{"title":"Utility of Integrating Genome-Wide Postmortem Testing into Clinical Autopsy Practice in Pediatrics: A Retrospective, Single-Center Study.","authors":"Noriko Watanabe, Kayoko Ichimura, Daiju Oba, Masaki Shimizu, Hirofumi Ohashi, Atsuko Nakazawa","doi":"10.1080/15513815.2026.2667801","DOIUrl":"10.1080/15513815.2026.2667801","url":null,"abstract":"<p><p><b>Background:</b> Pediatric clinical autopsy plays an important role; however, interpretation of autopsy findings is often challenging. Genome-wide postmortem testing has emerged as a promising approach, yet its utility in clinical autopsy remains uncertain. <b>Methods:</b> This retrospective, single-center study included systematic analysis of all pediatric clinical autopsies performed between 2020 and 2025, following institutional introduction of postmortem genomic testing using whole-exome sequencing. <b>Results:</b> Among 61 autopsies, postmortem genomic testing was performed in 27 cases, revealing primary findings in 8 (30%), including 6 (22%) identified by whole-exome sequencing. Among cases with primary findings, genomic findings confirmed the diagnosis in 5 cases and facilitated interpretation of autopsy findings in the remaining 3 cases. <b>Conclusion:</b> This study provides the first autopsy-based evaluation of postmortem genomic testing, demonstrating improved diagnostic precision and facilitating family counseling. These findings highlight the value of integrating postmortem genomic testing into pediatric autopsy practice.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"199-210"},"PeriodicalIF":0.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147935151","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}
Jie Zhang, Weimao Kong, Longnv Bao, Guilin Yang, Kongzheng Yang, Tingling Zhang, Xingzhu Pan, Jigang Wang
{"title":"Clinicopathological and Molecular Characterization of Pediatric Breast Fibroepithelial Lesions: A Cohort Study.","authors":"Jie Zhang, Weimao Kong, Longnv Bao, Guilin Yang, Kongzheng Yang, Tingling Zhang, Xingzhu Pan, Jigang Wang","doi":"10.1080/15513815.2026.2640505","DOIUrl":"10.1080/15513815.2026.2640505","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study is to characterize the clinicopathological and molecular features of pediatric breast fibroepithelial lesions (FELs) and evaluate the diagnostic and clinical relevance of distinguishing fibroadenomas (FAs) from phyllodes tumors (PTs).</p><p><strong>Methods: </strong>We retrospectively analyzed 138 pediatric breast FELs. Pathologic evaluation, immunohistochemical staining, and Sanger sequencing of <i>MED12</i> exon 2 and the <i>TERT</i> promoter were performed.</p><p><strong>Results: </strong>Of the 138 cases, 133 were diagnosed as FAs (96.4%) and five as benign PTs (3.6%). CD34, Ki-67, and p16 expression were correlated with mitotic activity. CD34 also associated with atypia, and Ki-67 with stromal overgrowth. Larger sized tumors (≥4 cm) had mutant <i>MED12</i> (30/45 cases). No <i>TERT</i> promoter mutations were detected. During follow-up (range 17-153 months), no true recurrences occurred; though, 13 patients developed new lesions in other quadrants or contralateral breast.</p><p><strong>Conclusions: </strong>Pediatric FELs likely represent a diagnostic continuum. In this cohort, the distinction between FA and benign PT did not impact clinical outcome, suggesting limited prognostic significance.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"108-121"},"PeriodicalIF":0.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147437167","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}
{"title":"Placental Oxidative Stress and eNOS Alterations in Intrahepatic Cholestasis of Pregnancy Following ICSI.","authors":"Sibel Bulgurcuoglu Kuran, Meryem Hocaoglu, Ayse Altun, Selin Demirer, Ibrahim Sogut, Sezen Gizem Aydogan, Ilayda Loçlar Karaalp, Elvan Ozturk, Esra Kaynak, Abdulkadir Turgut, Evrim Komurcu-Bayrak, Canan Hurdag","doi":"10.1080/15513815.2026.2640497","DOIUrl":"10.1080/15513815.2026.2640497","url":null,"abstract":"<p><p><b>Background:</b> Pregnancies following in vitro fertilization (IVF) are associated with higher rates of intrahepatic cholestasis of pregnancy (ICP) compared to spontaneous conceptions. This study aimed to investigate oxidative stress biomarkers, endothelial nitric oxide synthase (eNOS) expression, and placental histopathology in ICP women undergoing intracytoplasmic sperm injection (ICSI). <b>Methods:</b> Placental samples from four groups-healthy spontaneous conception (non-ICP-SC, n = 7), ICP spontaneous conception (ICP-SC, n = 7), healthy ICSI (non-ICP-ICSI, n = 7), and ICP-ICSI (n = 7)-were analyzed. eNOS immunostaining, total antioxidant status (TAS), total oxidant status (TOS), oxidative stress index (OSI), and syncytial knots were evaluated. <b>Results:</b> The ICP ICSI group had the highest TAS and lowest eNOS levels (p < 0.05). Non-ICP-ICSI showed higher TOS and syncytial knots compared to non-ICP-SC (p = 0.026, p = 0.01). eNOS expression was lower in ICP-ICSI versus ICP-SC (p = 0.021). <b>Conclusion:</b> These findings suggest that ICP-ICSI placentas experience increased oxidative stress and decreased eNOS expression. ICSI may affect placental oxidative balance regardless of ICP status.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"90-107"},"PeriodicalIF":0.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147470108","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}
{"title":"Parvovirus B-19 Induced Anemia in a Heart Transplant Recipient: Report of a Pediatric Case and Brief Review of Literature.","authors":"Serena-Jenna Rabi, Jahnavi Aluri, Samir Kahwash","doi":"10.1080/15513815.2026.2640496","DOIUrl":"10.1080/15513815.2026.2640496","url":null,"abstract":"<p><p><b>Background:</b> Parvovirus B19 (B19V) is normally a self-limiting infection in immunocompetent individuals but can cause severe, persistent anemia in immunocompromised patients, particularly in solid organ transplant (SOT) recipients. <b>Patient:</b> Retrospective review of the patient's clinical, laboratory, and pathology findings to describe the disease progression and management. <b>Results:</b> The patient, a 3 y old girl, developed progressive anemia 15 months post-heart transplant. Bone marrow (BM) biopsy demonstrated B19V nuclear inclusions, and PCR confirmed viremia, consistent with erythroid aplastic crisis. Treatment with intravenous immunoglobulin (IVIG) led to hematologic improvement, but anemia and viral reactivation recurred after discontinuation. Her course was further complicated by Epstein-Barr virus (EBV)-associated post-transplant lymphoproliferative disorder (PTLD) and multi-organ dysfunction, resulting in death 34 months post-transplant. <b>Conclusions:</b> This case represents one of the youngest documented pediatric heart transplant recipients with B19V induced anemia, complicated by viral reactivation despite IVIG, leading to a fatal outcome. Continued viral surveillance and individualized management are needed to improve outcomes in this vulnerable population.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"151-157"},"PeriodicalIF":0.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147391370","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}
{"title":"Detection of β-Thalassemia Mutations in Term Neonates with HbA ≤15% Using Capillary Electrophoresis and Molecular Analysis.","authors":"Shreshta S Prabhan, Meenakshi Bothra, Sakshi Agarwal, Seema Kapoor, Somesh Kumar","doi":"10.1080/15513815.2025.2611095","DOIUrl":"10.1080/15513815.2025.2611095","url":null,"abstract":"<p><strong>Background: </strong>β-thalassemia is a common monogenic disorder in India, yet early neonatal detection remains challenging due to high fetal hemoglobin levels.</p><p><strong>Objective: </strong>To determine the prevalence of β-globin gene mutations in term neonates with HbA ≤15% and to identify an optimal HbA cutoff for screening.</p><p><strong>Methods: </strong>In this cross-sectional study conducted from January 2020 to October 2021 at two tertiary hospitals in Delhi, 2,600 newborns were screened using capillary electrophoresis. Neonates with HbA ≤15% underwent parental screening by HPLC, and genetic confirmation was performed using ARMS-PCR and sequencing.</p><p><strong>Results: </strong>Among 91 neonates with parental consent, 14 (15.4%) harbored β-globin gene mutations, predominantly IVS 1-5(G→C). ROC analysis revealed an optimal HbA cutoff of ≤12.4%, with 93% sensitivity and 56% specificity.</p><p><strong>Conclusion: </strong>HbA ≤12.4% at birth is a useful threshold for early identification of β-thalassemia, enabling timely counseling and prevention strategies through neonatal screening.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"67-77"},"PeriodicalIF":0.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146097207","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}
{"title":"Dominant Role of Placental Vascular Pathology in Preterm Birth Among Placenta Previa Cases: A Clinicopathological Analysis.","authors":"Esra Karakus, Serhat Ozan, Merve Ozturk Agaoglu, Esra Karatas, Dilek Sahin","doi":"10.1080/15513815.2026.2645643","DOIUrl":"10.1080/15513815.2026.2645643","url":null,"abstract":"<p><strong>Background: </strong>Placenta previa (PP) is a major cause of preterm birth, yet the role of placental vascular pathology remains unclear. This study investigated maternal, fetal, and placental histopathological factors associated with preterm delivery in PP cases, emphasizing vascular malperfusion.</p><p><strong>Methods: </strong>A retrospective case-control study included 88 singleton PP pregnancies without placental invasion: 56 preterm (<37 weeks) and 32 term (≥37 weeks) deliveries. Placental pathology was evaluated per the Amsterdam criteria. Multivariable logistic regression identified predictors of preterm birth.</p><p><strong>Results: </strong>Maternal vascular malperfusion (MVM) was significantly more common in preterm cases (67.9% vs. 18.8%, <i>p</i> < 0.001) and was a strong independent predictor (OR = 11.08; <i>p</i> < 0.001). Fetal vascular malperfusion (FVM) was also more frequent (80.4% vs. 56.3%, <i>p</i> = 0.030), but not independently significant.</p><p><strong>Conclusion: </strong>Vascular lesions, especially MVM, are key drivers of preterm birth in PP. These findings highlight the importance of placental evaluation in clinical management.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"122-131"},"PeriodicalIF":0.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147500176","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}
Mustafa Can Yazıcı, Hızır Aslıyüksek, Caner Beşkoç, Beyza Keskin Öztürk, Tülin Tiraje Celkan
{"title":"Malignant Mesothelioma of the Tunica Vaginalis in a Pediatric Patient: A Case Report of a Rare Tumor with Medicolegal Implications.","authors":"Mustafa Can Yazıcı, Hızır Aslıyüksek, Caner Beşkoç, Beyza Keskin Öztürk, Tülin Tiraje Celkan","doi":"10.1080/15513815.2026.2628771","DOIUrl":"10.1080/15513815.2026.2628771","url":null,"abstract":"<p><strong>Introduction: </strong>Although exceedingly rare in children, malignant mesothelioma of the tunica vaginalis may be misinterpreted as more common pediatric testicular neoplasms due to overlapping histological features reported in isolated cases. Diagnostic errors can cause delayed treatment and legal consequences.</p><p><strong>Case presentation: </strong>A 15-year-old male presented in Turkiye with abdominal distension, scrotal swelling, and suspected testicular malignancy. Pathology suggested a Leydig cell tumor, and chemotherapy was initiated. His condition deteriorated, leading to reevaluation abroad. Pathological reassessment from three international centers, including a German laboratory, confirmed malignant mesothelioma of the tunica vaginalis. The patient improved with appropriate treatment. Due to diagnostic discrepancies, a malpractice case was initiated in Turkiye.</p><p><strong>Conclusion: </strong>This case highlights the importance of accurate histopathological diagnosis in pediatric testicular tumors. Given the rarity of tunica vaginalis mesothelioma, multidisciplinary collaboration and second-opinion pathology reviews are essential for proper management and medicolegal accountability.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"143-150"},"PeriodicalIF":0.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147357452","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}
Maria Paola Bonasoni, Giuseppina Comitini, Andrea Musarò, Flavio Vanacore, Immacolata Blasi, Giovanna Botticelli, Veronica Barbieri, Maria Marinelli, Francesca Peluso, Livia Garavelli, Khush Shah, Lorenzo Aguzzoli, Mariangela Pati
{"title":"Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy Findings.","authors":"Maria Paola Bonasoni, Giuseppina Comitini, Andrea Musarò, Flavio Vanacore, Immacolata Blasi, Giovanna Botticelli, Veronica Barbieri, Maria Marinelli, Francesca Peluso, Livia Garavelli, Khush Shah, Lorenzo Aguzzoli, Mariangela Pati","doi":"10.1080/15513815.2026.2628770","DOIUrl":"10.1080/15513815.2026.2628770","url":null,"abstract":"<p><p><b>Introduction:</b> Bladder exstrophy (BE) is a congenital anomaly within the exstrophy-epispadias complex (EEC), characterized by a defect in the closure of the lower abdominal wall and bladder. <b>Case report:</b> A female fetus at 20 weeks + 2 days showed at ultrasound (US) a homogeneous echogenic mass with a lobulated surface, protruding from the anterior lower abdominal wall. The bladder was not visualized. Doppler US displayed umbilical arteries laterally to the mass. The kidneys appeared normal. Amniotic fluid was regular. Legal termination of pregnancy occurred at 21 weeks + 4 days. Autopsy grossly and histologically confirmed BE. Microscopically, BE was layered by an urothelial-like epithelial layer and underneath, the muscularis propria was disarrayed with scarce nerve fibers, evidenced by immunohistochemistry for S-100. <b>Conclusion:</b> In case of prenatal diagnosis of BE, multidisciplinary counseling is mandatory for appropriate clinical management.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"132-142"},"PeriodicalIF":0.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147357495","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}
Daria Kozlova, Ana Foigelman Tobar, Rabab Naamneh, Dally Nasib, Osnat Konen, Sharbel Khoury, David Ben-Meir
{"title":"Perinatal Testicular Torsion - Seeking the Timeline and Finding Unexpected Pathologic Evidence.","authors":"Daria Kozlova, Ana Foigelman Tobar, Rabab Naamneh, Dally Nasib, Osnat Konen, Sharbel Khoury, David Ben-Meir","doi":"10.1080/15513815.2026.2614657","DOIUrl":"10.1080/15513815.2026.2614657","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the time of onset of perinatal torsion based on the clinical, sonographic, and histologic characteristics and shed light on the pathogenesis.</p><p><strong>Methods: </strong>The data of 21 neonates (22 testes) who underwent orchiectomy for perinatal testicular torsion between 2008 and 2022 were retrospectively collected from two medical centers.</p><p><strong>Results: </strong>Median age at surgery was 13 h, and median interval between ultrasound and surgery was 2.9 h. All patients presented with rigid, painless testes, 15 on the left side and 5 on the right; one patient had bilateral torsion. Torsion was extravaginal in 17 cases and intravaginal in one; in 3 cases, no torsion was found intraoperatively. On ultrasound study, available for 16 torsed testes (15 patients), there was no blood flow in 13 and scant flow in 1; in 2, perfusion was found at the rim. Histologic examination after surgical removal revealed grade 3 tissue damage in 20 testes. In all of them, viable tissue was present along with the necrosis and calcifications.</p><p><strong>Conclusions: </strong>All testes had been damaged at least one week before surgery. There was no association of the sonographic with the histologic findings. The unexpected finding of viable tissue coexistent with necrosis and dystrophic calcifications supports an etiology of ischemia-reperfusion injury resulting from intermittent torsion.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":"45 2","pages":"78-89"},"PeriodicalIF":0.8,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147678413","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}