Pediatric and Developmental Pathology最新文献

Clinical and Pathological Features of a Schwannoma Harboring a SH3PXD2A::HTRA1 Gene Fusion in a Pre-pubescent Patient.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub 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":"https://doi.org/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":"10935266241308946"},"PeriodicalIF":1.3,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-12-23 DOI: 10.1177/10935266241286723

Celso Tomás Corcuera-Delgado, Alfonso Gilberto Ramírez-Ristori, Estela Pérez-Muñoz, María Emilia Mendizábal-Rodríguez, Camilo E Villarroel

{"title":"Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease.","authors":"Celso Tomás Corcuera-Delgado, Alfonso Gilberto Ramírez-Ristori, Estela Pérez-Muñoz, María Emilia Mendizábal-Rodríguez, Camilo E Villarroel","doi":"10.1177/10935266241286723","DOIUrl":"https://doi.org/10.1177/10935266241286723","url":null,"abstract":"Neuronal ceroid lipofuscinosis type 2 (CLN2) results from biallelic pathogenic variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase 1. We report an autopsy case of CLN2 characterized at molecular level. The patient exhibited a spectrum of neurologic symptoms including epilepsy, behavioral alterations, cognitive regression, motor impairment, and visual loss. In fundus exam, a cherry-red spot was observed. She died at 7 years old, autopsy demonstrated severe atrophy of the brain and cerebellum with neuronal loss and gliosis. Neurons were distended by autofluorescent ceroid lipofuscin of 2 types: fine granular deposits and coarse round bodies. In addition, electron microscopy study revealed characteristic curvilinear profiles. After autopsy, a germline molecular test was performed that found the c.1226 G>T variant in a homozygous state. This variant has been referenced in a single undetailed report and is classified as of uncertain significance. Our findings support that cherry-red spot can be present in CLN2 and confirm the pathogenicity of the c.1226 G>T variant. Current management of CLN2 includes enzyme replacement that requires early diagnosis, which can be facilitated by clinical delineation of the disease and appropriate classification and public reporting of TPP1 variants.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266241286723"},"PeriodicalIF":1.3,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883654","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

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.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-12-17 DOI: 10.1177/10935266241304856

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

引用次数: 0

Stillbirth and Congenital Syphilis: Autopsy and Placental Findings of 11 Cases and Review of the Literature.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-12-13 DOI: 10.1177/10935266241304844

Raquel Ilgenfritz, Ana Catarina Lai, Filipa Galante Pereira, Ana Costa Braga, Carlos Miguel Pontinha, Sophie Patrier

{"title":"Stillbirth and Congenital Syphilis: Autopsy and Placental Findings of 11 Cases and Review of the Literature.","authors":"Raquel Ilgenfritz, Ana Catarina Lai, Filipa Galante Pereira, Ana Costa Braga, Carlos Miguel Pontinha, Sophie Patrier","doi":"10.1177/10935266241304844","DOIUrl":"https://doi.org/10.1177/10935266241304844","url":null,"abstract":"Syphilis is a preventable and treatable disease, which continues to strike low-income countries and vulnerable populations in high-income countries. It is caused by T pallidum, a spirochete capable of traversing the placental barrier, with a high rate of fetal and placental infection. Congenital syphilis (CoS) has poor prognosis if left untreated. Autopsy and placental evaluation are important tools to diagnose this disease in the obstetric scenario, to reveal the correct cause of demise and prevent complications in future pregnancies. We describe the histologic findings of eleven feto-placental examinations of non-treated CoS with fetal hydrops and stillbirth. Fetal findings are variable, with hydrops, X-ray long bone metaphyseal bands and hepatic lesions as the most consistent autopsy findings. The combination of chronic and acute villitis/intervillitis is a common placental feature in CoS, and the presence of mixed inflammatory populations is a key to suspect treponemal infection. Mothers from vulnerable populations and with poor obstetric care also deserve increased efforts to rule out CoS as cause of death. This constellation of findings must lead to further testing with direct methods (PCR or tissue immunohistochemistry for T pallidum).","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266241304844"},"PeriodicalIF":1.3,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820243","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.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub 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":"https://doi.org/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":"10935266241304692"},"PeriodicalIF":1.3,"publicationDate":"2024-12-10","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

Are PDFGRA Dinucleotide Alterations Definitional for Myxoid Glioneuronal Tumor? Report of PDFRA p. K385L Mutation in a Neonatal High-Grade Glioma.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub 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":"https://doi.org/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":"10935266241304711"},"PeriodicalIF":1.3,"publicationDate":"2024-12-10","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

A Unique Case of Cystic Partially Differentiated Nephroblastoma Associated With Botryoid Intralobar Nephrogenic Rests.

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-12-08 DOI: 10.1177/10935266241304691

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

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 : 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":"https://doi.org/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":"10935266241298805"},"PeriodicalIF":1.3,"publicationDate":"2024-11-25","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

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 : 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":"https://doi.org/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":"10935266241299073"},"PeriodicalIF":1.3,"publicationDate":"2024-11-18","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

Occurrence of Eosinophilic Granulocytes in the Decidua of Placentas With Perinatal Clinical Findings. 有围产期临床表现的胎盘蜕膜中出现嗜酸性粒细胞

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-11-11 DOI: 10.1177/10935266241295341

Henning Feist, Nora Schaumann

{"title":"Occurrence of Eosinophilic Granulocytes in the Decidua of Placentas With Perinatal Clinical Findings.","authors":"Henning Feist, Nora Schaumann","doi":"10.1177/10935266241295341","DOIUrl":"https://doi.org/10.1177/10935266241295341","url":null,"abstract":"Introduction: Inflammatory and immunologic homeostasis in the basal plate of the placenta is essential for the fetal development and growth, since the fetus immunologically constitutes a semi-allograft. Bone marrow derived eosinophilic granulocytes are usually not found in the basal plate.Materials and methods: We retrospectively analyzed the occurrence of eosinophilic granulocytes in the basal plate of singleton placentas and investigated clinical and pathologic-anatomic associations.Results: In 5 singleton placentas (0.3% of all investigated cases from the archive) eosinophilic granulocytes were detectable. All these cases also displayed chronic deciduitis. Two cases had a clinical history of substitution therapy with methadone, in 2 instances the mothers had a history of atopic diseases, and 1 mother had a SARS-CoV-2-infection during pregnancy.Conclusions: The infiltration of eosinophilic granulocytes in the decidua is a rare feature of placentas with perinatal clinical findings. Strikingly, all 5 affected cases also presented with chronic deciduitis. This may hint at a contribution of the eosinophilic infiltrate to a non-infectious pathologic inflammatory process with an increased risk for perinatal complications.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266241295341"},"PeriodicalIF":1.3,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142632039","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