Fetal and Pediatric Pathology最新文献

Metastatic Neuroblastoma Arising in an Ovarian Immature Teratoma in a 16-Year-Old Female: A Case Report. 转移性神经母细胞瘤发生于16岁女性卵巢未成熟畸胎瘤1例报告。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-09-28 DOI: 10.1080/15513815.2026.2735833

George Huang, Lauren Bothwell, Kayeleigh Higgerson, Dina Kokh, Amy Coffey, Alan Rampy

{"title":"Metastatic Neuroblastoma Arising in an Ovarian Immature Teratoma in a 16-Year-Old Female: A Case Report.","authors":"George Huang, Lauren Bothwell, Kayeleigh Higgerson, Dina Kokh, Amy Coffey, Alan Rampy","doi":"10.1080/15513815.2026.2735833","DOIUrl":"https://doi.org/10.1080/15513815.2026.2735833","url":null,"abstract":"Background: Neuroblastoma arising within an ovarian immature teratoma is exceptionally rare, with only three prior cases reported and only one in a pediatric patient. Patient: We describe a 16-year-old female with a large ovarian mass. Histopathologic evaluation showed an immature teratoma containing tissues from all three germ layers with immature neuroepithelium. A distinct primitive cell population was noted with findings supporting a diagnosis of poorly differentiated neuroblastoma arising within the teratoma. Extraovarian involvement was identified on peritoneal surfaces and in a regional lymph node. Tumor genetic analysis demonstrated 17q gain, consistent with higher-risk neuroblastoma. She initially received bleomycin, cisplatin, and etoposide per AGCT1531 before transitioning to intermediate-risk neuroblastoma therapy per ANBL0531. Post-treatment imaging showed no definitive recurrent disease, and she remains under surveillance. Conclusions: This case highlights a rare pediatric example of neuroblastoma arising within an ovarian immature teratoma with extraovarian involvement, offering clinically relevant diagnostic, pathologic, and therapeutic insights.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-9"},"PeriodicalIF":0.8,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149070573","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

Presence of Chorionic Villi Does Not Exclude Choriocarcinoma: A Case Report of Early Choriocarcinoma Associated with a Complete Hydatidiform Mole. 绒毛膜绒毛的存在并不能排除绒毛膜癌：早期绒毛膜癌伴完全葡萄胎1例报告。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-09-25 DOI: 10.1080/15513815.2026.2735832

Shah J, Kostadinov S, Barak S

{"title":"Presence of Chorionic Villi Does Not Exclude Choriocarcinoma: A Case Report of Early Choriocarcinoma Associated with a Complete Hydatidiform Mole.","authors":"Shah J, Kostadinov S, Barak S","doi":"10.1080/15513815.2026.2735832","DOIUrl":"https://doi.org/10.1080/15513815.2026.2735832","url":null,"abstract":"Background: Gestational choriocarcinoma is a highly aggressive trophoblastic neoplasm. Historically, the presence of chorionic villi was considered discordant with the diagnosis of choriocarcinoma. We report a case of early gestational choriocarcinoma arising in a post-molar setting with residual chorionic villi, creating a diagnostic pitfall. Case report: a 51-year-old woman with a prior complete hydatidiform mole showed plateauing β-human chorionic gonadotropin (ß-hCG) levels. She underwent total laparoscopic hysterectomy. Histologic examination of the uterine mass revealed a malignant biphasic-to-triphasic trophoblastic proliferation with marked atypia, brisk mitotic activity, extensive hemorrhage, and necrosis, situated immediately adjacent to a single residual molar villus. Immunohistochemistry showed strong β-human chorionic gonadotropin expression in syncytiotrophoblasts, a elevated Ki-67 index (∼80%), focal human placental lactogen (hpL) expression, and absence of p63 staining, confirming choriocarcinoma and excluding other trophoblastic tumors. Conclusion: this case demonstrates that the presence of chorionic villi does not exclude a diagnosis of choriocarcinoma and underscores the necessity of rigorous clinicopathologic correlation.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-10"},"PeriodicalIF":0.8,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149065705","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

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-09-02 DOI: 10.1080/15513815.2026.2726271

Khdir H Hamad, Sadraldin A Braim, Dyari Q Hamad, Shadan A Hamad, Karukh K Mohammed, Honar O Kareem, Karzan M Hasan, Bilal A Mohammed, Ayman M Mustafa, Fahmi H Kakamad

{"title":"MICOS13-Related Combined Oxidative Phosphorylation Deficiency 37: A Case Report and Systematic Review of the Literature.","authors":"Khdir H Hamad, Sadraldin A Braim, Dyari Q Hamad, Shadan A Hamad, Karukh K Mohammed, Honar O Kareem, Karzan M Hasan, Bilal A Mohammed, Ayman M Mustafa, Fahmi H Kakamad","doi":"10.1080/15513815.2026.2726271","DOIUrl":"https://doi.org/10.1080/15513815.2026.2726271","url":null,"abstract":"Background: Mitochondrial Contact Site and Cristae Organizing System (MICOS13)- related combined oxidative phosphorylation deficiency 37 is a rare autosomal recessive disorder caused by disruption of mitochondrial structure and function, leading to early-onset multisystem disease. Case report: A genetically confirmed case is described in a 5-month-old female infant born to consanguineous Iraqi parents, presenting with hypotonia, developmental delay, feeding difficulties, laryngomalacia, and recurrent cyanotic episodes. Clinical findings included diminished reflexes and a small atrial septal defect, while laboratory tests revealed hypoalbuminaemia and mild coagulopathy. Whole-exome sequencing identified a homozygous MICOS13 splice-site variant (c.260-2A >G). Despite supportive care, progressive respiratory failure developed, resulting in death at 5months. Review of 13 reported cases demonstrates consistent early onset, universal hepatic and neurological involvement, frequent respiratory compromise, and, among reported cases, uniformly fatal outcomes. Most identified variants are loss-of-function, predominantly frameshift, with no missense variants reported to date.Conclusion: The present report adds a genetically confirmed case and reinforces the value of considering MICOS13 deficiency in consanguineous infants with early encephalopathy and hepatic dysfunction.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-15"},"PeriodicalIF":0.8,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148882365","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

Central Nervous System Infections in Sudden Unexpected Death in Infancy: A Systematic Review of Autopsy-Based Pediatric Pathology. 婴儿猝死的中枢神经系统感染：基于尸检的儿科病理学系统综述。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-08-28 DOI: 10.1080/15513815.2026.2722660

Jessika Camatti, Anna Laura Santunione, Rossana Cecchi, Edoardo Carretto, Erjon Radheshi, Maria Paola Bonasoni

{"title":"Central Nervous System Infections in Sudden Unexpected Death in Infancy: A Systematic Review of Autopsy-Based Pediatric Pathology.","authors":"Jessika Camatti, Anna Laura Santunione, Rossana Cecchi, Edoardo Carretto, Erjon Radheshi, Maria Paola Bonasoni","doi":"10.1080/15513815.2026.2722660","DOIUrl":"https://doi.org/10.1080/15513815.2026.2722660","url":null,"abstract":"Introduction: Sudden unexpected death in infancy (SUDI) remains a major challenge in pediatric and forensic medicine. While infections are recognized contributors, the specific role of central nervous system (CNS) infections identified at autopsy has not been systematically evaluated.Materials and methods: A systematic review was conducted in accordance with PRISMA 2020 guidelines. PubMed/MEDLINE and Scopus were searched without a lower publication-date restriction through 6 April 2026. Studies reporting cases of SUDI associated with CNS infection were included.Results: Sixteen studies met the inclusion criteria. A wide range of pathogens was identified. CNS involvement ranged from severe necrotizing meningoencephalitis to mild leptomeningeal inflammation associated with systemic infection. While some infections were diagnosed only during postmortem investigation, others occurred in infants with preceding clinical manifestations.Conclusions: CNS infectious pathology represents a heterogeneous autopsy-detected contributor to SUDI, ranging from clearly causal infections to findings whose precise contribution to death remains uncertain.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-16"},"PeriodicalIF":0.8,"publicationDate":"2026-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148841981","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

Retrovesical Hybrid Benign Peripheral Nerve Sheath Tumor with a Heterozygous Germline NF2 Deletion in a 12-Year-Old Boy: A Case Report. 12岁男孩后膀胱混合型良性外周神经鞘肿瘤伴杂合子种系NF2缺失一例报告。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-08-20 DOI: 10.1080/15513815.2026.2713539

Mehmet Can, Ayşe Gül Tavukçu Tantay, Tolga Yüksel, Özkan Okur, Filiz Hazan, Durdugül Ayyıldız Emecen

{"title":"Retrovesical Hybrid Benign Peripheral Nerve Sheath Tumor with a Heterozygous Germline NF2 Deletion in a 12-Year-Old Boy: A Case Report.","authors":"Mehmet Can, Ayşe Gül Tavukçu Tantay, Tolga Yüksel, Özkan Okur, Filiz Hazan, Durdugül Ayyıldız Emecen","doi":"10.1080/15513815.2026.2713539","DOIUrl":"https://doi.org/10.1080/15513815.2026.2713539","url":null,"abstract":"Background: Hybrid benign peripheral nerve sheath tumors (BPNSTs) combine schwannomatous, neurofibromatous, and/or perineuriomatous components and are frequently associated with NF2-related schwannomatosis. Pediatric cases at retrovesical sites have not previously been reported. Case report: A 12-year-old boy presented with one-year voiding difficulty. Pelvic magnetic resonance imaging showed an indeterminate 27 × 33 mm retrovesical lesion in the seminal vesicle region. Laparoscopic excision yielded a solid mass composed of distinct schwannomatous and neurofibromatous components. The schwannomatous areas were strongly S-100 positive and CD34 negative, whereas the neurofibromatous areas showed patchy S-100 and diffuse CD34 positivity; factor XIIIa was more extensive in the neurofibromatous component. Ki-67 was 3%, without necrosis or mitoses. Multiplex ligation-dependent probe amplification identified a heterozygous germline NF2 deletion (upstream-exon 9). At 6 months, the patient was symptom-free without recurrence. Conclusion: Hybrid BPNST should be considered in pediatric indeterminate retrovesical masses; integrated histopathologic, immunohistochemical, and molecular analysis-including germline NF2-guides diagnosis and long-term surveillance.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-10"},"PeriodicalIF":0.8,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148800974","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

Artificial Intelligence, Machine Learning, and Multi-Omics Biomarker Discovery in Ectopic Pregnancy: A Comprehensive Review. 人工智能、机器学习和多组学生物标志物在异位妊娠中的发现：综合综述。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-08-10 DOI: 10.1080/15513815.2026.2713544

Zahra Ghorbaninejad Kouhbanani, Muhammad Ali

{"title":"Artificial Intelligence, Machine Learning, and Multi-Omics Biomarker Discovery in Ectopic Pregnancy: A Comprehensive Review.","authors":"Zahra Ghorbaninejad Kouhbanani, Muhammad Ali","doi":"10.1080/15513815.2026.2713544","DOIUrl":"https://doi.org/10.1080/15513815.2026.2713544","url":null,"abstract":"Background: Ectopic pregnancy is a major cause of first-trimester maternal morbidity and mortality, with diagnosis and management posing persistent clinical challenges. This review evaluates the emerging role of artificial intelligence, machine learning, and multi-omics technologies in enhancing diagnosis, treatment prediction, biomarker discovery, and surgical care.Materials and methods: A synthesis of 52 studies (1988-2026) was conducted, assessing machine learning algorithms, proteomic and metabolomic panels, multi-omics integrations, and robotic-assisted surgical outcomes using performance metrics including AUC, sensitivity, and specificity.Results: Machine learning models achieved AUC values up to 0.929 for methotrexate failure prediction and surgical accuracies exceeding 98%. Biomarker panels combining sphingolipids and carnitines demonstrated 100% sensitivity and 95.9% specificity. Multi-omics uncovered GATA4-mediated ITGB3 dysregulation in cesarean scar pregnancy. Robotic-assisted techniques yielded cumulative pregnancy rates over 60% post-reanastomosis.Conclusion(s): AI and multi-omics integration offer significant promise for personalized ectopic pregnancy management. However, retrospective designs and small sample sizes limit generalizability, underscoring the need for prospective multicenter validation before routine clinical adoption.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-23"},"PeriodicalIF":0.8,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148708380","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

Extensive Biventricular Subendocardial Infarction with Cardiogenic Shock as Secondary Brain Hit in an Asphyxiated Neonate-Case Report. 广泛双室心内膜下梗死伴心源性休克继发性脑休克1例窒息新生儿病例报告。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-08-05 DOI: 10.1080/15513815.2026.2713537

María José Rodríguez-Castaño, Niki Oikonomopoulou, Irene Cuadrado, Melchor Saiz-Pardo, Luis Arruza

{"title":"Extensive Biventricular Subendocardial Infarction with Cardiogenic Shock as Secondary Brain Hit in an Asphyxiated Neonate-Case Report.","authors":"María José Rodríguez-Castaño, Niki Oikonomopoulou, Irene Cuadrado, Melchor Saiz-Pardo, Luis Arruza","doi":"10.1080/15513815.2026.2713537","DOIUrl":"https://doi.org/10.1080/15513815.2026.2713537","url":null,"abstract":"Background: Acute myocardial infarction (MI) is an uncommon finding in the neonatal period, as well as in cases of hypoxic-ischemic encephalopathy (HIE). Case report: We report the case of a full-term newborn with HIE who developed extensive myocardial infarction secondary to perinatal asphyxia, accompanied by progressive neurological deterioration. Despite early initiation of therapeutic hypothermia (TH) and intensive supportive care, the infant developed refractory cardiogenic shock, rapid neurological decline, and died within the first hours of life. Postmortem examination revealed widespread subendocardial infarction affecting both ventricles, with structurally normal heart and coronary arteries. Conclusions: This case underscores the critical role of cardiovascular dysfunction in the pathogenesis of brain injury in neonates with HIE. Early interpretation of multimodal monitoring and timely detection and management of myocardial dysfunction may be essential to reduce secondary brain injury and improve outcomes in this high-risk population.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-7"},"PeriodicalIF":0.8,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148680821","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

Genotype and Ultrastructure Correlation in Primary Ciliary Dyskinesia Among Saudi Children: A Case Series. 沙特儿童原发性纤毛运动障碍的基因型和超微结构相关性：一个病例系列。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-07-30 DOI: 10.1080/15513815.2026.2699115

Wajd A Althakfi

引用次数: 0

Hydranencephaly Secondary to Placental Fetal Vascular Malperfusion in a Pregnancy with Extensive Uterine Fibromatosis. 广泛子宫纤维瘤病妊娠期胎盘胎儿血管灌注不良继发无脑畸形。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-07-28 DOI: 10.1080/15513815.2026.2710073

Mariangela Pati, Andrea Musarò, Immacolata Blasi, Giulia Galeati, Lorenzo Aguzzoli, Veronica Barbieri, Roberta Zuntini, Gabriele Trimarchi, Maria Chiara Baroni, Alessandra Terracciano, Antonio Novelli, Maria Paola Bonasoni

{"title":"Hydranencephaly Secondary to Placental Fetal Vascular Malperfusion in a Pregnancy with Extensive Uterine Fibromatosis.","authors":"Mariangela Pati, Andrea Musarò, Immacolata Blasi, Giulia Galeati, Lorenzo Aguzzoli, Veronica Barbieri, Roberta Zuntini, Gabriele Trimarchi, Maria Chiara Baroni, Alessandra Terracciano, Antonio Novelli, Maria Paola Bonasoni","doi":"10.1080/15513815.2026.2710073","DOIUrl":"https://doi.org/10.1080/15513815.2026.2710073","url":null,"abstract":"Introduction: Hydranencephaly is a rare, destructive fetal brain disorder usually attributed to early bilateral carotid occlusion.Case presentation: We report a 34-year-old primigravida with extensive uterine fibromatosis whose fetus showed normal neurosonography at 13 + 1 weeks, rapidly evolving to severe ventriculomegaly and near-complete supratentorial destruction by 18 weeks, with normal karyotype, array-CGH, and noncontributory exome sequencing. Postmortem examination confirmed classic hydranencephaly with preserved deep gray nuclei and a small cerebellum, while both carotid arteries were patent. Placental histology revealed multifocal avascular villi and umbilical cord lesions consistent with fetal vascular malperfusion, indicating chronic, likely intermittent impairment of fetal blood flow.Conclusion: This case supports a primary ischemic-vascular mechanism mediated through placental fetal vascular malperfusion rather than malformative or genetic causes and highlights the importance of systematic placental assessment in destructive fetal brain lesions.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-12"},"PeriodicalIF":0.8,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148609667","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

Fluctuations and Determinants of Amino Acids and Acylcarnitine Species in Newborn Screening by Tandem Mass Spectrometry. 串联质谱法筛选新生儿中氨基酸和酰基肉碱种类的波动和决定因素。

IF 0.8 4区医学

Fetal and Pediatric Pathology Pub Date : 2026-07-08 DOI: 10.1080/15513815.2026.2691894

Zhi-Hui Wan, Bo-Lun Cai, Wei Liu, Yu-Fei Zhao, Li-Fei Gong, Yuan-Yuan Kong, Yan-Hong Zhai, Zheng Cao

引用次数: 0