The Turkish journal of pediatrics最新文献

{"title":"Primary breast Burkitt lymphoma with lactic acidosis in a child: a case report.","authors":"Eren Müngen, Nilgün Kurucu, Tezer Kutluk, H Nursun Özcan, Selman Kesici, Diclehan Orhan","doi":"10.24953/turkjpediatr.2024.4681","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4681","url":null,"abstract":"<p><strong>Background: </strong>Primary breast lymphoma is extremely rare and constitutes approximately 1% of all non-Hodgkin's lymphomas (NHL). Only 1-5% of them are Burkitt type. We present a case of childhood primary breast Burkitt lymphoma (BL).</p><p><strong>Case presentation: </strong>A 16-year-old female patient was referred to our hospital for bilateral breast swelling and respiratory distress. She had lactic acidosis. Despite aggressive dialysis support, lactic acid levels started to decrease only after the combination chemotherapy treatment was started and returned to normal. Histopathological examination of the biopsy was consistent with the diagnosis of BL. The case was classified as stage 4 disease. EICNHL Mature B NHL protocol, Group C3 chemotherapy was given and a very good partial response was achieved. However, the patient died due to fungal septicemia.</p><p><strong>Conclusion: </strong>Type B lactic acidosis in aggressive malignancies indicates a poor prognosis. In such cases, as in our case, lactic acidosis improves only with appropriate and sufficient chemotherapy, and its improvement is an important indicator that the case is responsive to treatment.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"781-785"},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heat shock protein 70 levels in children with nephrotic syndrome.","authors":"Bağdagül Aksu, Zeynep Nagehan Yürük Yıldırım, Asuman Gedikbaşı, Alev Yılmaz","doi":"10.24953/turkjpediatr.2024.4575","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4575","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic nephrotic syndrome (NS) is the most prevalent glomerular disease in children. Heat shock protein 70 (HSP70) is synthesized in response to diverse stress factors like infections and oxidative stress. We aimed to evaluate serum and urine levels of HSP70 in children with steroid-sensitive nephrotic syndrome (SSNS) and to assess changes in HSP70 levels with prednisolone treatment. Additionally, we seek to determine whether serum and urine levels of HSP70 can differentiate between frequently relapsing and infrequently relapsing cases in children with SSNS.</p><p><strong>Methods: </strong>A total of 36 patients with SSNS and 35 healthy children were included in the study. Samples were taken from all patients at four time points; before corticosteroid treatment (day 0) and on days 15, 30, and 90 after the initiation of corticosteroid treatment. Serum and urine levels of HSP70 were measured by enzyme-linked immunosorbent assay (ELISA).</p><p><strong>Results: </strong>In the NS group before steroid treatment (day 0), urine HSP70 (uHSP70) levels and urine HSP70/creatinine (uHSP70/Cre) ratios were significantly higher (p<0.0001), whereas serum HSP70 (sHSP70) levels were lower (p=0.002), compared to the healthy group. uHSP70 levels decreased gradually during prednisolone treatment in the patient group (p<0.0001). There was no difference in terms of sHSP70, uHSP70, and uHSP70/Cre ratios between patients with frequently relapsing and infrequently relapsing.</p><p><strong>Conclusions: </strong>Our study demonstrates that uHSP70 levels are elevated in SSNS prior to treatment and decrease with prednisolone therapy, reflecting reduced renal stress and damage. uHSP70 may be a useful biomarker for monitoring renal damage and treatment response. Serum and urine levels of HSP70, as well as uHSP70/Cre ratios, did not differentiate between frequent and infrequent relapses.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"719-726"},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of endocrine disorders associated with cleft lip and palate.","authors":"Gökberk Çavuşoğlu, Etkin Boynuyoğun, Nur Erek, Mert Çalış, Dicle Canoruç Emet, Nazlı Gönç, Alev Özön, Fatma Figen Özgür","doi":"10.24953/turkjpediatr.2024.4565","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4565","url":null,"abstract":"<p><strong>Background: </strong>Any impediment to the development of midline structures i.e. hypothalamus, pituitary and oral cavity may cause anatomical and functional issues. We aimed to determine the association of endocrine disorders with anatomic defects of midline structures i.e. cleft types and syndromes, as well as their impact on postoperative intensive care unit (ICU) admissions and complications.</p><p><strong>Methods: </strong>A total of 6000 patients from the Cleft Lip and/or Palate (CLP) Treatment Center between September 2014 - February 2022 were included. Patients with physical findings or biochemistry that may indicate endocrine disorders were examined by the Division of Pediatric Endocrinology. Data concerning sex, operation age, cleft types, coexisting endocrine disorders, syndromes, echocardiography, postoperative complications as well as postoperative intensive care unit (ICU) admissions were recorded.</p><p><strong>Results: </strong>The study group consisted of 78 patients with endocrine disorders, with a mean follow-up time of 59±7 months. One hundred and nine CLP operations were performed. The most common endocrine disorders coexisting in CLP patients were hypothyroidism (44.8%) and growth hormone (GH) deficiency (14.1%). Of the patients, 29.4% had genetic syndromes. The median age of operation in patients with endocrine disorders was 5 months (Q1-Q3: 4-8 months) for cleft lip and 15 months (Q1-Q3: 12-20 months) for cleft palate repair. Of the patients with CLP and endocrine disorders, 24% required postoperative ICU admission. Age of operation and ICU admission rates were higher compared to the general population of patients with CLP in our center (p<0.01).</p><p><strong>Conclusions: </strong>Endocrine disorders, particularly hypothyroidism and GH deficiency, are frequent in CLP. Furthermore, our data suggest that endocrine disorders may complicate the postoperative course. Thus, investigation of these problems is crucial for appropriate treatment as well as adopting measures to successfully manage the postoperative course.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"703-712"},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Health-Related Quality of Life scores and joint health in children and young adults with hemophilia.","authors":"Buse Günyel, Mesut Bulakçı, Gamze Başkent, Ayşegül Ünüvar","doi":"10.24953/turkjpediatr.2024.5195","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5195","url":null,"abstract":"<p><strong>Background: </strong>Patients with hemophilia should be evaluated for joint health and overall health in their visits. The aims of this study were to evaluate joint health and health-related quality of life (HRQoL) in patients with mild, moderate, and severe hemophilia; determine which patient groups to focus on and whether there are any neglected patient groups.</p><p><strong>Methods: </strong>This was a single-center, cross-sectional study. Patients were evaluated by ultrasonography (Hemophilia Early Arthropathy Detection with Ultrasound [HEAD-US]), physical examination (Hemophilia Joint Health Score version 2.1 [HJHS-2.1]), and HRQoL scales (EQ-5D/EQ-VAS and Haemo-QoL).</p><p><strong>Results: </strong>Thirty-nine patients with regular follow-up were evaluated for a total of 234 joints. When hemophilia severity was compared with the HEAD-US and HJHS-2.1, a significant difference was found between severe and non-severe hemophilia. On the other hand, when patients' total HEAD-US scores were compared with total HJHS-2.1 scores, no statistically significant correlations were found; only a statistically significant but negligible correlation was detected when HEAD-US and HJHS-2.1 scores were examined at joint level. No significant difference was found when mild, moderate or severe hemophilia were compared with the HRQoL scores. Also, HEAD-US scores and HRQoL scores were not correlated, showing that the HRQoL score did not change whether the patient has arthropathy or not.</p><p><strong>Conclusion: </strong>Despite recent advances in treatment options for hemophilia, arthropathy in patients with severe hemophilia remains challenging. For the follow-up of pediatric hemophilia, the HEAD-US and HJHS should be used together because their correlation was weak. Although patients with severe hemophilia are at higher risk in terms of arthropathy, patients with mild/moderate hemophilia should not be ignored because their HRQoL is not different from that of severe hemophilia.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"737-745"},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of metabolic syndrome components, serum uric acid levels and epicardial adipose tissue thickness in pubertal children by severity of obesity.","authors":"Gönül Büyükyılmaz, Yasemin Özdemir Şahan","doi":"10.24953/turkjpediatr.2024.4558","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4558","url":null,"abstract":"<p><strong>Background: </strong>We aimed to evaluate how the parameters used in the diagnosis of metabolic syndrome (MetS) and parameters such as epicardial adipose tissue (EAT) thickness, insulin resistance (IR), and serum uric acid (SUA) are affected according to the severity of obesity.</p><p><strong>Methods: </strong>A total of 120 obese patients aged 10-18 years were classified as class 1-2-3 according to their body mass index (BMI) score. SUA was measured and oral glucose tolerance tests were performed on all patients. MetS components were determined according to the International Diabetes Federation 2007 criteria. IR was calculated using homeostatic model assessment for insulin resistance (HOMA-IR) and whole body insulin sensitivity index (WBISI).</p><p><strong>Results: </strong>HOMA-IR was higher in the class 3 group than in the class 1 (p<0.001) and class 2 groups (p<0.01). WBISI was lower in the class 3 group than in the class 1 (p=0.015) and class 2 groups (p<0.01). EAT thickness was higher in the class 3 group than in the class 1 (p<0.01) and class 2 groups (p<0.01). No significant difference was found between class 1 and 2 groups for HOMA-IR, WBISI, and EAT thickness variables. The frequency of the MetS components was similar between the class of obesity groups (p=0.702). SUA and EAT thickness were significantly higher in the group with 2 and/or more MetS components than in the group with no MetS component. EAT thickness was positively and moderately correlated with SUA levels (Rho=0.319, p<0.001).</p><p><strong>Conclusions: </strong>A more significant increase in cardiovascular disease risk factors, especially after class 2 obesity suggests that obese people should be followed closely and necessary interventions made for the prevention and progression of obesity. SUA and EAT thickness, an important risk factor affecting the obesity-related comorbidities, are positively correlated with each other and can be used in the follow-up of obese children.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"690-702"},"PeriodicalIF":0.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pneumatosis intestinalis: Does it always indicate necrotizing enterocolitis?","authors":"Yeşim Coşkun, Mehmet Ali Özen, Kalender Kayaş, Çiğdem Arıkan, Tuğba Gürsoy","doi":"10.24953/turkjpediatr.2024.5308","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5308","url":null,"abstract":"<p><strong>Background: </strong>Pneumatosis intestinalis (PI) is a rare radiological finding that may be associated with various diseases. In the neonatal period, it is considered pathognomonic for necrotizing enterocolitis (NEC). Cow's milk protein allergy (CMA) is the main cause of allergy especially in term infants appearing following breastfeeding or consumption of milk-based formulas.</p><p><strong>Case report: </strong>We report three neonates presenting with PI and diagnosed with CMA and/or NEC. Case 1 was a 44-day-old preterm infant admitted to the hospital for nutritional deficiency and jaundice, who later developed PI and a NEC-like appearance (NEC-LA). Case 2 was born at 28 weeks' gestation and developed PI and NEC-LA five times. Case 3 was a 24-day-old term neonate who was admitted to the hospital due to acute gastroenteritis and developed PI and NEC-LA. Only case three required a surgical intervention. After feeding the infants an amino acid-based formula, clinical manifestations improved quickly, and the disease did not relapse. In our opinion, CMA was the correct diagnosis for cases 1 and 3. However, case 2 developed two NEC episodes and three NEC-LA episodes, which were thought to be related to CMA.</p><p><strong>Conclusions: </strong>In addition to NEC, CMA should be considered in every PI, and recurrent NEC feeding should begin in accordance with a CMA management protocol.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"768-774"},"PeriodicalIF":0.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of ocular posterior segment parameters in the pediatric population with migraine without aura and tension-type headache.","authors":"Ulviye Kıvrak, Mehmet Tolga Köle, İbrahim Kandemir, İsmail Kaytan","doi":"10.24953/turkjpediatr.2024.4687","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4687","url":null,"abstract":"<p><strong>Background: </strong>This study aims to compare the posterior ocular structure parameters in children with migraine without aura (MWA), tension-type headache (TTH), and a healthy control group.</p><p><strong>Methods: </strong>The study included 31 patients with MWA, 29 patients with TTH, and 38 healthy controls between 6 and 18 years of age. For all participants, the detailed eye examination and measurements including peripapillary retinal nerve fiber layer (pRNFL) thickness, central macular thickness (CMT), subfoveal choroidal thickness (SCT), macular vessel densities and foveal avascular zone (FAZ) parameters measured by optical coherence tomography (OCT) and OCT-angiography (OCTA), were obtained from the patient files.</p><p><strong>Results: </strong>The mean age was 12.1±3.3 years in MWA patients, 12.4±2.8 years in TTH patients, and 11.9±3.8 years in the healthy controls (p=0.844). Among the groups, the mean pRNFL thickness, CMT, and SCT values were lowest in the MWA group. However, this difference was not statistically significant (p=0.621, p=0.854 and p=0.201, respectively). The mean and four-quadrant (superior, inferior, temporal, nasal) pRNFL thicknesses, the CMT, and the SCT were not statistically significant between the groups (p=0.621, p=0.500, p=0.186, p=0.565, p=0.744, p=0.854 and p=0.201, respectively). The macular vascular densities were lower in MWA patients than in the other two groups, and there was a statistically significant difference between the groups only in the nasal quadrant of the deep retinal capillary plexus (p = 0.014). There were also no statistically significant differences between the groups in the superficial and deep FAZ area parameters (p=0.652 and p=0.985).</p><p><strong>Conclusion: </strong>This study suggested that differential diagnosis between MWA and TTH can be difficult in childhood, as these conditions, which can present with ocular symptoms, may also be characterized by changes in posterior segment parameters. Long-term studies incorporating OCT-A in larger patient populations may provide valuable insights into retinal changes associated with these two distinct headache spectrums.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"758-767"},"PeriodicalIF":0.0,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metoclopramide-induced rapid-onset psychosis in a child with methylphenidate use: a case report.","authors":"Gökçen İlçioğlu Ekici, Gülser Şenses Dinç, Ayşegül Neşe Çıtak Kurt","doi":"10.24953/turkjpediatr.2024.5319","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.5319","url":null,"abstract":"<p><strong>Background: </strong>Metoclopramide, a dopamine antagonist employed for its antiemetic effects, can precipitate neuropsychiatric adverse effects, including extrapyramidal symptoms and, in a few instances, acute psychosis. Although there have been reports of metoclopramide-induced psychosis in elderly individuals, there is no documentation of such incidents in children as far as we are aware.</p><p><strong>Case presentation: </strong>This case report describes an 11-year-old girl with a history of mild intellectual disability and attention deficit hyperactivity disorder, managed with 10 mg of methylphenidate daily. She presented to the emergency department with acute gastrointestinal symptoms and was administered two tablets of metoclopramide alongside her regular dose of methylphenidate. Subsequently, she developed psychotic symptoms, disorganized behavior, and agitation. An extensive medical evaluation ruled out other organic pathologies, leading to a diagnosis of rapid-onset psychosis induced by metoclopramide. The psychotic episode, which lasted approximately two weeks, resolved with low-dose antipsychotic treatment.</p><p><strong>Conclusions: </strong>Children, especially those with neurodevelopmental disorders, are more susceptible to a wide range of side effects. Therefore, this report highlights the necessity for careful pharmacological management. Additionally, this case represents a significant contribution to the scientific literature by being the first to document metoclopramide-induced acute psychosis in children to the best of our knowledge.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"775-780"},"PeriodicalIF":0.0,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142981039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anti-SRP myositis: a diagnostic and therapeutic challenge.","authors":"Merve Cansu Polat, Didem Ardıçlı, Banu Çelikel Acar, Beril Talim, Nesrin Şenbil, Elif Çelikel","doi":"10.24953/turkjpediatr.2024.4916","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4916","url":null,"abstract":"<p><strong>Background: </strong>Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to increase the awareness of pediatricians about idiopathic inflammatory myopathies.</p><p><strong>Case presentation: </strong>A previously healthy 3-year-old girl presented with progressive symmetrical proximal muscle weakness that caused difficulty in climbing stairs for two months prior to evaluation, and a marked elevation of the serum creatine kinase levels. A skeletal muscle biopsy revealed necrotic and regenerating processes, with mild inflammatory changes. Myositis-specific and associated autoantibodies tested by the immunoblot method were positive for anti-SRP. Pulse corticosteroid, intravenous immunoglobulin, and methotrexate were administered. However, muscle weakness progressed, respiratory distress and dysphagia developed. Rituximab was initiated. While on rituximab treatment, she was able to walk independently and muscle enzymes were within normal range at the 15th month of diagnosis.</p><p><strong>Conclusion: </strong>Early diagnosis of patients with anti-SRP myositis is important to control inflammation and prevent disease progression and complications. To our knowledge, our patient is the youngest case reported in the literature and was successfully treated with rituximab added to conventional therapy.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"792-800"},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience.","authors":"Dilek Kaçar, Büşranur Çavdarlı, Ayça Koca Yozgat, Melek Işık, Fatma Burçin Kurtipek, Fatma Tuba Yıldırım, Turan Bayhan, Dilek Gürlek Gökçebay, Namık Yaşar Özbek, Neşe Yaralı","doi":"10.24953/turkjpediatr.2024.4699","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4699","url":null,"abstract":"<p><strong>Background: </strong>The management of pediatric acute myeloid leukemia (AML) is based on the prognostic risk classification of initial leukemia. Targeted next-generation sequencing (NGS) is a reliable method used to identify recurrently mutated genes of pediatric AML and associated prognosis.</p><p><strong>Methods: </strong>In this study, we retrospectively evaluated the prognostic, and therapeutic utility of a targeted NGS panel covering twenty-five genes, in 21 children with de novo and 8 with relapsed or secondary AML.   Results. Variants were detected in 44.8% of patients, and 63.2% of them were in the signaling pathway genes. The number of variants per patient and diversity increased with age. The panel results affected hematopoietic stem cell transplantation decisions, especially in core binding factor AML, and allowed the categorization of diseases according to current classifications. Panel results also pointed out predisposition to germline leukemia to the extent of the panel coverage. No targeted therapy was used based on the variants, and none of the variants were used to monitor minimal residual disease.</p><p><strong>Conclusions: </strong>Targeted NGS results, along with well-known genetic aberrations and treatment responses, can guide treatment modalities. The coverage of the routine panels should include proven mutations of childhood AML and germline leukemia predisposition genes.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 6","pages":"727-736"},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}