Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society最新文献

{"title":"Placental Expression of CD15 in Fetal Anemia From Hydrops Fetalis.","authors":"Jutamas Wongphoom, Panachai Nimitpanya, Nawaluk Atiroj, Mana Taweevisit, Paul Scott Thorner","doi":"10.1177/10935266261434713","DOIUrl":"10.1177/10935266261434713","url":null,"abstract":"<p><strong>Introduction: </strong>CD15 expression has been used as a marker of endothelial immaturity in the placenta and is linked to the setting of antenatal hypoxia. If so, expression should be increased in fetal anemia, especially when severe enough to cause hydrops fetalis. This has not been previously reported and the current study tested this hypothesis.</p><p><strong>Materials and methods: </strong>The study group consisted of 10 cases of anemic hydrops in second to early third trimester of gestation and 10 controls matched for gestational age. The majority (70%) of hydrops cases were due to hemoglobin (Hb) Bart. Placentas underwent CD15 immunohistochemical staining and results were quantitatively assessed by counting 100 vessels in each case.</p><p><strong>Results: </strong>For the anemic group, the mean number of CD15+ vessels was 52.0% in the proximal vasculature and 91.3% in the distal vasculature. Values for controls were 32.9% and 42.2%, respectively. The CD15 expression in the distal vasculature was significantly higher in the anemic hydrops group (<i>P</i> < .001), but not significantly higher for the proximal vasculature (<i>P</i> = .14). In the control group, the number of CD15+ vessels decreased with increasing gestational age for both proximal and distal vasculatures. In contrast, in the anemic hydrops group, the number of CD15+vessels did not significantly change with gestational age, for both the proximal and distal vasculatures.</p><p><strong>Conclusion: </strong>Placentas belonging to anemic hydrops cases demonstrate significantly increased expression of CD15 in the distal vasculature. CD15 expression in HF may be driven by hypoxia, reflecting an attempt by the placenta to compensate for this.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"511-516"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147597731","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":"Pediatric SMARCB1/INI1-Deficient Undifferentiated Pancreatic Carcinoma: Presentation of an Additional Case of a Rare Tumor.","authors":"Di Ding, Dongmei Ding, Feng Tian, Jing Zhao, Jiayan Feng, Yangyang Ma","doi":"10.1177/10935266261427532","DOIUrl":"10.1177/10935266261427532","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinical and pathological features of pediatric SMARCB1/INI-1 deficient undifferentiated pancreatic carcinoma.</p><p><strong>Methods: </strong>Two SMARCB1/INI-1 deficient undifferentiated pancreatic carcinomas diagnosed from 2021 to 2024 at the Children's Hospital of Fudan University were collected. The histomorphological features, immunohistochemical results, FISH test results, and clinical treatment courses were summarized, and the potential treatment was discussed in combination with the literature.</p><p><strong>Results: </strong>Both cases were male, presenting with abdominal pain, abdominal distension, back pain, and weight loss, along with elevated serum CA125 levels. CT showed the pancreatic tail masses with heterogeneous enhancement. Microscopically, the tumor cells were arranged in nests and sheets, with focal glandular arrangement and exhibited abundant cytoplasm, vesicular nuclei, and distinct nucleoli with scant eosinophilic inclusions. Immunohistochemistry revealed CK, CK7, and CK19 expression and complete loss of INI-1 (SMARCB1) expression. The Ki-67 proliferation indices were 40%. FISH revealed SMARCB1/INI-1 gene deletion in both cases. After the surgery and chemotherapy, both patients died 42 days and 10 months after operation, respectively.</p><p><strong>Conclusion: </strong>SMARCB1/INI-1 deficient undifferentiated pancreatic carcinoma is a very rare, highly aggressive malignancy in children with dismal prognosis. It should be taken in consideration when encountering a pancreatic mass to avoid misdiagnosis in routine clinical work.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"566-573"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147523714","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":"Regenerative Nodule as a Diagnostic Dilemma in the Neonate With Acute Liver Failure and a Focal Liver Lesion.","authors":"Claire Castaneda, Jessica Gulliver, Katryn Furuya, Shelly Cook, Eumenia Castro, Crystal Bockoven, Sarangarajan Ranganathan","doi":"10.1177/10935266261427176","DOIUrl":"10.1177/10935266261427176","url":null,"abstract":"<p><p>Acute liver failure in the neonate generates a broad differential diagnosis of varying etiology including inborn errors of metabolism, infections, cholestatic disorders, gestational alloimmune liver disease (GALD), alpha-1 antitrypsin deficiency, total parenteral nutrition-related injury, malignancy, and others. We present a case of a neonate born at 39 weeks' gestational age who presented on day 5 of life with coxsackievirus (part of the enterovirus family) encephalitis and COVID-19 infection and was subsequently found to be in acute liver failure (INR 1.7 up to 2.8 [not correctable with parenteral vitamin K], ammonia 87 umol/L up to 142 umol/L, AST 1864 IU/L, ALT 535 IU/L) with increasing alpha-fetoprotein. Evaluation for possible liver transplantation included an abdominal MRI, which showed a 2.4 × 1.7 × 2.1 cm round mass-like lesion in segment 2 of the liver, raising a differential diagnosis which included hepatoblastoma. This lesion and the background liver were biopsied. A nonspecific hepatitic pattern of injury was identified within the lesion and the background liver showed nodular post-necrotic changes with collapse of lobular architecture. While clinical case reports exist of acute hepatitis in neonates with COVID-19 alone and coxsackievirus alone, the role dual infection may play in causing severe liver injury is unique to our case and provides territory for continued investigation.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"561-565"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147489223","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":"Detection of Tumor Suppressor Genes Rare Variants: Findings From Neuroblastoma Using Next-Generation Sequencing.","authors":"Aylin Erol, Deniz Kızmazoğlu, Tekincan Çağrı Aktaş, Özde Elif Gökbayrak, Safiye Aktaş","doi":"10.1177/10935266251413938","DOIUrl":"10.1177/10935266251413938","url":null,"abstract":"<p><strong>Background/objectives: </strong>Neuroblastomas (NB) influenced by genetic alterations, which plays significant role in disease progression. Tumor suppressor genes (TSGs) are crucial in regulating cell growth, suppressing replication, and inducing apoptosis to prevent cancer formation. However, mutations in TSGs can lead to loss of normal activity, contributing to cancer development. This study aimed to identify TSG variants in NB patients and assess their clinical significance.</p><p><strong>Methods: </strong>One hundred two NB patients diagnosed and monitored according to the International Neuroblastoma Risk Group Staging System (INRGSS) protocol were included in this study. DNA was extracted from paraffin-embedded tissue samples, and Next-Generation Sequencing (NGS) was conducted using the Pillar ONCO/Reveal Multi-Cancer v4 panel.</p><p><strong>Results: </strong>The most frequently recurring TSG variant detected was RB1, p.P793S (n = 21; 25%) followed by ATM, p.D1853N (n = 20, 19.6%).Stop-gain variants were identified in TP53 (p.R196*), FBXW7 (p.R367*), and PTEN (p.G129*).</p><p><strong>Conclusions: </strong>Our findings underscore the significance of specific TSG variants in NB, particularly in relation to disease progression and potential prognostic markers. Further research is needed to comprehensively assess the role of TSGs in NB, with an emphasis on germline variants and protein expression in larger patient cohorts.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"493-500"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13558810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147795432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spatial Lineage Divergence at Diagnosis in a Pediatric <i>KMT2A</i>-Rearranged Leukemia Presenting with Concurrent AML and B-LBL.","authors":"Huan Zhang, Qiuling Miao, Yue Wang, Li Li, Meng Yi, Xianping Jiang","doi":"10.1177/10935266261478989","DOIUrl":"https://doi.org/10.1177/10935266261478989","url":null,"abstract":"<p><p>We describe a 1-year-2-month-old boy with <i>KMT2A</i>-rearranged leukemia presenting with concurrent acute myeloid leukemia in bone marrow and B-lymphoblastic leukemia/lymphoma in a right calf mass. Both lesions harbored an identical <i>KMT2A::MLLT10</i> fusion, confirming common clonal origin. This represents the first documented case of spontaneous \"spatial lineage divergence\" at diagnosis, distinct from therapy-induced lineage switch. The finding highlights the potential need for multi-site biopsy and molecular profiling in extramedullary disease.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261478989"},"PeriodicalIF":1.3,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148842487","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":"Mixed Vascular Malperfusion: A Hemodynamic Coupling Framework for Placental Vascular Injury.","authors":"Heather L Keir, Charlotte F Kim","doi":"10.1177/10935266261477802","DOIUrl":"https://doi.org/10.1177/10935266261477802","url":null,"abstract":"<p><p>Maternal vascular malperfusion (MVM) and fetal vascular malperfusion (FVM) are traditionally described as individual patterns of placental injury, each pertaining to pathology of either the uteroplacental or fetoplacental circulation. Although often identified independently, MVM and FVM may coexist in the same placenta, making strictly compartmentalized interpretation potentially incomplete. Although MVM and FVM refer to pathology within separate circulatory systems, there is anatomic and functional integration of maternal and fetal blood flow in the placenta. This structured narrative review integrates morphologic, physiologic, imaging, and biomarker data to evaluate the conceptual hypothesis that sustained maternal malperfusion may plausibly influence fetoplacental vascular dynamics and, in selected settings, contribute to histological features resembling or overlapping with FVM. We explore how altered intervillous oxygenation, villous architecture, and increased placental resistance could promote fetal endothelial activation and thrombosis, while acknowledging that evidence for true \"maternal-to-fetal propagation\" remains limited. Potential modifiers that may influence whether a lesion remains compartmentalized or develops overlapping features are considered; these include placental reserve, adaptive angiogenesis, cord and chorionic plate anatomy, and timing of injury. A practical approach to interpreting mixed MVM/FVM findings based on severity, distribution, chronicity, and physiological context is also outlined. We suggest that, in selected cases, interpretation of mixed placental vascular lesions may be strengthened by considering the placenta as a dual but hemodynamically coupled circulatory system.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261477802"},"PeriodicalIF":1.3,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148805476","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":"Prolonged Formalin Fixation Does Not Result in Falsely Elevated Placental Weight.","authors":"James Sibert, Alyssha Glass, Sarah Gentile, Elisheva D Shanes, Jeffery Goldstein","doi":"10.1177/10935266261479959","DOIUrl":"https://doi.org/10.1177/10935266261479959","url":null,"abstract":"","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261479959"},"PeriodicalIF":1.3,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148805445","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":"Fetal Vascular Malperfusion as a Key Association of Dysmorphic Chorionic Villi in the Third Trimester.","authors":"Esra Karakus, Serhat Ozan, Merve Ozturk Agaoglu, Gülnihal Reyhan Toptaş, Dilek Sahin","doi":"10.1177/10935266261477804","DOIUrl":"https://doi.org/10.1177/10935266261477804","url":null,"abstract":"<p><strong>Objective: </strong>Dysmorphic chorionic villi (DCV) are histopathological findings typically associated with chromosomal abnormalities in early pregnancy loss. This study aimed to evaluate the clinical and pathological significance of DCV across all trimesters, particularly investigating their association with fetal vascular malperfusion (FVM) and adverse pregnancy outcomes in late gestation.</p><p><strong>Methods: </strong>We retrospectively analyzed 100 placental cases with DCV diagnosed between June 2024 and July 2025. Cases were classified by trimester and assessed for maternal characteristics, fetal findings, and placental pathologies using standardized histomorphological criteria.</p><p><strong>Results: </strong>DCV were identified across all trimesters, with highest prevalence in the second trimester (57%). FVM was significantly more common in third-trimester placentas (72.4%) compared to first (7.1%) and second (17.5%) trimesters (<i>P</i> < .001). Adverse fetal outcomes included medical termination (30%) and intrauterine fetal demise (25%), both confined to early trimesters. Chromosomal abnormalities were identified in 19% of cases, with trisomy 21 being most frequent (13%).</p><p><strong>Conclusion: </strong>DCV are not exclusive to early pregnancy loss but persist as clinically significant findings throughout gestation. The strong association between third-trimester DCV and FVM suggests these lesions may serve as prognostic histological markers for compromised fetoplacental perfusion. These findings support the need for standardized DCV criteria in placental classification systems and highlight the importance of genetic counseling when DCV are identified.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261477804"},"PeriodicalIF":1.3,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148805490","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":"Biallelic Frameshift Variant in LAMB1 Associated with Occipital Meningoencephalocele and Pansutural Craniosynostosis: A Case Report and Review of the Literature.","authors":"Sihem Darouich, Samia Darouich, Ahmed Khemiri, Houda Bellamine","doi":"10.1177/10935266261477138","DOIUrl":"10.1177/10935266261477138","url":null,"abstract":"<p><p>The LAMB1 gene encodes the laminin β1 chain, an essential component of the pial basement membrane required for neural morphogenesis. While biallelic <i>LAMB1</i> mutations typically result in cobblestone lissencephaly and brainstem abnormalities, we report an extreme, lethal syndromic phenotype that significantly expands the gene's known clinical spectrum. Through genomic sequencing of a 36-week stillborn male fetus from consanguineous parents, we identified a novel homozygous frameshift variant in <i>LAMB1</i> (NM_002291.3:c.3330dup, p.Gly1111Argfs*23). This fetus exhibited severe growth restriction and a massive occipital meningoencephalocele, alongside pansutural craniosynostosis and an underdeveloped cranial base. Multi-system anomalies included gallbladder agenesis and abnormal lung lobation, alongside secondary endocrine failure and placental vascular defects. This report includes a systematic review of 23 confirmed cases, proposing a 4-category phenotypic classification that positions this case as a lethal extreme. Mechanistically, we propose that this loss-of-function variant impairs integrin-β1-mediated mechanotransduction during human neural tube closure, thereby disrupting the extracellular matrix-planar cell polarity axis. Under this mechanism, the primary encephalocele drives downstream pansutural craniosynostosis by reducing intracranial pressure, and endocrine failure by disrupting the hypothalamo-hypophyso-adrenal axis. Ultimately, these findings highlight LAMB1 as an essential, non-redundant scaffold required for both neural architecture and systemic visceral morphogenesis.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261477138"},"PeriodicalIF":1.3,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148727510","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":"Machine Learning-Based Classification of Neuroblastoma Risk Groups and MYCN Status.","authors":"Sumeyye Ekmekci, Emre Ipek, Mehmet Serkan Apaydın, Erdener Ozer","doi":"10.1177/10935266261474215","DOIUrl":"https://doi.org/10.1177/10935266261474215","url":null,"abstract":"<p><strong>Background: </strong>Artificial intelligence (AI)-based methods have demonstrated considerable promise in identifying histological features in whole slide images (WSIs) and supporting risk classification in tumors. For pediatric cancers such as neuroblastoma, integrating histological findings with molecular data may enhance risk stratification and support clinical management. This study aims to evaluate the performance of a deep learning AI model on WSIs to classify neuroblastoma patients according to risk groups and determine the MYCN amplification status.</p><p><strong>Methods: </strong>Hematoxylin and eosin-stained slides from 10 high-risk MYCN amplified, 10 high risk MYCN non-amplified, 5 intermediate-risk MYCN non-amplified, and 5 low-risk MYCN non-amplified neuroblastoma cases were digitally scanned. WSIs were processed using a deep learning-based segmentation and classification algorithms. Two patch-level datasets were constructed: 1 to predict MYCN amplification status (positive versus negative), and another to classify patients into 4 distinct risk groups (low-risk MYCN-negative, intermediate-risk MYCN-negative, high-risk MYCN-negative, and high-risk MYCN-positive).</p><p><strong>Results: </strong>Our deep learning model achieved 98% accuracy of classifying neuroblastoma patients' risk groups across validation trials on slide-level classification tasks, reflecting robust performance. The accuracy of distinguishing MYCN amplified tumors from MYCN non-amplified tumors was 99%, and even within high-risk neuroblastoma cases, it was 96%.</p><p><strong>Conclusion: </strong>AI models can facilitate accurate risk classification of neuroblastoma patients and may also predict MYCN amplification status. They represent a promising complementary tool for pathologists working on risk stratification, especially when histological examination is limited or molecular testing for MYCN amplification is unavailable.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261474215"},"PeriodicalIF":1.3,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148715231","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}