Fetal and Pediatric Pathology最新文献_第4页

Megacystis-Megacolon-Intestinal Hypoperistalsis Syndrome with Intestinal Neuronal Dysplasia: Expanding the Phenotypic Spectrum. 巨囊-巨结肠-肠蠕动不足综合征伴肠神经元发育不良：扩大表型谱。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-01-01 Epub Date: 2025-12-19 DOI: 10.1080/15513815.2025.2587173

Hemlata Jangir, Shailesh Solanki, Nandita Kakkar, J K Mahajan

{"title":"Megacystis-Megacolon-Intestinal Hypoperistalsis Syndrome with Intestinal Neuronal Dysplasia: Expanding the Phenotypic Spectrum.","authors":"Hemlata Jangir, Shailesh Solanki, Nandita Kakkar, J K Mahajan","doi":"10.1080/15513815.2025.2587173","DOIUrl":"10.1080/15513815.2025.2587173","url":null,"abstract":"Background: Megacystitis-megacolon-intestinal hypoperistalsis syndrome is a phenotypic variant of visceral neuromuscular dysfunction. Megacystitis-microcolon-intestinal hypoperistalsis syndrome is a recognized entity. However, presentation with megacolon is rarely reported, with only one case documented in association with intestinal neuronal dysplasia (IND) and malrotation.Case report: We report such a case of Megacystitis-megacolon-intestinal hypoperistalsis coexisting with IND type B and atypical malrotation in a 2-year-old male, presented with intestinal obstruction. Despite multiple surgical interventions, the patient remained TPN-dependent and eventually succumbed to sepsis. Histopathology evaluation revealed hyperganglionosis, including the presence of immature and giant ganglion cells, which supported the diagnosis of IND type B, alongside the features of visceral myopathy.Conclusion: This case highlights the diagnostic and therapeutic complexity posed by overlapping features of megacolon and MMIHS, especially when hyperganglionosis was present. Our case highlights the need for clinico-pathological correlation and genetic analysis in diagnosing complex pediatric motility disorders.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"44-50"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145795173","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

From ChatGPT-4 to ChatGPT-5: Evolving Applications in Pediatric Neoplastic Pathology and Education. 从ChatGPT-4到ChatGPT-5：在儿科肿瘤病理学和教育中的应用

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-01-01 Epub Date: 2025-12-30 DOI: 10.1080/15513815.2025.2607706

Mai He, Jinyi Weng

{"title":"From ChatGPT-4 to ChatGPT-5: Evolving Applications in Pediatric Neoplastic Pathology and Education.","authors":"Mai He, Jinyi Weng","doi":"10.1080/15513815.2025.2607706","DOIUrl":"10.1080/15513815.2025.2607706","url":null,"abstract":"Introduction: Large language models (LLMs) such as ChatGPT are emerging tools in pathology. This study evaluated their diagnostic utility in pediatric neoplastic pathology.Materials and methods: Thirty-three pediatric tumor cases were retrospectively analyzed. Clinical data and histology images were input to ChatGPT-4o (03-06/2025) and GPT-5 (10/2025) for diagnostic suggestions, immunohistochemical (IHC) panels, and report generation. GPT outputs were graded for diagnostic concordance (2 = concordant, 1 = partial, 0 = discordant).Results: ChatGPT-4o achieved at least partial concordance in 27/35 (77.1%) cases (toal and mean score 42, 1.2), with highest accuracy in small round blue cell tumors (SRBCT, 100%) and IHC interpretation accuracy 74.4%. GPT-5 showed 19/33 (57.6%) concordance (total and mean 25, 0.76), highest in SRBCT (87.5%) and IHC accuracy 60.7%. (p < 0.05 between 4o and 5, Mann-Whitney U).Conclusions: ChatGPT demonstrates promise as a diagnostic and educational adjunct in pediatric pathology, though expert oversight and further validation remain essential.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-19"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145858897","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

Violaceous Pretibial Plaques: A Clue to Periodontal Variant of Ehlers-Danlos Syndrome. 侵犯性胫前斑块：埃勒-丹洛斯综合征牙周变异的线索。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-01-01 Epub Date: 2026-01-05 DOI: 10.1080/15513815.2025.2590051

Hadhami Ben Turkia, Manal Alsabbagh, Dalal Burshaid, Yasmine Baili, Lateefa Mohamed Almutawea

{"title":"Violaceous Pretibial Plaques: A Clue to Periodontal Variant of Ehlers-Danlos Syndrome.","authors":"Hadhami Ben Turkia, Manal Alsabbagh, Dalal Burshaid, Yasmine Baili, Lateefa Mohamed Almutawea","doi":"10.1080/15513815.2025.2590051","DOIUrl":"10.1080/15513815.2025.2590051","url":null,"abstract":"Periodontal Ehlers-Danlos Syndrome (pEDS) is a rare autosomal dominant connective tissue disorder with fewer than 200 cases reported. In addition to typical Ehlers-Danlos Syndrome (EDS) features of joint hypermobility, skin fragility and tissue friability, it is characterized by periodontal abnormalities, leading to periodontal bone and teeth loss. The article presents a case of a 10-year-old boy diagnosed with pEDS, exhibiting typical symptoms of violaceous pretibial plaques, hypermobile joints, and periodontal disease with mobile teeth. Additionally, the patient displayed atypical features observed in other types of connective tissue diseases such as mitral valve prolapse, severe myopia, esotropia, tortuous optic nerves and partial empty turcica, suggesting that the phenotypic spectrum of this syndrome may be broader than previously understood. Interestingly, neither of the parents met the diagnostic criteria for pEDS. The article highlights the importance of timely diagnosis of pEDS, as early intervention is crucial in preventing premature tooth loss, and potential systemic complications associated with the syndrome.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"51-58"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145901581","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 Mutations Identify a Clinically Aggressive Subset of Pediatric Rhabdomyosarcoma. BCOR突变确定小儿横纹肌肉瘤的临床侵袭性亚群。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-01-01 Epub Date: 2025-12-08 DOI: 10.1080/15513815.2025.2585050

Lianyuan Yu, Lejian He, Nan Zhang

{"title":"BCOR Mutations Identify a Clinically Aggressive Subset of Pediatric Rhabdomyosarcoma.","authors":"Lianyuan Yu, Lejian He, Nan Zhang","doi":"10.1080/15513815.2025.2585050","DOIUrl":"10.1080/15513815.2025.2585050","url":null,"abstract":"Background: BCOR mutations occur in about 5% in pediatric rhabdomyosarcoma (RMS), their clinical significance and mechanistic roles remain undefined. This study characterizes BCOR-mutant RMS as a molecularly distinct, high-risk subgroup. Methods: Multimodal analysis of four pediatric embryonal RMS cases with BCOR mutations, integrating histopathology, immunohistochemistry, genomic profiling, and clinical outcomes. Results: All patients (ages 1.9-11 years) presented with stage IV fusion-negative ERMS. Histology ranged from conventional (Cases 1,2,4) to undifferentiated (Case 3). IHC revealed: Universal MyoD1 nuclear positivity (70-95%), variable myogenin (5-50%). BCOR protein status potentially related to mutation VAF (15.1-96.16%): aberrant cytoplasmic staining with loss of nuclear expression in frameshift mutants (Case 3) vs. partial retention or completely loss in missense mutants (Cases 1,2,4). Molecular profiling identified recurrent co-alterations (TP53, MDM2/MYC). Despite multimodal therapy, all patients progressed (median EFS 16.5 months), with poorest outcomes in older children (Cases 1,3,4). Conclusions: BCOR mutations may define an aggressive RMS subtype in pediatric group.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"38-43"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145702861","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

An Unusual High-Grade Sarcoma of the Kidney with TPM4::NTRK1 Fusion, CDKN2A/B Deletion, SDHD and NOTCH3 Variants: The First Case Report in Pediatric Population. 伴TPM4::NTRK1融合、CDKN2A/B缺失、sddd和NOTCH3变异的罕见高级别肾脏肉瘤：儿科人群中的首例报告

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-01-01 Epub Date: 2026-01-05 DOI: 10.1080/15513815.2025.2601545

Xia Wei, Lian Chen, Qun Gao, Xianying Lu, Yizhen Wang

{"title":"An Unusual High-Grade Sarcoma of the Kidney with TPM4::NTRK1 Fusion, CDKN2A/B Deletion, SDHD and NOTCH3 Variants: The First Case Report in Pediatric Population.","authors":"Xia Wei, Lian Chen, Qun Gao, Xianying Lu, Yizhen Wang","doi":"10.1080/15513815.2025.2601545","DOIUrl":"10.1080/15513815.2025.2601545","url":null,"abstract":"Background: NTRK-rearranged spindle cell neoplasms (NTRK-RSCNs) are an emerging entity, molecularly characterized by NTRK rearrangements. Advances in molecular testing have revealed that NTRK fusions are prevalent in various tumor types, particularly in soft tissue tumors.Case report: A 5-year-old boy presented with frequent urination and a low fever. Imaging studies showed a large mass in the right kidney. Laboratory tests revealed hypophosphatemia and hypercalcemia. The patient received chemotherapy and radiation followed by nephrectomy. The tumor exhibited diverse high-grade sarcomatous morphological features distinct from common NTRK-RSCNs and was initially diagnosed as a malignant phosphaturic mesenchymal tumor (PMT) without molecular alteration evidence. Subsequent upgraded next-generation sequencing identified a TPM4::NTRK1 fusion, CDKN2A/B deletion, SDHD and NOTCH3 variants. Based on these molecular findings, the diagnosis was confirmed as an NTRK-rearranged high-grade sarcoma with an unusual histomorphological phenotype.Conclusion: This case highlights novel molecular characteristics of NTRK-rearranged high-grade sarcoma and underscores the critical role of comprehensive molecular profiling in diagnosing challenging cases.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"20-27"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145901624","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

In Utero Exposure to Pregabalin: Interest of Meconium Analysis - A Case Report. 子宫内暴露于普瑞巴林：胎粪分析的兴趣-一个病例报告。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-01-01 Epub Date: 2026-01-16 DOI: 10.1080/15513815.2025.2610269

Bounab Moncef, Kolli Imane, Rahmani Lyna, Ettaieb Errahmani Salima, Kaddour Salma

引用次数: 0

Intraplacental Mature Cystic Teratoma. 胎盘内成熟囊性畸胎瘤。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-01-01 Epub Date: 2026-01-02 DOI: 10.1080/15513815.2025.2602090

Audrey Brecher, Alicia Vagnozzi, Louis P Dehner, Mai He

引用次数: 0

Brain Pathology in Terminal Deletion of Chromosome 4 (4q- Syndrome): A Case Report. 4号染色体末端缺失（4q-综合征）的脑病理：1例报告。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-11-01 Epub Date: 2025-11-17 DOI: 10.1080/15513815.2025.2585388

Elvio Della Giustina, Luca Reggiani Bonetti, Tiziana Salviato, Luca Fabbiani, Stefania Caramaschi

{"title":"Brain Pathology in Terminal Deletion of Chromosome 4 (4q- Syndrome): A Case Report.","authors":"Elvio Della Giustina, Luca Reggiani Bonetti, Tiziana Salviato, Luca Fabbiani, Stefania Caramaschi","doi":"10.1080/15513815.2025.2585388","DOIUrl":"10.1080/15513815.2025.2585388","url":null,"abstract":"Background/objectives: To report the complete neuropathologic description of an infant with terminal deletion q31-q35 of chromosome 4 (4q- syndrome), because much published work has been devoted to the genetics of 4q- syndrome and almost nothing to its neuropathology. Most patients with 4q31-4q35 deletion have suggestive phenotypic features and moderate to severe developmental and language delay; rare patients with autistic behavior and facioscapulohumeral muscular dystrophy have been associated with small deletions limited to 4q31 and 4q35, respectively. Materials and methods: Clinically, the patient reported here had severe hypotonia, poor respiratory and feeding autonomy, and undescribed drug-resistant seizures from the first days of life until death at one year of age. A comprehensive neuropathologic examination of the brain was completed with a late muscle biopsy. Results and conclusions: The callosal dysgenesis, paucity of cortical neurons and subependymal germ cells, cerebral and cerebellar neuronal heterotopies, and suggestive muscular findings in this new patient may broaden the understanding of the clinical features.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"542-550"},"PeriodicalIF":0.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145543653","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

Evaluating the sFlt1 Mouse Model of Preeclampsia: Benefits and Limitations for Understanding Human Disease. 评估sFlt1小鼠子痫前期模型：了解人类疾病的益处和局限性

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-11-01 Epub Date: 2025-09-19 DOI: 10.1080/15513815.2025.2558605

David M Aronoff, Jean W Wassenaar, Meena S Madhur

{"title":"Evaluating the sFlt1 Mouse Model of Preeclampsia: Benefits and Limitations for Understanding Human Disease.","authors":"David M Aronoff, Jean W Wassenaar, Meena S Madhur","doi":"10.1080/15513815.2025.2558605","DOIUrl":"10.1080/15513815.2025.2558605","url":null,"abstract":"Preeclampsia (PE) remains a leading cause of maternal and neonatal morbidity and mortality globally. Among several experimental models developed to interrogate the pathogenesis of PE, the mouse model employing systemic infusion or transgenic overexpression of soluble fms-like tyrosine kinase-1 (sFlt1) has gained widespread use due to its capacity to induce cardinal features of the human disease. These include maternal hypertension, renal injury, endothelial dysfunction, placental abnormalities, fetal growth restriction, and adverse long-term outcomes. This review critically evaluates the sFlt1-based mouse model of PE, highlighting its utility for understanding the pathogenesis of angiogenic imbalance and its sequelae. We contrast findings from this model with clinical observations in human PE and discuss applications for studying early-onset versus late-onset forms. Finally, we address limitations and propose strategies to enhance its translational relevance. Placing the model in the context of human disease helps guide its use in future preclinical and translational research.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"573-582"},"PeriodicalIF":0.8,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12967229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145088051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Fetus in Fetu Presenting as a Second Head: A Rare Case Report with Pathologic Correlation. 胎中胎儿表现为第二头：一例罕见病例报告与病理相关。

IF 0.6 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-11-01 Epub Date: 2025-11-07 DOI: 10.1080/15513815.2025.2585373

Manuella Araújo Couto, Gustavo Yano Callado, Edward Araujo Júnior, Ana Elisa Rodrigues Baião, Cecilia Vianna Andrade, Fernando Maia Peixoto-Filho

{"title":"Fetus in Fetu Presenting as a Second Head: A Rare Case Report with Pathologic Correlation.","authors":"Manuella Araújo Couto, Gustavo Yano Callado, Edward Araujo Júnior, Ana Elisa Rodrigues Baião, Cecilia Vianna Andrade, Fernando Maia Peixoto-Filho","doi":"10.1080/15513815.2025.2585373","DOIUrl":"10.1080/15513815.2025.2585373","url":null,"abstract":"Background: Fetus in fetu (FIF) is a rare congenital anomaly in which a malformed parasitic twin is enclosed within its host, usually in the retroperitoneum. Oral presentation is extremely rare, with few cases described. Differentiation from teratomas, particularly epignathus, is challenging but crucial for prognosis and management.Case presentation: An 18-year-old gravida 3, para 2 was referred at 26 weeks for suspected epignathus. Ultrasound showed a large oropharyngeal mass, polyhydramnios, omphalocele, diaphragmatic hernia, and cardiac anomalies. Fetal demise occurred at 32 weeks. Postmortem examination revealed a second head-like mass with skin, cranial bones, facial features, and cerebral tissue. Histopathology confirmed highly organized fetiform mass consistent with FIF despite absence of vertebral axis.Conclusion: This is a rare case of oral FIF entirely comprising a second head and associated with major host anomalies. Awareness of this entity is essential for accurate diagnosis and perinatal planning when airway compromise is anticipated.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"604-612"},"PeriodicalIF":0.6,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460282","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