The Turkish journal of pediatrics最新文献

{"title":"The relationship between microRNA-155-5p and postoperative inflammatory markers in children with acute suppurative appendicitis and its role in predicting postoperative complications.","authors":"Chunsheng Duan, Wei Lu, Jiansu Ma, Yanglin Song, Lixia Zhou","doi":"10.24953/turkjpediatr.2025.5455","DOIUrl":"10.24953/turkjpediatr.2025.5455","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of acute suppurative appendicitis (ASA) is the highest among pediatric cases of acute abdominal conditions. This research examined the stress response linked to surgical techniques and identified potential biomarkers that could predict postoperative complications to enhance clinical treatment strategies.</p><p><strong>Methods: </strong>This study involved a selection of 166 ASA patients who underwent laparoscopic appendectomy (LA), and 150 patients who underwent open appendectomy (OA), based on data collected from 2020 to 2023. Comprehensive documentation of clinical and pathological characteristics, as well as postoperative complications, was conducted following patient enrollment. Quantitative polymerase chain reaction (qPCR), enzyme-linked immunosorbent assay (ELISA), and blood smear techniques were employed to assess the levels of microRNA (miR)-155-5p, C-reactive protein (CRP), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), superoxide dismutase (SOD), and malondialdehyde (MDA), as well as changes in leukocytes, neutrophils, and lymphocytes at preoperative and postoperative 0 h, and 24 h. A logistic regression model was utilized to identify risk factors associated with the development of complications. Furthermore, receiver operating characteristic (ROC) curve analysis was performed to assess the predictive capacity of miR-155-5p for the occurrence of complications.</p><p><strong>Results: </strong>The study revealed that the levels of miR-155-5p postoperatively in patients undergoing OA was significantly greater than that observed in patients undergoing LA (P.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"78-89"},"PeriodicalIF":0.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627278","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":"A case of neonatal gastric teratoma complicated with occult gastrointestinal hemorrhage misdiagnosed as lymphangioma.","authors":"Bin De Li, Kexiang Wei","doi":"10.24953/turkjpediatr.2025.5148","DOIUrl":"10.24953/turkjpediatr.2025.5148","url":null,"abstract":"<p><strong>Background: </strong>Gastric teratoma is a rare neoplasm, particularly in neonates, and usually presents as a palpable abdominal mass. However, severe occult gastrointestinal bleeding is uncommon and often misdiagnosed. Imaging studies are crucial for the preoperative diagnosis of neonatal teratoma, but definitive diagnosis relies on pathological examination.</p><p><strong>Case presentation: </strong>A 28-day-old boy presented with abdominal distension accompanied by vomiting for 2 days without hematemesis or melena. A complete blood count upon admission showed a hemoglobin level of 37 g/L. Ultrasound and computed tomography scans indicated a large cystic, solid mass in the abdominal cavity (approximately 9.8 × 8.8 × 11.2 cm), containing nodules, septa, calcification, and fat, and causing gastrointestinal compression. The mass was misdiagnosed as lymphangioma with hemorrhage before surgery. During surgery, the upper pole of the tumor was found to be fused with the gastric wall of the greater curvature of the fundus of the stomach, with most of the tumor growing exophytically and a small portion growing into the gastric lumen. The tumor, along with part of the gastric wall at the attachment site, was completely removed. Postoperative pathological examination revealed an immature teratoma grade 1. After discharge, the patient's growth and development were normal, with no adverse manifestations.</p><p><strong>Conclusions: </strong>Neonatal gastric teratoma with severe occult gastrointestinal bleeding is extremely rare and hence must be on the list of differential diagnoses of neonatal abdominal mass when a cystic solid mass is found, especially when accompanied by severe anemia without obvious gastrointestinal bleeding. Attention should be paid to the location of the lesion, which is predominantly in the left upper abdomen and has been significantly pushed and displaced by the gastrointestinal tract, and to the imaging characteristics of teratoma such as fat and calcification, which help to exclude other palpable masses encountered during the neonatal period.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"123-128"},"PeriodicalIF":0.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626874","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":"Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye.","authors":"Meltem Akgül Erdal, Halime Nayır Büyükşahin, Velat Şen, Ayşe Ayzıt Kılınç, Haluk Çokuğraş, Güzide Doğan, Aslı İmran Yılmaz, Gökçen Ünal, Mahir Serbes, Derya Ufuk Altıntaş, Elif Arık, Özlem Keskin, Mehmet Mustafa Özaslan, Oğuz Karcıoğlu, Mehmet Köse, Abdurrahman Erdem Başaran, Eylül Pınar Çakır, Yakup Canıtez, Ali Özdemir, Koray Harmancı, Salih Uytun, Sanem Eryılmaz Polat, Melih Hangül, Hasan Yüksel, Gizem Özcan, Pervin Korkmaz, Mehmet Kılıç, Zeynep Gökçe Gayretli Aydın, Gönül Çaltepe, Demet Can, Sibel Doğru, Gökçen Kartal Öztürk, Ayşe Süleyman, Erdem Topal, Beste Özsezen, Mina Hızal, Ezgi Demirdöğen, Hamza Ogun, Şermin Börekçi, Hakan Yazan, Hadice Selimoğlu Şen, Ayşegül Doğan Demir, Erkan Çakır, Tuğba Şişmanlar Eyüboğlu, Nagehan Emiralioğlu, Sevgi Pekcan, Uğur Özçelik, Deniz Doğru","doi":"10.24953/turkjpediatr.2025.4680","DOIUrl":"10.24953/turkjpediatr.2025.4680","url":null,"abstract":"<p><strong>Background: </strong>Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variants are essential for determining eligibility for CFTR modulator drugs (CFTRms). In contrast to Europe and the USA, the treatment eligibility profile of cystic fibrosis (CF) patients in Türkiye is not known. In this study we aimed to determine the eligibility of CF patients in Türkiye for the CFTRms.</p><p><strong>Methods: </strong>The Cystic Fibrosis Registry of Türkiye (CFrT) data was used to determine the age of patients in the year 2021 and the genetic variants they were carrying. Age- and CFTR-variant appropriate modulator therapies were determined using the Vertex® algorithm.</p><p><strong>Results: </strong>Among a total of 1930 registered patients, CTFR gene analysis was performed on a total of 1841 (95.4%) patients. Mutations were detected in one allele in 10.7% (198 patients), and in both alleles in 79% (1455 patients) of patients. A total of 855 patients (51.7% for whom at least 1 mutation was detected) were eligible for the drugs. The most appropriate drug among genotyped patients was found to be elexacaftor/tezacaftor/ivacaftor for 486 patients (26.4%), followed by ivacaftor for 327 patients (17.7%) and lumacaftor/ivacaftor for 42 patients (2%).</p><p><strong>Conclusions: </strong>Only half of patients registered in CFrT were eligible for CFTRms, which is a significant difference from the CFTR variant profile seen in USA and Europe. However, access to treatment is hampered for some patients whose genes are not analysed. Further studies in CF populations, where rare mutations are relatively more common, will contribute to the field of CFTR modulator treatments for such rare mutations.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"22-30"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627308","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":"Matrix metalloproteinase-7 and matrix metalloproteinase-9 expression is upregulated in congenital lung malformations.","authors":"Ayşe Parlak, Seçil Ak Aksoy, Melis Erçelik, Çağla Tekin, Hülya Öztürk Nazlıoğlu, Berrin Tunca, Arif Nuri Gürpınar","doi":"10.24953/turkjpediatr.2025.5484","DOIUrl":"10.24953/turkjpediatr.2025.5484","url":null,"abstract":"<p><strong>Background: </strong>Congenital lung malformations (CLMs) refer to structural abnormalities of the lungs that occur during fetal development. Matrix metalloproteinases (MMPs) constitute a group of zinc-dependent enzymes, with certain members of this family playing pivotal roles in the remodeling of the lungs both prenatally and postnatally. This study aimed to explore expression levels of MMP-2, MMP-7, and MMP-9 in CLMs which are recognized as pivotal contributors to their clinical pathology.</p><p><strong>Methods: </strong>A total of 41 patients between the ages of 0-17 years that had undergone lung surgery for CLMs between March 2007- July 2023 were analyzed. The demographic features, clinical and pathological findings were recorded. The expression levels of MMP-2, MMP-7 and MMP-9 in patients' tissues were examined by reverse transcription polymerase chain reaction and compared in CLMs and adjacent normal lung tissues.</p><p><strong>Results: </strong>Among patients with CLMs, 12 patients had congenital pulmonary airway malformations (CPAM, one patient had bilateral lesions), 18 patients had bronchopulmonary sequestration (BPS), 7 patients had congenital lobar overinflation (CLO), and 4 patients had bronchogenic cyst (BC). The higher expression of MMP-7 and MMP-9 in all CLM tissues compared to normal tissue was observed. But, there was a trend in MMP-2 expression in CPAM tissues and MMP-2 showed high expression in the BPS, CLO and BC groups, which was not statistically significant. Upon collective analysis of all groups, it was observed that mRNA expressions of MMP-7 and MMP-9 exhibited greater upregulation in CPAM and BC in comparison to BPS and CLO.</p><p><strong>Conclusions: </strong>Our findings indicate a specific involvement of MMP-7 and MMP-9 in the pathogenesis of CLMs, particularly in CPAM and BC. To the best of our knowledge, this research represents the initial demonstration of MMP expression in CLMs.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"31-38"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627275","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":"A rare association of osteogenesis imperfecta and juvenile idiopathic arthritis: case reports and literature review.","authors":"Hatice Kubra Zora, Tuncay Aydin, Aslıhan Uzun Bektas, Sezgin Sahin, Ozgur Kasapcopur, Sara Sebnem Kilic","doi":"10.24953/turkjpediatr.2025.5382","DOIUrl":"10.24953/turkjpediatr.2025.5382","url":null,"abstract":"<p><strong>Background: </strong>Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. The combination of OI and inflammatory arthritis is rare. Our literature review identified 5 cases of OI-related inflammatory arthritis, but only 2 of these cases have been reported in children.</p><p><strong>Case report: </strong>We present 3 cases diagnosed with OI and juvenile idiopathic arthritis (JIA). Two were diagnosed with enthesitis-associated arthritis, and one was diagnosed with oligoarticular JIA with laboratory findings and a magnetic resonance imaging examination. Only one of the patients had a previously diagnosed OI. For the others, whole gene sequence analysis was performed, and a mutation in the collagen type I alpha 1 (COL1A1) gene was detected. Identifying and treating inflammatory arthritis in our patients with OI improved their joint pain.</p><p><strong>Conclusion: </strong>Musculoskeletal pain is a common issue in individuals with OI and JIA. Considering children with OI may also develop arthritis, early diagnosis, and accurate treatment may be crucial. Recognizing the rare association between JIA and OI is important, as investigating this relationship could help alleviate the disease burden. Thorough evaluation and prompt diagnosis of JIA in patients with OI can significantly reduce the impact of the disease.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 2","pages":"273-281"},"PeriodicalIF":0.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228239","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 clinical findings in cases of child sexual abuse.","authors":"Abdülkadir İzci, Ayşe Kurtuluş Dereli, Kemalettin Acar","doi":"10.24953/turkjpediatr.2025.5331","DOIUrl":"10.24953/turkjpediatr.2025.5331","url":null,"abstract":"<p><strong>Background: </strong>Child sexual abuse (CSA) is a severe problem with physical, emotional, social, moral, cultural, and legal dimensions, which is estimated to be quite common worldwide.</p><p><strong>Methods: </strong>In this retrospective study including 262 CSA cases admitted to our outpatient clinic between 2013 and 2022, we examine the characteristics of the victim and the abuse and examination findings in cases of CSA.</p><p><strong>Results: </strong>In our study, most of the victims were females over the age of 12, and most of the suspects were known to the child. Approximately half of the incidents (50.1%) occurred in a home. These data are essential in determining the risk factors of CSA cases and in terms of early detection and timely prevention. Vaginal penetration (40.8%) and anal penetration (32.4%) are frequently present in the history of CSA victims. A history of vaginal penetration was associated with acute and healed laceration findings in the hymen (p.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"11-21"},"PeriodicalIF":0.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627272","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":"Should we give priority to plasma exchange and hyperbaric oxygen treatment before deciding on amputation for severe crush injuries?","authors":"Murat Tanyıldız, Ömer Özden, Karya Şenköylü, İlker Eren, Aysu Çakar, Laşin Özbek, Aslıcan Çakkalkurt, Ilmay Bilge","doi":"10.24953/turkjpediatr.2025.4577","DOIUrl":"10.24953/turkjpediatr.2025.4577","url":null,"abstract":"<p><strong>Background: </strong>The most common medical sequelae after earthquakes are crush injuries and syndromes that require urgent and well-organized care, which further complicates the approach in the face of overstretched resources. The 2023 Kahramanmaraş earthquake, with a magnitude of 7.7, was one of the largest disasters in Türkiye, affecting 11 cities with a population of about 13.5 million people and claiming more than 50,000 deaths. Approximately 4.6 million pediatric patients were affected, with over 500 children undergoing amputations. The overwhelming number of cases rendered further treatment efforts nearly unfeasible.</p><p><strong>Cases: </strong>Here we present three cases of severe crush injuries in which amputation was initially considered in both primary and our tertiary centers but was prevented by a protocol that included therapeutic plasma exchange (TPE) and intensive hyperbaric oxygen treatments (HBOT). Based on our review of the literature, this appears to be the first case series documenting the use of therapeutic plasma exchange (TPE) in the management of crush injury.</p><p><strong>Conclusion: </strong>In extremities at risk for amputation, TPE therapy is crucial to preventing disseminated intravascular coagulation, systemic inflammatory response syndrome, and the accompanying multiorgan failure. It has been shown that extremities at risk for amputation due to poor perfusion can be managed confidently during the safe recovery period of daily TPE therapy with frequent HBOT, anticoagulant and vasodilator treatments, frequent wound care to prevent the development of infection, prophylactic antibiotics, vacuum-assisted closure therapy, and debridement when necessary.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"90-100"},"PeriodicalIF":0.0,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627276","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":"Value of ultrasound in predicting the outcome of conservative treatment of testicular appendage torsion in children.","authors":"Dongling Wu, Chanjuan Wang, Xiuzhen Yang, Jingjing Ye, Jianhua Mao","doi":"10.24953/turkjpediatr.2025.5459","DOIUrl":"10.24953/turkjpediatr.2025.5459","url":null,"abstract":"<p><strong>Background: </strong>The treatment modalities for testicular appendage torsion in children are classified as conservative or surgical, and the choice is controversial.</p><p><strong>Objectives: </strong>This study aimed to identify ultrasound-based indicators influencing the outcome of conservative treatment in children with testicular appendage torsion to divide the boundaries between conservative and surgical management.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on testicular appendage torsion data of children from November 2022 and November 2023 in the Children's Hospital of Zhejiang University School of Medicine to compare the conservatively successful and conservatively unsuccessful groups' clinical and ultrasound characteristics. Furthermore, we constructed a logistic regression model and evaluated its predictive ability.</p><p><strong>Results: </strong>We observed 405 (88.62%) and 52 (11.38%) cases of conservative success and failure, respectively. Univariate analysis indicated significant differences between these groups in testicular appendage torsion nodule size, terminology for hydrocele, scrotal wall edema, and increased epididymal blood flow (p.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"69-77"},"PeriodicalIF":0.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627311","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":"DNA damage in children with β-thalassemia minor: genotoxicity assessment by comet assay.","authors":"Deniz Menderes, Esra Emerce, Tayfun Göktaş, Gonca Çakmak, Deniz Aslan","doi":"10.24953/turkjpediatr.2025.4567","DOIUrl":"10.24953/turkjpediatr.2025.4567","url":null,"abstract":"<p><strong>Background: </strong>In transfusion-dependent forms of β-thalassemia, chronic anemia and iron overload lead to the development of oxidative stress-related DNA damage. In β-thalassemia minor (β-Tm), oxidative stress resulting from an unbalanced globin chain ratio has been documented, even in the absence of anemia and its complications. However, the status of oxidative stress-related DNA damage has not yet been elucidated. The aim of this study was to assess DNA damage in β-Tm in a pediatric population.</p><p><strong>Material and methods: </strong>We compared 142 children with β-Tm to 113 healthy controls, including siblings of the β-Tm individuals. The comet assay was used to assess DNA damage in peripheral blood lymphocytes. Additionally, oxidative stress markers and biochemical parameters were measured.</p><p><strong>Results: </strong>No significant differences were observed between the β-Tm group and controls in terms of demographics, biochemical parameters, or baseline oxidative stress levels (p>0.05). In the comet assay, there was no difference in tail intensity (TI) between subjects and controls, nor between siblings with and without β-Tm (p=0.551 and p=0.655, respectively). However, when the β-Tm group was divided by age, a gradual increase in DNA damage, as measured by TI, was observed. This increase was more pronounced in the β-Tm group compared to controls.</p><p><strong>Conclusion: </strong>We observed no significant differences in DNA damage between β-Tm individuals and controls. However, TI increased at a faster rate with age in carriers compared to non-carriers, suggesting that environmental factors might exert a more pronounced influence on the genetic integrity of individuals with a β-Tm background. Although β-Tm itself does not seem to pose a substantial genotoxic risk in childhood, our findings underscore the importance of further research into the interplay between β-Tm and other risk factors throughout life. We advocate for long-term monitoring of β-Tm children to assess the health and potential genetic consequences.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"39-50"},"PeriodicalIF":0.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627147","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":"Three locally invasive infantile fibrosarcoma cases treated with larotrectinib.","authors":"Hikmet Gülşah Tanyıldız, Yasin Yılmaz, Doğa Dalay, Şifa Şahin, Serap Karaman, Ayşegül Ünüvar, Zeynep Karakaş, Deniz Tuğcu","doi":"10.24953/turkjpediatr.2025.4557","DOIUrl":"10.24953/turkjpediatr.2025.4557","url":null,"abstract":"<p><strong>Background: </strong>Infantile fibrosarcoma is a rapidly growing soft tissue tumor, often managed by surgical resection, with chemotherapy and radiotherapy as additional options. Due to the high local aggressiveness and surgical morbidity, targeted therapies like larotrectinib can enhance quality of life and preserve organs, particularly in limb-threatening cases. Here, we present three cases where larotrectinib prevented mutilating surgeries.</p><p><strong>Cases: </strong>The first patient presented antenatally with a 75 x 48 mm oral floor mass, severely narrowing the airway. Surgery was unfeasible due to invasion of vital organs, and complications arose with conventional chemotherapy. Following detection of an ETV6-NTRK3 fusion, larotrectinib was initiated, resulting in complete regression after two years. The second patient had a 42 x 37 mm right-hand tumor confirmed as infantile fibrosarcoma, for which initial treatment suggested amputation. After identifying an ETV6-NTRK3 fusion and failing to respond to chemotherapy, larotrectinib led to significant regression by year two, preserving hand function. The third patient presented with a 56 x 55 mm right foot mass at birth. Chemotherapy proved ineffective, and larotrectinib was initiated due to an ETV6-NTRK fusion signal, ultimately achieving near total regression within one year and avoiding amputation. All three cases demonstrated successful outcomes with targeted therapy.</p><p><strong>Conclusions: </strong>These cases emphasize the importance of advanced molecular studies, like next-generation sequencing, for childhood tumors and integrating research with clinical trials. tropomyosin receptor kinase inhibitor larotrectinib may offer a safe and effective alternative to chemotherapy for NTRK fusion-positive, metastatic, or unresectable tumors.</p>","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"67 1","pages":"109-116"},"PeriodicalIF":0.0,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143627293","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}