Pediatric and Developmental Pathology最新文献_第4页

Liver Transplantation in 3 Cholestatic Infants With History of COVID Exposure. 3例有COVID暴露史的胆汁淤积婴儿的肝移植

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-28 DOI: 10.1177/10935266251325335

Shruti Sakhuja, Kalyani R Patel, Matthew Goss, Flor M Munoz, Garrett Wortham, Megan Crawford, John A Goss, Nhu Thao Galvan

{"title":"Liver Transplantation in 3 Cholestatic Infants With History of COVID Exposure.","authors":"Shruti Sakhuja, Kalyani R Patel, Matthew Goss, Flor M Munoz, Garrett Wortham, Megan Crawford, John A Goss, Nhu Thao Galvan","doi":"10.1177/10935266251325335","DOIUrl":"10.1177/10935266251325335","url":null,"abstract":"The COVID-19 pandemic presents several challenges during pregnancy including thromboembolic complications, direct placental infection, transplacental transmission, and systemic hyperinflammatory state. The liver is the second most commonly affected organ in SARS-CoV-2 infection after the lungs. Mechanisms of liver injury in COVID-19 patients can include: direct viral cytopathic effect, worsening of underlying liver disease, cytokine storm, hypoxic ischemic injury, and cholangiopathy leading to persistent marked cholestasis. Here we describe 3 infants at Texas Children's Hospital with perinatal SARS-CoV-2 exposure with persistent cholestasis and histologic evidence of extrahepatic biliary obstruction suggesting underlying biliary atresia (BA) with some atypical features possibly exacerbated by SARS-CoV-2 infection. All 3 patients described in this case series developed liver failure in the setting of low GGT cholestasis, and all 3 required liver transplantation within the first year of life. Though post-COVID cholangiopathy is described in adults in the literature, none of the infants in our series had moderate or severe COVID infection but still progressed to advanced liver disease. Instead it is very likely that the patients in our series had underlying BA with some atypical features, with the commonality of having been exposed perinatally to SARS-CoV-2 Though further studies are needed to determine causality, our case series raises the question of if the timing of exposure/infection plays a role in prognosis.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251325335"},"PeriodicalIF":1.3,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12241674/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732979","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

Oral Mucosal Calcified Nodule: Report of a Case and Review of the Literature. 口腔黏膜钙化结节1例报告及文献复习。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-28 DOI: 10.1177/10935266251325064

Yasmin Ludianski, Denise A Trochesset, Arthi Kumar

引用次数: 0

Classic Hodgkin Lymphoma With Primary Presentation as Lytic Bone Lesions and Pancytopenia: Report of a Pediatric Case and Review of Literature. 原发表现为溶解性骨病变和全血细胞减少的典型霍奇金淋巴瘤：一例儿科病例的报告和文献综述。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-15 DOI: 10.1177/10935266251326216

Jacob Christofi, Roopa Kodimyala, Summit Shah, Samir B Kahwash

引用次数: 0

Clinical and Pathological Features of a Schwannoma Harboring a SH3PXD2A::HTRA1 Gene Fusion in a Pre-pubescent Patient. 青春期前患者SH3PXD2A::HTRA1基因融合的神经鞘瘤的临床和病理特征

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-01 Epub Date: 2024-12-24 DOI: 10.1177/10935266241308946

Aida Glembocki, Robert Siddaway, Anthony Arnoldo, Molly Jakeman, Anthea Lafreniere

{"title":"Clinical and Pathological Features of a Schwannoma Harboring a SH3PXD2A::HTRA1 Gene Fusion in a Pre-pubescent Patient.","authors":"Aida Glembocki, Robert Siddaway, Anthony Arnoldo, Molly Jakeman, Anthea Lafreniere","doi":"10.1177/10935266241308946","DOIUrl":"10.1177/10935266241308946","url":null,"abstract":"An 11-year-old girl presented with a soft tissue lesion on the dorsal aspect of the left middle finger. Ultrasound imaging demonstrated a 2.8 cm × 0.8 cm × 0.8 cm lesion overlying the dorsal aspect of the base of the digit near the metacarpophalangeal joint. The patient's past medical history is remarkable for neuroblastoma, diagnosed at 9 months of age, with no MYCN amplification or 1p loss. We report a pediatric schwannoma harbouring a SH3PXD2A::HTRA1 gene fusion with a distinctive serpentine histology. The lesion consisted of well-circumscribed nodules surrounded by thin EMA-positive perineural capsules. Each nodule was composed of lesional cells arranged in short fascicles with occasional clefting and a distinct \"serpentine\" palisading pattern. The lesion demonstrated Antoni A regions with Verocay body formation. No significant Antoni B areas were seen. The lesional Schwannian cells were bland with elongated and tapered nuclei, showing strong and diffuse positivity for S100. This pre-pubescent girl (Tanner Stage 2) is currently the youngest reported case of fusion-positive schwannoma. In addition, she has a significant prior history of a malignant neoplasm, and the lesion arose in an appendicular location.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"137-141"},"PeriodicalIF":1.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11894906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883653","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

Anomalous Origin of the Right Coronary Artery From Pulmonary Trunk in a Hypoplastic Left Heart Syndrome With 15q11.2 BP1-BP2 Microdeletion: A Novel Association. 左心发育不全综合征伴15q11.2 BP1-BP2微缺失的右冠状动脉异常起源：一种新的关联

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-01 Epub Date: 2024-12-17 DOI: 10.1177/10935266241304856

Ibrahim Melik, Diane G Brackett, Stephen P Sanders, Chrystalle Katte Carreon

引用次数: 0

A Unique Case of Cystic Partially Differentiated Nephroblastoma Associated With Botryoid Intralobar Nephrogenic Rests. 囊性部分分化肾母细胞瘤合并葡萄样叶内肾源性病变一例。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-01 Epub Date: 2024-12-08 DOI: 10.1177/10935266241304691

Magdalena Puchertova, Boris Rychly, Alexandra Kolenova, Gordan M Vujanić

引用次数: 0

Whole Slide Imaging, Artificial Intelligence, and Machine Learning in Pediatric and Perinatal Pathology: Current Status and Future Directions. 儿科和围产期病理学中的全切片成像、人工智能和机器学习：现状与未来方向》。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-01 Epub Date: 2024-11-18 DOI: 10.1177/10935266241299073

J Ciaran Hutchinson, Jennifer Picarsic, Clare McGenity, Darren Treanor, Bethany Williams, Neil J Sebire

{"title":"Whole Slide Imaging, Artificial Intelligence, and Machine Learning in Pediatric and Perinatal Pathology: Current Status and Future Directions.","authors":"J Ciaran Hutchinson, Jennifer Picarsic, Clare McGenity, Darren Treanor, Bethany Williams, Neil J Sebire","doi":"10.1177/10935266241299073","DOIUrl":"10.1177/10935266241299073","url":null,"abstract":"The integration of artificial intelligence (AI) into healthcare is becoming increasingly mainstream. Leveraging digital technologies, such as AI and deep learning, impacts researchers, clinicians, and industry due to promising performance and clinical potential. Digital pathology is now a proven technology, enabling generation of high-resolution digital images from glass slides (whole slide images; WSI). WSIs facilitates AI-based image analysis to aid pathologists in diagnostic tasks, improve workflow efficiency, and address workforce shortages. Example applications include tumor segmentation, disease classification, detection, quantitation and grading, rare object identification, and outcome prediction. While advancements have occurred, integration of WSI-AI into clinical laboratories faces challenges, including concerns regarding evidence quality, regulatory adaptations, clinical evaluation, and safety considerations. In pediatric and developmental histopathology, adoption of AI could improve diagnostic efficiency, automate routine tasks, and address specific diagnostic challenges unique to the specialty, such as standardizing placental pathology and developmental autopsy findings, as well as mitigating staffing shortages in the subspeciality. Additionally, AI-based tools have potential to mitigate medicolegal implications by enhancing reproducibility and objectivity in diagnostic evaluations. An overview of recent developments and challenges in applying AI to pediatric and developmental pathology, focusing on machine learning methods applied to WSIs of pediatric pathology specimens is presented.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"91-98"},"PeriodicalIF":1.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142647795","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

A Case of MIRAGE Syndrome with SAMD9 Mutation and Refractory Infantile Diarrhea: Endoscopic Biopsy Evaluation via Light and Electron Microscopy. 幻影综合征合并SAMD9突变和难治性婴儿腹泻1例：光镜和电镜内镜活检评估。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-01 Epub Date: 2024-12-10 DOI: 10.1177/10935266241304692

Kevin Emil Bove, Oscar Lopez-Nunez, Jiri Bedrnicek, Andrew Huang, David Freestone, Nicole Birge, Sandeep Kumar

{"title":"A Case of MIRAGE Syndrome with SAMD9 Mutation and Refractory Infantile Diarrhea: Endoscopic Biopsy Evaluation via Light and Electron Microscopy.","authors":"Kevin Emil Bove, Oscar Lopez-Nunez, Jiri Bedrnicek, Andrew Huang, David Freestone, Nicole Birge, Sandeep Kumar","doi":"10.1177/10935266241304692","DOIUrl":"10.1177/10935266241304692","url":null,"abstract":"An infant with intrauterine growth restriction, suspected of having MIRAGE syndrome based on prenatal ultrasound, presented with genital ambiguity, adrenal insufficiency, intractable diarrhea from birth, and a pathogenic SAMD9 mutation (c.1376G>A, p.R459Q). Endoscopic biopsies of the duodenum revealed complex light and electron microscopic abnormalities. Hypoplastic villi without signs of enteritis suggests a disorder of mucosal growth with reduced absorptive surface area contributes to intractable diarrhea. Ultrastructural study showed prominent dilated endoplasmic reticulum, abnormalities of Golgi morphology, specialized granule, and mucin processing. We hypothesize that the SAMD9 mutation alters mucosal growth, and the processing of mucin, Paneth and neurosecretory granules, with premature degradation of specific granules in enterocyte lysosomes. These distinctive morphological findings support the idea that multisystem manifestations of MIRAGE syndrome are due to a primary disorder of microsomal trafficking.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"111-116"},"PeriodicalIF":1.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142803513","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

A Rare Case of an Infant With TFE3 Mutation Presenting With Direct Hyperbilirubinemia and Hepatomegaly. 一例罕见的 TFE3 基因突变婴儿，表现为直接高胆红素血症和肝肿大。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-01 Epub Date: 2024-11-25 DOI: 10.1177/10935266241298805

Qiong Zhang, Aaron Axelbaum, Katryn Furuya, Jessica Gulliver

{"title":"A Rare Case of an Infant With TFE3 Mutation Presenting With Direct Hyperbilirubinemia and Hepatomegaly.","authors":"Qiong Zhang, Aaron Axelbaum, Katryn Furuya, Jessica Gulliver","doi":"10.1177/10935266241298805","DOIUrl":"10.1177/10935266241298805","url":null,"abstract":"Translocations within the TFE gene resulting in oncogenic fusion proteins have been associated with multiple neoplasms. De novo mutations in the X-linked gene TFE3 in exons 3 and 4 are considered to contribute to lysosomal storage disorder-like features. However, the histologic findings within the livers of patients with TFE3 mutations are not well characterized. The authors report a case of a 12 day old term male who was admitted to the pediatric intensive care unit and went on to develop worsening direct hyperbilirubinemia and hepatomegaly. Due to the constellation of clinical findings, whole genome sequencing was performed and a rare de novo hemizygous mutation was identified in the TFE3 gene (c.560C > T; p.Thr187Met) which was thought to be likely pathogenic. The patient subsequently had 2 liver biopsies performed, both with similar histologic findings. The liver was found to have a giant cell hepatitis pattern of injury with severe cholestasis and extensive pseudorosette formation. Additional studies are needed to understand the histologic changes which could be associated with mutations in the TFE3 gene. The impact of a TFE3 mutation on the liver represents an area where further study is necessary to provide prognostic and therapeutic guidance for future patients.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"117-120"},"PeriodicalIF":1.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711845","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

Are PDFGRA Dinucleotide Alterations Definitional for Myxoid Glioneuronal Tumor? Report of PDFRA p. K385L Mutation in a Neonatal High-Grade Glioma. PDFGRA二核苷酸改变是黏液样胶质细胞瘤的定义吗？PDFRA p. K385L突变在新生儿高级别胶质瘤中的报道。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-03-01 Epub Date: 2024-12-10 DOI: 10.1177/10935266241304711

Ahmed Gilani, Nicholas Willard, Jean M Mulcahy Levy, John Skaugen, Angus Toland

{"title":"Are PDFGRA Dinucleotide Alterations Definitional for Myxoid Glioneuronal Tumor? Report of PDFRA p. K385L Mutation in a Neonatal High-Grade Glioma.","authors":"Ahmed Gilani, Nicholas Willard, Jean M Mulcahy Levy, John Skaugen, Angus Toland","doi":"10.1177/10935266241304711","DOIUrl":"10.1177/10935266241304711","url":null,"abstract":"Tumors are increasingly defined by molecular alterations but approach to cases with discordant histologic and molecular features is unclear. Myxoid glioneuronal tumor (MGNT), histologically similar to dysembryoplastic neuroepithelial tumor (DNET), is characterized by dinucleotide mutations in PDGFRA gene (K385L or K385I). Here, we report PDGFRA K385L mutation in a neonatal high-grade glioma. A male neonate presented at birth with hydrocephalus. Subsequent imaging showed a large, lobulated cerebral mass. He died at day 37 of life from intracranial hemorrhage. A brain-only autopsy was performed, which showed a diffusely infiltrative hemorrhagic glial tumor with variable histology. Regions with distinct mucin pools and monomorphic oligodendroglioma-like cells were present. Elsewhere, there was little mucin and markedly atypical nuclei. Increased mitotic rate and foci of microvascular proliferation were widely present. Targeted panel sequencing found PDGFRA K385L mutation. DNA methylation studies showed a match with diffuse pediatric-type high-grade glioma, H3-wildtype, and IDH-wildtype, RTK1 subtype with a high calibrated score. In summary, we report the occurrence of PDGFRA hotspot mutation in a neonatal high-grade glioma without distinct features of MGNT, demonstrating that this genetic alteration is not specific to MGNT. We recommend caution in classifying a tumor as MGNT solely by the presence of PDGFRA alteration.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"126-132"},"PeriodicalIF":1.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142803514","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