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Fetal and Pediatric Pathology最新文献

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Extensive Cystic lymphatic malformation with PIK3CA-Related Overgrowth Spectrum: Prenatal Diagnosis and Autopsy Findings in 3 Fetal Cases. 广泛囊性淋巴畸形伴pik3ca相关过度生长谱：3例胎儿的产前诊断和尸检结果
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-24 DOI: 10.1080/15513815.2025.2496413
M Sarreau, F Pelluard, S Martin Berenguer, F Sauvestre, F Coatleven, F Cardinaud, L Guibaud, S Collardeau Frachon
{"title":"Extensive Cystic lymphatic malformation with PIK3CA-Related Overgrowth Spectrum: Prenatal Diagnosis and Autopsy Findings in 3 Fetal Cases.","authors":"M Sarreau, F Pelluard, S Martin Berenguer, F Sauvestre, F Coatleven, F Cardinaud, L Guibaud, S Collardeau Frachon","doi":"10.1080/15513815.2025.2496413","DOIUrl":"10.1080/15513815.2025.2496413","url":null,"abstract":"<p><strong>Objective: </strong>To describe and discuss prenatal imaging and post-termination pathological features of extensive cystic lymphatic malformation (CLM) associated with PIK3CA mutation of PROS.</p><p><strong>Methods: </strong>We reviewed prenatal imaging and pathological features of three cases of extensive CLM involving the inferior limb extending on the body diagnosed in the second trimester, which were terminated based on the anatomical extension of this vascular malformation.</p><p><strong>Results: </strong>Major asymmetrical soft tissue limb hypertrophy associated with extremities anomalies as well as cystic soft tissue infiltration extending to the body were present in the three cases without any cerebral anomalies. Foetopathological examination performed after TOP confirmed prenatal features, which were suggestive of PROS. Molecular analysis of affected tissues revealed an activating somatic mutation of the PIK3CA gene in all cases.</p><p><strong>Conclusion: </strong>Such prenatal diagnosis is crucial for prenatal counseling in the light of promising targeted therapy leading to orientate the couple.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"411-427"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144477678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
BCOR-Altered Sarcoma in a 6-Month-Old: Diagnostic Challenges and Morphological Insights. 6个月大的bcor改变肉瘤：诊断挑战和形态学见解。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-03 DOI: 10.1080/15513815.2025.2512344
Shiv Shankar Verma, Lavleen Singh, Aditya Gupta
{"title":"BCOR-Altered Sarcoma in a 6-Month-Old: Diagnostic Challenges and Morphological Insights.","authors":"Shiv Shankar Verma, Lavleen Singh, Aditya Gupta","doi":"10.1080/15513815.2025.2512344","DOIUrl":"10.1080/15513815.2025.2512344","url":null,"abstract":"<p><p>BCOR-altered sarcomas (BAS) are a subset of undifferentiated small round cell sarcomas characterized by alterations involving the BCOR gene. These tumors often pose diagnostic challenges due to their morphological overlap with other pediatric neoplasms. We report a case of BAS in an infant presenting with bilateral lower limb weakness. Imaging revealed a large multilobulated retroperitoneal mass. Histopathology showed prominent rhabdoid cells, alongside small round cells and spindle cells in a fascicular pattern. The tumor was positive for BCOR, Cyclin D1, TLE-1, BCL-6, and SATB2, while INI1 and BRG expression were retained. Fluoresence in situ hybridization, ruled out BCOR::CCNB3 fusion and NTRK 1/2/3 rearrangements. Based on the histopathological, immunophenotypic, and molecular profile, a diagnosis of BAS was established. The patient was started on a Ewing sarcoma chemotherapy regimen, showing a favourable response. This case highlights that BAS may rarely show a prominent rhabdoid feature and utility of ancillary diagnostic modalities.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"333-338"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Red Blood Cell Disorders in Newborns: Bridging Traditional and Modern Diagnostics. 新生儿红细胞疾病：连接传统和现代诊断。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-05-19 DOI: 10.1080/15513815.2025.2503178
Vida Shirani Asl, Gholamhossein Tamaddon
{"title":"Red Blood Cell Disorders in Newborns: Bridging Traditional and Modern Diagnostics.","authors":"Vida Shirani Asl, Gholamhossein Tamaddon","doi":"10.1080/15513815.2025.2503178","DOIUrl":"10.1080/15513815.2025.2503178","url":null,"abstract":"<p><strong>Background: </strong>Neonatal red blood cell (RBC) disorders encompass a diverse range of inherited and acquired conditions with significant clinical implications. Due to the unique morphological and biochemical characteristics of neonatal erythrocytes, accurate diagnosis is often challenging but critical for effective management.</p><p><strong>Objective: </strong>This review aims to synthesize current knowledge on the diagnosis of neonatal RBC disorders, highlighting the integration of traditional morphological analysis with advanced biochemical and molecular techniques.</p><p><strong>Methods: </strong>A comprehensive literature review was conducted to examine diagnostic approaches to neonatal enzymopathies, membrane disorders, and hemoglobinopathies. The roles of peripheral blood smear (PBS) analysis, enzyme activity assays, and genetic testing-including next-generation sequencing (NGS)-were evaluated in the context of current clinical practice.</p><p><strong>Discussion: </strong>Peripheral blood smear examination remains a foundational tool for identifying characteristic RBC morphologies. Enzymatic deficiencies such as G6PD and pyruvate kinase deficiency, membrane disorders including hereditary spherocytosis and elliptocytosis, and hemoglobinopathies such as thalassemias and sickle cell disease require integrated diagnostic strategies. Advances in molecular diagnostics have enhanced diagnostic precision and expanded the ability to perform early, genotype-driven interventions.</p><p><strong>Conclusions: </strong>A multidisciplinary diagnostic approach that combines morphology, biochemistry, and genetics is essential for the accurate identification and management of neonatal RBC disorders. Bridging traditional microscopy with modern genomic tools offers the potential for earlier diagnosis, personalized treatment, and improved clinical outcomes in neonatal hematology.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"383-410"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fetal NT-proBNP Concentrations in Response to Maternal Anemia: A Study of Term Pregnancies. 胎儿NT-proBNP浓度对母体贫血的反应：足月妊娠的研究。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-14 DOI: 10.1080/15513815.2025.2507254
Kadriye Erdogan, Izzet Ozgurluk, Dilara Kurt, Aslihan Coskun, Zeynep Seyhanli, Ahmet Kurt, Sevinc Cetin, İsmail Burak Gultekin, Busra Korpe
{"title":"Fetal NT-proBNP Concentrations in Response to Maternal Anemia: A Study of Term Pregnancies.","authors":"Kadriye Erdogan, Izzet Ozgurluk, Dilara Kurt, Aslihan Coskun, Zeynep Seyhanli, Ahmet Kurt, Sevinc Cetin, İsmail Burak Gultekin, Busra Korpe","doi":"10.1080/15513815.2025.2507254","DOIUrl":"10.1080/15513815.2025.2507254","url":null,"abstract":"<p><strong>Objective: </strong>This study evaluates fetal N-terminal pro-B-type natriuretic peptide (NT-proBNP) concentrations in umbilical cord blood from anemic versus non-anemic term pregnancies.</p><p><strong>Materials and methods: </strong>In this prospective case-control study, 90 pregnant women were divided into two groups: 45 with maternal anemia and 45 without. Umbilical cord blood NT-proBNP concentrations were analyzed, and maternal data including hemoglobin and ferritin levels were collected.</p><p><strong>Results: </strong>NT-proBNP concentrations were significantly higher in the anemia group (844.42 ± 746.9 pg/mL vs 510.87 ± 378.52 pg/mL, <i>p</i> = 0.01). Maternal ferritin levels were significantly lower in the anemia group (10.02 ± 6.81 vs 37.02 ± 9.79, <i>p</i> < 0.001). A significant inverse relationship was found between hemoglobin and NT-proBNP concentrations (β = -76.27, <i>p</i> < 0.001).</p><p><strong>Conclusion: </strong>Elevated NT-proBNP concentrations in anemic pregnancies suggest a compensatory fetal response to hypoxia, highlighting its potential as a marker for fetal cardiovascular adaptation.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"312-321"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evolving Concepts in Etiology of Biliary Atresia: Insights and Perspectives from India. 胆道闭锁病因学概念的演变：来自印度的见解和观点。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-03 DOI: 10.1080/15513815.2025.2477704
Anil Kumar Ram, Akshit Vats, Alka Bhatia, Yashwant Kumar
{"title":"Evolving Concepts in Etiology of Biliary Atresia: Insights and Perspectives from India.","authors":"Anil Kumar Ram, Akshit Vats, Alka Bhatia, Yashwant Kumar","doi":"10.1080/15513815.2025.2477704","DOIUrl":"10.1080/15513815.2025.2477704","url":null,"abstract":"<p><p><b>Introduction</b>: Biliary atresia (BA) is a potentially fatal newborn cholestatic disease. It is a rapidly advancing fibro-obliterative cholangiopathy that leads to liver failure and death if not treated early. The well-known multihit hypothesis proposes that viral or chemical disruption to the biliary epithelium triggers an immune-mediated inflammatory response, resulting in fibrosis and blockage of the intra and extrahepatic biliary systems. <b>Methods:</b> In recent years, several papers have noticed an upsurge in many aspects of BA, particularly its etiopathogenesis, which has opened a vista of various probable mechanisms currently being examined. This review brings them together with an emphasis on reflecting current scientific views for those interested in this illness. <b>Conclusions:</b> Among the different etiological factors proposed for BA, viruses and immune-mediated injury are the strongest contenders as contributors to the disease onset and pathogenesis.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"236-258"},"PeriodicalIF":0.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of Cardiac Functions in Neonates with Hypoxic Ischemic Encephalopathy. 新生儿缺氧缺血性脑病心功能的评价。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-21 DOI: 10.1080/15513815.2025.2490029
Leyla Sero, Duygu Tuncel, Mehmet Nur Talay, Mehmet Salih Karaca, Ozlem Gul, Nilufer Okur
{"title":"Evaluation of Cardiac Functions in Neonates with Hypoxic Ischemic Encephalopathy.","authors":"Leyla Sero, Duygu Tuncel, Mehmet Nur Talay, Mehmet Salih Karaca, Ozlem Gul, Nilufer Okur","doi":"10.1080/15513815.2025.2490029","DOIUrl":"10.1080/15513815.2025.2490029","url":null,"abstract":"<p><p><b>Introduction:</b> The aim of our study was to evaluate the role of cardiac markers in determining prognosis in newborns with Perinatal Asphyxia (PA). <b>Method:</b> Patients with a pH <7-7.15 base deficit -12> mmol/L were defined as PA. NT-proBNP, cardiac Troponin I (cTnI), creatine kinase MB levels were analyzed. Patients with excitus during follow-up were compared with patients with pathological MRI findings and cardiac markers. <b>Results:</b> A total of 115 infants with perinatal asphyxia were included in the study.cTnI levels was median 0.63 (min 0.1-max 4.2) ng/ml significantly higher in patients who died (<i>p</i> = .006). The predictive power of cTnI was evaluated and the threshold value of cTnI for predicting mortality was determined as 0.428 ng/ml with 87.5% sensitivity and 87.2% specificity. <b>Conclusion:</b> We found that cTnI level analyzed in the first hours of life in newborn infants with PA has value in predicting both mortality and cranial affections.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"206-214"},"PeriodicalIF":0.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Opening of the Mitochondrial Permeability Transition Pore Mediated Myocardial Damage After Perinatal Asphyxia in Neonatal Rats. 新生大鼠围产期窒息后线粒体通透性过渡孔开放介导的心肌损伤。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-02-24 DOI: 10.1080/15513815.2025.2466804
Zhixin Chen, Jianqin Chen, Yongheng Chen, Xiaoyi Fang
{"title":"Opening of the Mitochondrial Permeability Transition Pore Mediated Myocardial Damage After Perinatal Asphyxia in Neonatal Rats.","authors":"Zhixin Chen, Jianqin Chen, Yongheng Chen, Xiaoyi Fang","doi":"10.1080/15513815.2025.2466804","DOIUrl":"10.1080/15513815.2025.2466804","url":null,"abstract":"<p><strong>Objectives: </strong>This study investigated the mechanisms underlying myocardial damage after perinatal hypoxia.</p><p><strong>Methods: </strong>An intrauterine hypoxia-ischemia model (I/U HI) and a hypoxia/reoxygenation (H/R) model were established. Myocardial damage, mitochondrial function, and mitochondria permeability transition pore (MPTP) opening were determined. The results, presented as means ± SD, were analyzed using SPSS.</p><p><strong>Results: </strong>Intrauterine hypoxia induced cardiac damage, mitochondrial dysfunction, and MPTP opening in neonatal rats. H/R led to apoptosis and MPTP opening. cTnI and apoptosis-inducing factor (AIF) levels were positively correlated with the degree of MPTP opening. The larger degree of MPTP opening combined with the significant increases in the Ca<sup>2+</sup>, ROS, and decreases in mitochondrial membrane potential and ATP levels. The larger degree of MPTP opening combined with the stronger release of cytochrome c and AIF.</p><p><strong>Conclusions: </strong>Increased MPTP opening may play a crucial role in perinatal asphyxia-induced myocardial damage in neonatal rats.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"177-195"},"PeriodicalIF":0.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hirschsprung Disease with Prenatal Signs: Case Report and Review of the Literature. 伴有产前体征的先天性巨结肠疾病：病例报告及文献回顾。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-03-20 DOI: 10.1080/15513815.2025.2476459
C Marchetto, G Bracalente, P Midrio
{"title":"Hirschsprung Disease with Prenatal Signs: Case Report and Review of the Literature.","authors":"C Marchetto, G Bracalente, P Midrio","doi":"10.1080/15513815.2025.2476459","DOIUrl":"10.1080/15513815.2025.2476459","url":null,"abstract":"<p><p><b>Introduction:</b> Hirschsprung's disease (HD) is diagnosed postnatally, mainly by means of a rectal biopsy. During pregnancy a few signs have been scattered reported that, in retrospect, where suggestive for HD. The aim of the study was to provide a review of the literature on prenatal signs, with a new case. <b>Methods:</b> A systematic and manual search of the literature using the keywords \"prenatal diagnosis, meconium peritonitis, Hirschsprung disease\" was conducted on PUBMED, Scopus, and SCIE (Web of Science). <b>Results:</b> Following the PRISMA guidelines, 8 articles were retrieved that describe a total of 11 cases of prenatal signs suggestive of HD. The case of a fetus with meconium peritonitis and hereditary trigonocephaly is reported. <b>Conclusion:</b> The literature is very scanty on prenatal signs or symptoms suggestive for HD. The association of HD and craniostenosis has been previously reported, but the present case is unique due to the concurrent presence of meconium peritonitis and hereditary trigonocephaly.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"228-235"},"PeriodicalIF":0.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thoracic Giant Venous Malformation in a Stillbirth with Pik3ca Somatic Mutation. Pik3ca体细胞突变的死胎胸部巨静脉畸形。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-24 DOI: 10.1080/15513815.2025.2493721
Nunzio Cosimo Mario Salfi, Sabrina Gismondi, Anna Martinelli, Elisa Tidu, Patrizio Giovanni Maria Antonazzo, Stefano Faiola, Mariano Matteo Lanna, Elisa Cattaneo, Enrico Farnetti, Davide Nicoli, Maria Paola Bonasoni
{"title":"Thoracic Giant Venous Malformation in a Stillbirth with <i>Pik3ca</i> Somatic Mutation.","authors":"Nunzio Cosimo Mario Salfi, Sabrina Gismondi, Anna Martinelli, Elisa Tidu, Patrizio Giovanni Maria Antonazzo, Stefano Faiola, Mariano Matteo Lanna, Elisa Cattaneo, Enrico Farnetti, Davide Nicoli, Maria Paola Bonasoni","doi":"10.1080/15513815.2025.2493721","DOIUrl":"10.1080/15513815.2025.2493721","url":null,"abstract":"<p><p><b>Introduction:</b> Congenital venous malformations (VMs) are typically located in the skin of the head and neck, but extension to deep tissues and visceral organs may occur. In 20% of cases, sporadic VMs are caused by somatic mutations in the <i>PIK3CA</i> gene, which determines aberrant angiogenesis. <b>Case report:</b> Intrauterine death of a fetus with a known extensive vascular lesion of the right hemithorax occurred at 28 weeks + 6 days. Autopsy revealed abundant bilateral pleural effusions, and histology showed a VM. High-depth next-generation sequencing for <i>PIK3CA</i> and <i>TEK</i> on amniocytes was negative. Postmortem real-time polymerase chain reaction for <i>PIK3CA</i> on paraffin-embedded samples of the lesion revealed somatic p.H1047X hotspot mutation in the exon 20. <b>Conclusion:</b> To the best of our knowledge, this is the first case of a VM in a stillbirth. Extensive lesions carry a high risk of fetal demise due to high-output cardiac failure.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"273-282"},"PeriodicalIF":0.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thymic Lymphoepithelial Carcinoma in Children: Report of Four Cases and Review of Literature. 儿童胸腺淋巴上皮癌4例报告并文献复习。
IF 0.7 4区 医学
Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-17 DOI: 10.1080/15513815.2025.2486838
Lili He, Yaru Xu, Dantong Miao, Xiaoyi Zhang
{"title":"Thymic Lymphoepithelial Carcinoma in Children: Report of Four Cases and Review of Literature.","authors":"Lili He, Yaru Xu, Dantong Miao, Xiaoyi Zhang","doi":"10.1080/15513815.2025.2486838","DOIUrl":"10.1080/15513815.2025.2486838","url":null,"abstract":"<p><p><b>Background:</b> Thymic lymphoepithelial carcinoma (TLEC) is a rare subtype of thymic carcinoma that primarily affects middle-aged and older adults and is extremely rare in children. We present four cases of TLEC in children and reviewed the pertinent literature to investigate the clinical and pathological characteristics. <b>Case Report:</b> All four patients are male, with an average age of 10 years (range: 9-13 years). Imaging studies consistently showed an anterior mediastinal mass with a diameter of 5-15 cm. Serum EB virus (EBV) antigen was positive in three patients. Three patients were at Masaoka stage IIb and all survived after surgery, while one patient at Masaoka stage IV died nine months after surgery. <b>Discussion:</b> Males are more likely than females to be affected by the TLEC, which mainly affects older kids. Immunohistochemistry and <i>in situ</i> hybridization tests are useful for diagnosis, and the tumor's occurrence is tightly linked to EBV infection.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"196-205"},"PeriodicalIF":0.7,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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