Pediatric and Developmental Pathology最新文献_第8页

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

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":null,"pages":null},"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

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":null,"pages":null},"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

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":null,"pages":null},"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

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":null,"pages":null},"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

Relationship Between Anatomic Features of the Placenta, the Type of Abnormal Placental Cord Insertion and Adverse Pregnancy Outcomes in Singleton Pregnancies: A Prospective Observational Study. 单胎妊娠胎盘解剖特征、异常胎盘脐带插入类型与不良妊娠结局之间的关系：一项前瞻性观察研究。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-01-01 Epub Date: 2023-09-25 DOI: 10.1177/10935266231196413

Maliheh Fakehi, Parisa Hajari, Negin Nobatiani, Maryam Mazloomi, Nafiseh Hivechi, Mahnaz Kalati, Nadia Motamedi, Marjan Ghaemi

{"title":"Relationship Between Anatomic Features of the Placenta, the Type of Abnormal Placental Cord Insertion and Adverse Pregnancy Outcomes in Singleton Pregnancies: A Prospective Observational Study.","authors":"Maliheh Fakehi, Parisa Hajari, Negin Nobatiani, Maryam Mazloomi, Nafiseh Hivechi, Mahnaz Kalati, Nadia Motamedi, Marjan Ghaemi","doi":"10.1177/10935266231196413","DOIUrl":"10.1177/10935266231196413","url":null,"abstract":"Introduction: This study aimed to evaluate the potential value of placental anatomic features and various types of normal and abnormal cord insertion types in predicting adverse maternal-fetal outcomes in singleton pregnancies. We also tried to assess the association between these outcomes and various types of placental cord insertion.Method: This prospective observational study was performed on singleton pregnancies. For each patient placental features including diameter, thickness, type of cord insertion, and the shortest distance between the cord insertion point and placental edge were recorded. The relationship between these factors and the development of multiple adverse pregnancy outcomes including preterm labor, intrauterine fetal death (IUFD), and the rate of neonatal intensive care unit (NICU) admissions were evaluated and reported.Results: Overall 308 patients were enrolled in the study. Smoker mothers had significantly smaller placentas (P-value = .008), and those with lower diameter placentas were more likely to suffer from IUFD (P-value = .0001). Shorter placental cord insertion distances led to more episodes of preterm labor (P-value = .057). Eccentric-type placental cord insertion was significantly associated with the development of preeclampsia (P-value = .006).Discussion: Abnormalities in placental diameter and cord insertion can lead to significant maternal-fetal complications including preterm labor, IUFD, and preeclampsia.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41152410","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

Qualitative Immunodetection of Hsp70 in Nasal Samples of Children With Allergic Rhinitis. 过敏性鼻炎患儿鼻腔样本中 Hsp70 的定性免疫检测

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-01-01 Epub Date: 2023-12-14 DOI: 10.1177/10935266231212591

Francesca Simoncelli, Anna Fagotti, Ines Di Rosa, Livia Lucentini, Leonardo Brustenga, Giuseppe Di Cara

引用次数: 0

Urorectal Septum Malformation Sequence With Retroperitoneal Neuroblastoma: A Case Report of an Unusual Association. 腹膜后神经母细胞瘤合并泌尿直肠间隔畸形序列：一例异常关联病例报告。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-01-01 Epub Date: 2023-09-28 DOI: 10.1177/10935266231196032

Immanuel Pradeep, Naina Kumar, Poojitha Kalyani, Jitendra Singh Nigam, Shrinivas Bheemrao Somalwar, Annapurna Srirambhatla, Ashutosh Rath

引用次数: 0

Expanding the Spectrum of EWSR1::CREM Fusion Tumors: An Unusual Pediatric Intranasal Myxoid Tumor. 扩大EWSR1:：CREM融合瘤的范围：一种罕见的儿童鼻腔粘液瘤。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-01-01 Epub Date: 2023-10-11 DOI: 10.1177/10935266231199931

Shamen Koh, Lavisha S Punjabi, Kenneth Tou En Chang, Neville Wei Yang Teo, Constance Ee Hoon Teo, Shui Yen Soh, Henry Kun Kiaang Tan

引用次数: 0

Clinical and Histological Associations of Chronic Inflammatory Lesions in Preterm Placentas: Uncovering the Hidden Dangers. 早产胎盘慢性炎症性病变的临床和组织学相关性：揭开隐患。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-01-01 Epub Date: 2023-10-06 DOI: 10.1177/10935266231194161

Gayatri Ravikumar, Victoria Liza

{"title":"Clinical and Histological Associations of Chronic Inflammatory Lesions in Preterm Placentas: Uncovering the Hidden Dangers.","authors":"Gayatri Ravikumar, Victoria Liza","doi":"10.1177/10935266231194161","DOIUrl":"10.1177/10935266231194161","url":null,"abstract":"Background: Chronic placental inflammatory lesions (CPIL) include chronic deciduitis (CD), villitis of unknown etiology (VUE), and chronic chorioamnionitis (CCA). The frequency of these lesions and their relationship with various clinicopathological parameters in preterm birth (PTB) is presented.Material and methods: Preterm placentas from April 2018 to December 2020 were reviewed for presence of CPIL. PTB was classified as spontaneous, indicated, or mixed phenotype. The association of CPIL with clinical parameters like gestational age, birth weight, obstetric complications, and placental parameters like placental dimensions, weight, vascular malperfusion, acute inflammatory lesions, and basal plate myometrial fibers were analyzed.Results: The study included 538 preterm placentas with 54.3% from indicated PTB. CD was more common (28.4%) than VUE (17.8%) and CCA (12.6%). CD showed significant association with VUE and CCA (both P = .0001) and VUE with CCA (P = .0001). CD was more common in indicated PTB (33.8%, P = .002) and associated with lower birth weight (1591 g vs 1705 g, P = .003), lower placental weight (270.7 g vs 296.9 g, P = .004), length (14.2 cm vs 14.8 cm, P = .006), breadth (11.7 cm vs 12.2 cm, P = .007), maternal vascular malperfusion (P = .004), and basal plate myometrial fibers (P = .02). High-grade and multifocal low-grade VUE was associated with reduced placental length (13.9 cm vs 14.6 cm, P = .02)and breadth (11.5 cm vs 12.1 cm, P = .01). CCA did not show any other association.Conclusion: CPIL are common in PTB and their coexistence suggested a common pathogenic mechanism. Placental examination is the only definite way to identify as they lack clinical signs and symptoms. The smaller placental size associated with these lesions may suggest alter mechanisms for adverse pregnancy outcomes.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41150020","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