Pediatric and Developmental Pathology最新文献_第10页

Spatial Localization of Eubacterial 16S rRNA in Early Pregnancy Placenta and Decidua. 妊娠早期胎盘和蜕膜中微细菌 16S rRNA 的空间定位

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-12-14 DOI: 10.1177/10935266231217629

Cornelia Thoeni, Jefferson Terry

引用次数: 0

Clinicopathologic Characterization of Lymphocytic Colitis in the Pediatric Population. 儿科淋巴细胞性结肠炎的临床病理学特征

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-12-31 DOI: 10.1177/10935266231215117

Iván A González, Maire Conrad, Sarah Weinbrom, Trusha Patel, Judith R Kelsen, Pierre Russo

{"title":"Clinicopathologic Characterization of Lymphocytic Colitis in the Pediatric Population.","authors":"Iván A González, Maire Conrad, Sarah Weinbrom, Trusha Patel, Judith R Kelsen, Pierre Russo","doi":"10.1177/10935266231215117","DOIUrl":"10.1177/10935266231215117","url":null,"abstract":"Background: Lymphocytic colitis (LC) in the pediatric population has been associated with immune dysregulation.Methods: Single-center retrospective study of pediatric LC.Results: 50 patients (35 female, 70%) with a median age of 12 years at diagnosis (interquartile range: 5.7-15.8) of LC were identified. At presentation, 11 patients (22%) had malnutrition, 16 (32%) had a known underlying immune dysregulation, 4 (8%) had celiac disease (CD), and none had a diagnosis of inflammatory bowel disease. The most common medications prior to diagnosis were non-steroidal anti-inflammatory drugs, proton pump inhibitor, and selective serotonin reuptake inhibitors (10% each). Colonic biopsies showed a median number of intraepithelial lymphocytes (IELs)/100 epithelial cells of 48 (range: 25-85), and only 10% of cases had neutrophilic cryptitis. Upper gastrointestinal tract findings included lymphocytic esophagitis (4%), and duodenal IELs without and with villous blunting (9% each) (n: 47). Ten patients (23%) had increased IELs in the terminal ileum (n: 43). Treatments including 5-ASA, budesonide, prednisone, and gluten-free diet improved symptoms in <50% of patients (n: 42), and all follow-up colonoscopies showed persistent LC (n: 13).Conclusion: Our study supports the association of LC with immune-mediated conditions, most commonly celiac disease. Symptomatic improvement was seen in <50% of patients with none of the patients with repeat colonoscopy showing histologic improvement.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"156-168"},"PeriodicalIF":1.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139075906","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

#PediPath: Addressing Pediatric Pathology Recruitment Through Social Media and Other Online Platforms. #PediPath：通过社交媒体和其他在线平台解决儿科病理学招聘问题。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2024-01-14 DOI: 10.1177/10935266231221321

Casey P Schukow, Oscar F Lopez-Nunez

引用次数: 0

Molecular Profiling of a Hepatocellular Neoplasm Not Otherwise Specified (HCN-NOS) Demonstrates Distinct Molecular Features in Hepatoblastoma and HCC-Like Components. 未另行指定的肝细胞肿瘤（HCN-NOS）的分子图谱在肝母细胞瘤和HCC样成分中显示出不同的分子特征。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-10-30 DOI: 10.1177/10935266231204788

Yan Chen Wongworawat, Stephen F Sarabia, Martin Urbicain, Paola Francalanci, Pavel Sumazin, Rita Alaggio, Dolores H López-Terrada

{"title":"Molecular Profiling of a Hepatocellular Neoplasm Not Otherwise Specified (HCN-NOS) Demonstrates Distinct Molecular Features in Hepatoblastoma and HCC-Like Components.","authors":"Yan Chen Wongworawat, Stephen F Sarabia, Martin Urbicain, Paola Francalanci, Pavel Sumazin, Rita Alaggio, Dolores H López-Terrada","doi":"10.1177/10935266231204788","DOIUrl":"10.1177/10935266231204788","url":null,"abstract":"Hepatoblastomas (HB) are embryonal tumors with quiet genomes diagnosed mostly in children under 3 years of age and often cured by surgical resection and chemotherapy. However, a subset of HBs behave aggressively, displaying characteristic histologic features and higher genomic instability. Hepatocellular neoplasm-not otherwise specified (HCN-NOS) is a provisional diagnostic category for tumors exhibiting either intermediate or a combination of both HB and hepatocellular carcinoma (HCC) histological features. In this study, we characterized an HCN-NOS diagnosed in a 3-year-old patient presenting with a liver mass, in which both HB and HCC histological components were amendable to macro-dissection and molecular profiling. The spectrum of mutations, copy number changes, mRNA, and protein expression profiles within these 2 histologically distinct tumor areas demonstrate molecular heterogeneity and suggest intratumoral clonal evolution of this hepatocellular CTNNB1-mutant lesion.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"169-175"},"PeriodicalIF":1.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11015706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415315","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

Spontaneous Partial Regression of Fetal Lung Interstitial Tumor With A2M::ALK Rearrangement in a Neonate. A2M:ALK重排对新生儿胎肺间质瘤的自发部分消退。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-10-11 DOI: 10.1177/10935266231189929

Alfonso Tan-Garcia, York Tien Lee, Chik Hong Kuick, Shui Yen Soh, Kenneth Tou-En Chang, Khurshid Merchant

引用次数: 0

Fetal and Neonatal Autopsy in the Molecular Age: Exploring Tissue Selection for Testing Success. 分子时代的胎儿和新生儿尸检：探索成功检测的组织选择。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-12-14 DOI: 10.1177/10935266231214880

Elizabeth S Doughty, Miriam D Post

{"title":"Fetal and Neonatal Autopsy in the Molecular Age: Exploring Tissue Selection for Testing Success.","authors":"Elizabeth S Doughty, Miriam D Post","doi":"10.1177/10935266231214880","DOIUrl":"10.1177/10935266231214880","url":null,"abstract":"While conventional autopsy is the gold-standard for determining cause of demise in the fetal and neonatal population, molecular analysis is increasingly used as an ancillary tool. Testing methods and tissue selection should be optimized to provide informative genetic results. This institutional review compares testing modalities and postmortem tissue type in 53 demises occurring between 20 weeks of gestation and 28 days of life. Testing success, defined as completion of analysis, varies by technique and may require viable cells for culture or extractable nucleic acid. Success was achieved by microarray in 29/30 tests (96.7%), karyotype in 40/54 tests (74.1%), fluorescent in situ hybridization in 5/9 tests (55.6%), and focused gene panels in 2/2 tests (100%). With respect to tissue type, postmortem prepartum amniotic fluid was analyzed to completion in 100% of tests performed; compared to 84.0%, 54.5%, and 80.8% of tests using placenta, fetal only, and mixed fetal-placental tissue collection, respectively. Sampling skin (83.3%, in cases with minimal maceration) and kidney (75.0%) were often successful, compared to lower efficacy of umbilical cord (57.1%) and liver (25.0%). Addition of genetic testing into cases with anomalous clinical and gross findings can increase the utility of the final report for family counseling and future pregnancy planning.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"148-155"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138812761","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

How Many Tests Does It Take to Diagnose a Triple-Hit B-Lymphoblastic Lymphoma? (Hint, It's A Lot). 诊断三打b淋巴母细胞淋巴瘤需要多少次检查?(提示，这是很多)。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-11-30 DOI: 10.1177/10935266231212337

Marie Das, Karen D Tsuchiya, Sandra D Bohling, Billy Davis, Samuel Hwang, Rebecca A Gardner, Karen M Chisholm

引用次数: 0

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease. 产前棺材-西里斯综合征:扩大疾病的表型和基因型谱。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-11-19 DOI: 10.1177/10935266231210155

Sini Keskinen, Teija Paakkola, Mirjami Mattila, Marja Hietala, Hannele Koillinen, Jukka Laine, Maria K Haanpää

{"title":"Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.","authors":"Sini Keskinen, Teija Paakkola, Mirjami Mattila, Marja Hietala, Hannele Koillinen, Jukka Laine, Maria K Haanpää","doi":"10.1177/10935266231210155","DOIUrl":"10.1177/10935266231210155","url":null,"abstract":"Coffin-Siris syndrome is an autosomal dominant disorder with neurological, cardiovascular, and gastrointestinal symptoms. Patients with Coffin-Siris syndrome typically have variable degree of developmental delay or intellectual disability, muscular hypotonia, dysmorphic facial features, sparse scalp hair, but otherwise hirsutism and fifth digit nail or distal phalanx hypoplasia or aplasia. Coffin-Siris syndrome is caused by pathogenic variants in 12 different genes including SMARCB1 and ARID1A. Pathogenic SMARCB1 gene variants cause Coffin-Siris syndrome 3 whereas pathogenic ARID1A gene variants cause Coffin-Siris syndrome 2. Here, we present two prenatal Coffin-Siris syndrome cases with autosomal dominant pathogenic variants: SMARCB1 gene c.1066_1067del, p.(Leu356AspfsTer4) variant, and a novel ARID1A gene c.1920+3_1920+6del variant. The prenatal phenotype in Coffin-Siris syndrome has been rarely described. This article widens the phenotypic spectrum of prenatal Coffin-Siris syndrome with severely hypoplastic right ventricle with VSD and truncus arteriosus type III, persisting left superior and inferior caval vein, bilateral olfactory nerve aplasia, and hypoplastic thymus. A detailed clinical description of the patients with ultrasound, MRI, and post mortem pictures of the affected fetuses showing the wide phenotypic spectrum of the disease is presented.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"181-186"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11015708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138048813","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

Manual and Semi-Automated Measurement and Calculation of Osteosarcoma Treatment Effect Using Whole Slide Image and Qupath. 使用全幻灯片图像和Qupath手动和半自动测量和计算骨肉瘤治疗效果。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-01-01 Epub Date: 2023-11-09 DOI: 10.1177/10935266231207937

Mai He, Bofan He, Jinyi Weng, Jerry Q Cheng, Huanying Gu

{"title":"Manual and Semi-Automated Measurement and Calculation of Osteosarcoma Treatment Effect Using Whole Slide Image and Qupath.","authors":"Mai He, Bofan He, Jinyi Weng, Jerry Q Cheng, Huanying Gu","doi":"10.1177/10935266231207937","DOIUrl":"10.1177/10935266231207937","url":null,"abstract":"Introduction: In osteosarcoma, the most significant indicator of prognosis is the histologic changes related to tumor response to preoperative chemotherapy, such as necrosis. We have developed a method to measure the osteosarcoma treatment effect using whole slide image (WSI) with an open-source digital image analytical software Qupath.Materials and methods: In Qupath, each osteosarcoma case was treated as a project. All H&E slides from the entire representative slice of osteosarcoma were scanned into WSIs and imported into a project in Qupath. The regions of tumor and tumor necrosis were annotated, and their areas were measured in Qupath. In order to measure the osteosarcoma treatment effect, we needed to calculate the percentage of total necrosis area over total tumor area. We developed a tool that can automatically extract all values of tumor and necrosis areas from a Qupath project into an Excel file, sum these values for necrosis and whole tumor respectively, and calculate necrosis/tumor percentage.Conclusion: Our method that combines WSI with Qupath can provide an objective measurement to facilitate pathologist's assessment of osteosarcoma response to treatment. The proposed approach can also be used for other types of tumors that have clinical need for post-treatment response assessment.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"32-38"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72016185","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

The Incidence of Multiple Fusions in a Series of Pediatric Soft Tissue and Bone Tumors. 一系列儿童软组织和骨肿瘤中多发性融合的发生率。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-01-01 Epub Date: 2023-09-28 DOI: 10.1177/10935266231199928

Anastasia MacKeracher, Anthony Arnoldo, Robert Siddaway, Lea F Surrey, Gino R Somers

{"title":"The Incidence of Multiple Fusions in a Series of Pediatric Soft Tissue and Bone Tumors.","authors":"Anastasia MacKeracher, Anthony Arnoldo, Robert Siddaway, Lea F Surrey, Gino R Somers","doi":"10.1177/10935266231199928","DOIUrl":"10.1177/10935266231199928","url":null,"abstract":"Background: Next generation sequencing (NGS) has increased the detection of fusion genes in cancer. NGS has found multiple fusions in single tumor samples; however, the incidence of this in pediatric soft tissue and bone tumors (PSTBTs) is not well documented. The aim of this study is to catalogue the incidence of multiple fusions in a series of PSTBTs, and apply a modified gene fusion classification system to determine clinical relevance.Methodology: RNA from 78 bone and soft tissue tumors and 7 external quality assessment samples were sequenced and analyzed using recently-described Metafusion (MF) software and classified using a modification of previously-published schema for fusion classification into 3 tiers: 1, strong clinical significance; 2, potential clinical significance; and 3, unknown clinical significance.Results: One-hundred forty-five fusions were detected in 85 samples. Fifty-five samples (65%) had a single fusion and 30 (35%) had more than 1 fusion. No samples contained more than 1 tier 1 fusion. There were 40 tier 1 (28%), 36 tier 2 (24%), and 69 (48%) tier 3 fusions.Conclusions: A significant percentage of PSTBTs harbor more than 1 fusion, and by applying a modified fusion classification scheme, the potential clinical relevance of such fusions can be determined.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"3-12"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10800079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41151366","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