Pediatric and Developmental Pathology最新文献_第4页

Validation of A Nationwide Digital Pediatric Pathology Consultation Network. 全国数字儿科病理咨询网络的验证。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-02-10 DOI: 10.1177/10935266251316782

Haiying Chen, Juan Putra, Anita Nagy, Jefferson Terry, Dina El Demellawy, Joseph de Nanassy, Erica Schollenberg, Aaron Haig, Camelia Stefanovici, Kathryn Whelan, Alysa Poulin, Dorothee Dal Soglio, Zesheng Chen, Brian Smith, Cindy Fiore, Gino R Somers

{"title":"Validation of A Nationwide Digital Pediatric Pathology Consultation Network.","authors":"Haiying Chen, Juan Putra, Anita Nagy, Jefferson Terry, Dina El Demellawy, Joseph de Nanassy, Erica Schollenberg, Aaron Haig, Camelia Stefanovici, Kathryn Whelan, Alysa Poulin, Dorothee Dal Soglio, Zesheng Chen, Brian Smith, Cindy Fiore, Gino R Somers","doi":"10.1177/10935266251316782","DOIUrl":"10.1177/10935266251316782","url":null,"abstract":"Background: Digital pathology facilitates remote pathology consultations. Pediatric pathologists in Canada formed a nationwide digital pathology consultation network, mostly for second opinion review of pediatric cancer cases. Validation of such a large network for clinical use is challenging. Here we report our unique validation process of this digital pathology network.Method: This study was designed in keeping with the College of American Pathologist (CAP) guidelines, and included 14 pathologists from 9 hospitals across Canada. All cases are pediatric pathology cases. Each pathologist reviewed multiple digital cases and the corresponding glass slide cases. For each review, intra-observer concordance (diagnosis on digital case versus diagnosis on glass slide case) was recorded, creating a data point.Result: The study generated 269 valid diagnostic data points. Out of the 269 data points, 257 were concordant (95.5% concordance), exceeding the CAP recommendation of 95% concordance. Thus, the network was successfully validated.Conclusion: This is a unique validation study for a large nationwide digital pediatric pathology network. The study involved all pathologists/hospitals in the network, closely emulating real world clinical process. The network was successfully validated.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"164-171"},"PeriodicalIF":1.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143384005","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

Genetically Distinct Acute Megakaryoblastic Leukemia following Low Hypodiploid B-Lymphoblastic Leukemia linked by TP53 Mutation. TP53突变与低次二倍体b淋巴母细胞白血病相关的急性巨核母细胞白血病的遗传差异

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-02-03 DOI: 10.1177/10935266251316150

Jaryse C Harris, Jeffrey Schubert, Brian Lockhart, Rachel Olson, Michele E Paessler, Elizabeth Margolskee, Vinodh Pillai, Jinhua Wu, Netta Golenberg, Jiani Chen, Elizabeth H Denenberg, Tammy Luke, Minjie Luo, Yiming Zhong, Marilyn M Li, Gerald B Wertheim

{"title":"Genetically Distinct Acute Megakaryoblastic Leukemia following Low Hypodiploid B-Lymphoblastic Leukemia linked by TP53 Mutation.","authors":"Jaryse C Harris, Jeffrey Schubert, Brian Lockhart, Rachel Olson, Michele E Paessler, Elizabeth Margolskee, Vinodh Pillai, Jinhua Wu, Netta Golenberg, Jiani Chen, Elizabeth H Denenberg, Tammy Luke, Minjie Luo, Yiming Zhong, Marilyn M Li, Gerald B Wertheim","doi":"10.1177/10935266251316150","DOIUrl":"10.1177/10935266251316150","url":null,"abstract":"We report a case of acute myeloid leukemia with megakaryoblastic differentiation (AMKL) that developed after an initial B-lymphoblastic leukemia (B-ALL) with low hypodiploidy. Although the AMKL was initially thought either to be a phenotypic change from the original B-ALL or to have arisen as a result of treatment (acute myeloid leukemia, post cytotoxic therapy, AML-pCT [WHO]; AML, therapy related [ICC]), genetic evaluation of both the AMKL and the B-ALL suggest that neither of these considerations was correct. Rather, the AMKL did not harbor the most common genetic hallmark of AML-pCT-rearrangement of KMT2- and was genetically distinct from the B-ALL. Both the B-ALL and the AMKL, however, showed an identical TP53 mutation by next generation sequencing (NGS), while germline testing was negative for this mutant allele. Hence, either the patient had a tissue restricted constitutional TP53 mutation or had a somatic mutation in a multipotent hematopoietic precursor. This case highlights the necessity for close monitoring of patients with TP53-mutant tumors, as they may develop multiple lesions despite negative germline testing.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"214-219"},"PeriodicalIF":1.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12053263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081621","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

A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in GATA6: A Fetal Case Report. 一种心颅面综合征与一种新的GATA6错义变异相关：一个胎儿病例报告。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-02-13 DOI: 10.1177/10935266251319571

Sihem Darouich, Samia Darouich, Dorsaf Gtari, Houda Bellamine

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

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

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

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