULTS:In the bioinformatic analyses performed, high levels of C5 gene expression were found in the naiive kidney. Twenty-five genes were found to be strongly associated with C5. Fifty-four miRNAs targeting the C5 gene were specified. The C5 gene was found to be involved in biologic processes such as complement activation (FDR = 6.46e-22), complement binding (FDR = 2.20e-06), cytolysis (FDR = 4.82e-14), regulation of complement activation (FDR = 4.08e-24), positive regulation of vascular endothelial growth factor production (FDR = 0.0430), regulation of macrophage chemotaxis (FDR = 0.0447), activation of the immune response (FDR = 1.26e-13), leukocyte-mediated immunity (FDR = 1.41e-09), innate immune response (FDR = 3.05e-09), allograft rejection (FDR = 2.40e-12), oxidative injury response (FDR = 0.00016), and trigerring of the beginning of the complement cascade (FDR = 0.0244). CONCLUSIONS:The data obtained in this study will be used to guide future experimental investigations in the field of transplantation, and these data will give physicians with insight into allograft status following transplantation.

Background/Objectives: The mTOR serine/threonine kinase coordinates protein translation, cell growth, and metabolism, and its dysregulation promotes tumorigenesis. We present a reproducible, pan-cancer, network-aware framework that integrates curated resources with genomics to move beyond pathway curation, yielding falsifiable hypotheses and prioritized candidates for mTOR axis biomarker validation. Materials and Methods: We assembled MTOR-related genes and interactions from GeneCards, KEGG, STRING, UniProt, and PathCards and harmonized identifiers. We formulated a concise working model linking genotype → pathway architecture (mTORC1/2) → expression-level rewiring → phenotype. Three analyses operationalized this model: (i) pan-cancer alteration mapping to separate widely shared drivers from tumor-specific nodes; (ii) expression-based activity scoring to quantify translational/nutrient-sensing modules; and (iii) topology-aware network propagation (personalized PageRank/Random Walk with Restart on a high-confidence STRING graph) to nominate functionally proximal neighbors. Reproducibility was supported by degree-normalized diffusion, predefined statistical thresholds, and sensitivity analyses. Results: Gene ontology analysis demonstrated significant enrichment for mTOR-related processes (TOR/TORC1 signaling and cellular responses to amino acids). Database synthesis corroborated disease associations involving MTOR and its partners (e.g., TSC2, RICTOR, RPTOR, MLST8, AKT1 across selected carcinomas). Across cohorts, our framework distinguishes broadly shared upstream drivers (PTEN, PIK3CA) from lineage-enriched nodes (e.g., RICTOR-linked components) and prioritizes non-mutated, network-proximal candidates that align with mTOR activity signatures. Conclusions: This study delivers a transparent, pan-cancer framework that unifies curated biology, genomics, and network topology to produce testable predictions about the mTOR axis. By distinguishing shared drivers from tumor-specific nodes and elevating non-mutated, topology-inferred candidates, the approach refines biomarker discovery and suggests architecture-aware therapeutic strategies. The analysis is reproducible and extensible, supporting prospective validation of prioritized candidates and the design of correlative studies that align pathway activity with clinical response.

OBJECTIVES:To evaluate the genetic polymorphisms in IL-2 and IL-2RA genes in schizophrenia (SCZ) patients by comparing them with healthy controls. METHODS:A sample of 127 patients with SCZ and 100 healthy volunteers were included in the case-control study. These individuals were consecutively selected from the Malazgirt State Hospital Psychiatry Outpatient Clinic in Mus, Turkey, over the three months from October 2020 to December 2020. The Structured Clinical Interview for DSM-5 Disorders, Clinician Version (SCID-5-CV) was used to confirm the diagnosis according to the DSM-5 criteria. In addition, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine gene polymorphisms from DNA material. RESULTS:Our findings indicated significant differences in the IL-2 genotype and allele frequencies between SCZ patients and the healthy control group. Specifically, the frequency of the homozygous GG genotype was notably higher in SCZ patients compared to the control group. Conversely, when comparing the IL-2RA genotype and allele frequencies of SCZ patients with the control group, no statistically significant differences were observed between the 2 groups. When compared to individuals with other genotypes, interaction analysis indicated that carriers of the GG/AG (IL-2/IL-2RA) genotype demonstrated a significantly increased risk of SCZ. CONCLUSION:In light of the analyses, our study indicates that while the IL-2 genotype polymorphism may be considered a risk factor for developing SCZ, the IL-2RA variant was not associated with SCZ among Turkish patients.

Introduction: Thrombocytopenia is a common clinical problem in cancer patients undergoing high-dose chemotherapy and autologous hematopoietic stem cell transplantation (HSCT). It can occur as prolonged isolated thrombocytopenia (PIT) or secondary failure of platelet recovery (SFPR) and may cause potentially fatal bleeding. However, data on the treatment of post-transplant thrombocytopenia is still lacking. Methods: We reported our practices involving 15 pediatric patients who received eltrombopag (ELT) treatment for PIT and SFPR after autologous HSCT. Results: The overall response was 78.5% (11/14), with 1 patient excluded due to noncompliance. The 12 surviving patients' median follow up was 699 days (range: 167 to 2250 d). Conclusions: Our study indicates the efficacy and safety of ELT for treating PIT and SFPR after autologous HSCT in pediatric patients. However, more studies are needed to confirm these findings in children.

INTRODUCTION:Epidemiologic studies on pediatric acute lymphoblastic leukemias (ALL) have been conducted to evaluate the possible risk factors including genetic, infectious and environmental factors with the objective of idenfying the etiology. Mannose-binding lectin 2 (MBL2) plays an important role in first-line immune defense. HLA DRB1 alleles play a role in presentation of peptides to T cells and in activation of the adaptive immune response. OBJECTIVE:In our study, we aimed to investigate both the MBL2 gene variant and HLA-DRB1 alleles in pediatric ALL patients. MATERIALS:In this study, 86 high-risk ALL patients and 100 controls were included. Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphism (PCR-RFLP) and PCR-sequence specific primer (SSP) methods were used for detection of polymorphism of the MBL2 and HLA-DRB1 alleles, respectively. RESULTS:The frequency of the MBL2 AB genotype was lower in female ALL patients, compared to male ALL patients (p = 0.034). An association was found between the MBL2 BB genotype and DRB1*07 and among patients with the MBL2 BB genotype; those who also carried the DRB1*07 and *04 alleles were significantly higher than those without the DRB1*07 and *04 alleles. (p = 0.048, p = 0.022, respectively). CONCLUSION:This is the first study suggesting that the MBL2 BB genotype in association with the DRB1*07 or co-inheritance of the HLA-DRB1*04 and HLA DRB1*07 may have an impact on the etiopathogenesis of the disease.

Objective: Hemoglobinopaties are the most common genetic disorder worldwide. Patients with transfusion-dependent thalassemia major (TDT) are deficient in β-globulin chain production, resulting in ineffective erytropoiesis and hemolysis. Consequently, patients with TDT suffer from primary and secondary iron overload, leading to severe organ dysfunction. In despite of significant improvements in supportive care, especially monitoring and treatment of iron overload and its complications, organ dysfunction progresses in adulthood, resulting in significant morbidity and mortality.Allogeneic haematopoietic stem cell transplantation (HSCT) is the current standart of care for patients with thalassemia major, except clinical trials on gene therapy and gene editing as alternative curative options.Despite improvements in supportive care, blood transfusions and organ damage from iron overload situation before HSCT, predict worse outcome. Recent studies have reported a rate of graft rejection of 8 to 12 % in pediatric patients with TDT undergoing HSCT. Furthermore, the role of conditioning regimen in the outcome has been extensively investigated. Busulfan, treosulfan, fludarabine, thiotepa, cyclophosphamide are common agents of the conditioning regimen for HSCT. Busulfan is an alkylating agent that is mainly eliminated through the liver. Busulfan is associated with sinusoidal obstruction syndrome, pulmonary toxicty, seizures, chronic gonadal dysfunction, and late mortality. Treosulfan is the prodrug of L-epoxybutane, a water-soluble, bifunctional alkylating agent. Treosulfan-containing regimens achieve a high rate of stable donor engraftment, reduced transplant-related mortality and low rate of GVHD. Therefore, treosulfan has been considered to replace busulfan in conditioning regimens in patients with TDT. Experience with treosulfan-based conditioning in pediatric patients is more limited than studies in adult series. However, the data has promising results.Thus, here were reported a retrospective study of patients with TDT undergoing HSCT, in which we compared those with busulfan and those with treosulfan in their conditioning regimen. Methodology: We retrospectively evaluated all the consecutive cases of pediatric patients underwent allogenic HSCT and busulfan-based or treosulfan-based conditioning regimens between 2015 and 2021 at Istanbul Medipol University Pediatric Bone Marrow Transplantation Unit. 47 patients were included to the study.Patients between 0 and 18 years of age that unerwent allogenic HSCT for TDT with a treosulfan or busulfan base conditioning regimen during the period of the study were included.In our center, Busulfan-Cyclophosphamide was the conditioning regimen between 2015-2017. Busulfan dose was adjusted according to patient's weight (3-15 kg: 5,11mg/kg/d; 15-25 kg: 4,9mg/kg/d; 25-50 kg: 4,1mg/kg/d; 50-75 kg: 3,3mg/kg/d; 75-100 kg: 2,7mg/kg/dd), and then recalibrated according to AUC. Cyclophosphamide dose was 50mg/kg/d, 4 days.We started using treosulfan-based conditioning in patients with any risk factor for busulfan toxicity in 2018. Conditioning regimen is; treosulfan 10-12-14 g/m2/d (based on age) 3 days, fludarabine 40 mg/m2/d 4 days, thiotepa 10mg/kg/d 1 day.GVHD prophylaxis was administered as ATG, methotrexate and cyclosporine.Prophylaxis of venoocclusive disease (VOD) with defibrotide was administered whether the patient had a risk factor or not. Results: A total of 47 patients undergoing 49 allogenic HSCT were included: 32 HSCT (65%) with busulfan and 17 (35%) with treosulfan based conditionings.Median age was 7,16 years (2,15-15,9), with no significant difference between the busulfan and treosulfan cohorts (7,9; 7,15). There were 22 (47%) girls and 25 (53%) boys.In the total study population, an HSCT was received from a matched sibling donor (MSD) by 31 patients (65%) and from a 10/10 matched unrelated donor (MUD) by 14 patients (29%). One patient had an 6/6 matched mother and one patient had a 6/6 matched father. There was a significant difference between busulfan and treosulfan cohorts: An HSCT was performed with a MSD by 26 patients (86%) in the BU-Cy group versus 5 (33%) in the TREO-FLU group.The stem cell source was bone marrow (BM) for 75% (n=37) of transplantations and peripheral blood stem cells (PBSC) for 22% (n=11). In one transplantation, both BM and PBSC were used. There was a significant difference between the groups: BM in 87% of transplantations for BU-Cy group; and 47% of transplantations in TREO-FLU group.Thirteen patients experienced acute graft versus host disease (GVHD): 8 patient with skin GVHD (17%: 5 in BU-Cy group, 15%; 3 in TREO-FLU group, 15%), 3 patients with gastrointestinal (GIS) GVDH (6%: 1 in BU-Cy group, 3%; 2 in TREO-FLU group, 11%), 2 patienst with both skin and GIS GVHD (4%, both of two were in the BU-Cy group). However, there were significant differences in donor types and stem cell sources between two groups. There are 3 patients following-up with chronic GVHD: 2 with bronchiolitis obliterans (1 in BU-Cy group and 1 in TREO-FLU group) and 1 patient with ocular GVHD (in BU-Cy group)Ten patients had VOD and all of them were in BU-Cy group (21% of whole population, 30% of BU-Cy group) .Four of 10 patients were followed-up in intensive care unit, and 3 of them had seizures therewithal. We did not have mortality due to VOD.In the total study population, primer engraftment failure number was 3 (6%: all in BU-Cy). We performed second HSCT in 2 of 3, and 1 of 3 died. Number of secondary graft rejection was 2 (4%: 1 in BU-Cy, 1 inTREO-FLU). Their bone marrow turned into TDT with normal series of granulocytes and platelets and parents did not prefer the second transplantation. Number of prolonged isolated thrombocytopenia was 2 (4%: both in BU-Cy): One had platelet recovery with eltrombopag treatment and the other died due to severe GIS GVHD.The median follow-up of all patients was 6 years (2-7 years). OS was 93,75% in the BU-Cy group and 100% in the TREO-FLU group. We had 2 transplant-related mortality: One patient was 15-year-old boy, underwent BU-Cy based allogenic HSCT from his MSD. He had primer engraftment failure with aplasic bone marrow. The other was 12-year-old boy, underwent BU-Cy based allogenic HSCT from his MSD. He had severe GIS GVHD and prolonged isolated thrombocytopenia. Conclusion: Despite busulfan based conditionings used to be more common approach in pediatric patients underwent allogenic HSCT for TDT, treosulfan-based conditioning is gaining acceptance. Our retrospective study confirms the efficiacy and safety of both agents. Treosulfan, fludarabine and thiotepa seem to be appropriate for minimizing the risk of complications, particularly for VOD.

Abstract Objectives Graft-versus-host disease (GvHD) is a complex clinical syndrome with organ dysfunction as a consequence of a severe immunological reaction mediated by mainly T cells after hematopoietic stem cell transplantation. Our aim is to evaluate the association of HLA-DRB1 alleles, IFN-γ and TGF-β gene variations, with childhood ALL (c-ALL) patients and with GvHD after transplantation. Methods This study included 30 high-risk c-ALL patients and 100 controls. HLA-DRB1 alleles were studied by the NGS method, and TGF-β and IFN-γ variations were studied by the PCR-RFLP method. Results The rates of HLA-DRB1*15 alleles and IFN-gamma CC genotype were significantly higher in c-ALL patients (p=0.004, p=0.036 respectively). Association of the HLA-DRB1*15 alleles with the TGF-β TC genotype was found with a higher rate in the patient group (p=0.031). Association of the DRB1*04 allele with the IFN-γ CC genotype was found with a higher rate in the patient group (p=0.028). Acute GvHD developed in eight of 19 patients who underwent transplantation. IFN-γ CT was found to have a protective role in occurrence of aGvHD (p=0.044). Association of the DRB1*15 allele with IFN-γ TT was found with a higher rate in a GvHD (p=0.050). Conclusions It is thought that polymorphism of HLA-DR15 and IFN-γ CC may contribute to the development of c-ALL, while IFN-γ CT might be protective for aGvHD.

ABSTRACT Abnormality of the immune system may play an important role in the pathogenesis of schizophrenia (SCZ). We aim to investigate the relationship between clinical features of SCZ and tumor necrosis factor-alpha (TNF-α) −238 G/A, −308 G/A polymorphisms in SCZ patients by comparing genotype distributions of TNF-α gene polymorphisms between patients and healthy controls. A sample of 113 patients with SCZ and 104 healthy volunteers was included in the study. SCID-I was used to confirming the diagnosis according to DSM-IV-TR criteria. We evaluated the patients with some scales and data forms in terms of clinical features, symptom severity, level of insight, suicidal behavior, and treatment response. PCR-RFLP was used to determine TNF-α gene polymorphisms from DNA material. The distributions of TNF-α − 238 G/A and TNF-α − 308 G/A polymorphisms of the patients diagnosed with SCZ were not significantly different from the control group. There was a significant difference in the TNF-α − 238 G/A genotype distributions between treatment-resistant and treatment-responsive SCZ patients. Again, the distributions of TNF-α − 238 G/A genotype of attempted suicide patients in SCZ were significantly different from the non-attempted suicide of SCZ patients. Whereas TNF-α − 238 G/A and −308 G/A polymorphisms were not associated with SCZ, TNF-α − 238 G/A polymorphism may be related to treatment resistance and attempted suicide in SCZ patients in the Turkish population.

OBJECTIVE:In this study, we sought to describe the clinical, laboratory, and genetic character- istics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophago- cytic lymphohistiocytosis patients. MATERIALS AND METHODS:Medical records of 9 patients diagnosed with primary hemophago- cytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retro- spectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. RESULTS:The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was per- formed in 7 (78%) patients. CONCLUSION:Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoi- etic stem cell transplantation as soon as they reach the disease remission.

BACKGROUND:PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations.OBSERVATION:Here, we report a patient with PNKP mutation, who developed AML at age of five and underwent reduced-intensity HSCT.CONCLUSION:Although many DNA repair disorders are known to have increased risk of malignancy, association between PNKP mutations and malignancy is not well-described. This report is the first description of a PNPK mutation patient developing a malignancy and undergoing curative HSCT.

Objective: Short:tandem repeats (STRs) are short sequences of nucleotides that are repeated and distributed all over the genome. These polymorphisms enable investigation of the forensic, ancestral lineage and evolutionary studies in human population. Owing to the historical migration and ethnic groups, it is very valuable to evaluate genetic distances in Turkey. The aim of the present study is to examine the STR data of Istanbul and compare the genetic distances and allele frequency with the previously published data of 27 countries from Europe, Asia, America, Africa and Middle East. Material and Method: Peripheral blood samples were obtained from 400 healthy individuals. DNA samples were amplified using a commercial kit. Multiplex STR-PCR (Applied Biosystems, Foster City, CA, USA) was used and the amplicons were evaluated on an ABI 3130 Genetic Analyzer. Results: Among all loci, D21S11 and D18S51 were the most polymorphic loci. The power of discrimination (PD) ranged from 0.8329 (TPDX) to 0.9722 (D18S51). The combined PD and probability of exclusion (PE) were found to he >0.99999999 and 0.99999671. respectively. Conclusion: In this study, six STR markers were selected to compare the genetic distances and allele frequency of the present results with the results of twenty-seven studies which were published previously. This study indicates that the population in Turkey is an intermediate between Europe, Middle East and Central Asia.

To describe the clinical characteristics of patients with chronic neutropenia. Data of 36 patients with chronic neutropenia, who were followed up in the authors' clinic between May 2013 and May 2020, were analyzed retrospectively. Patients were diagnosed based on their clinical and laboratory characteristics. A total of 36 patients (23 females, 13 males) were included in the study. The mean age at diagnosis was 9.85 ± 9.17 mo while the mean follow-up time was 21.83 ± 20.03 mo. The mean absolute neutrophil count (ANC) at admission was 462.5 ± 388.8 cells/mm3 (median = 375 cells/mm3), and the lowest and highest ANC mean was 241.2 ± 262.1 cells/mm3 (median = 125 cells/mm3), and 1362.9 ± 1127.9 cells/mm3 (median = 925 cells/mm3), respectively. Idiopathic neutropenia was found in 28 (77.8%) patients, autoimmune neutropenia in 6 (16.7%) patients, and congenital neutropenia in 2 (5.6%) patients. Neutrophil normalization was observed in 19 (52.8%) of the patients. Chronic neutropenia is a heterogeneous picture that presents with different clinical symptoms in childhood. The cause of neutropoenia in children is usually benign and resolves spontaneously but especially in those with severe neutropoenia genetic examination should be performed.