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Nephrotic Syndrome Throughout Childhood: Diagnosing Podocytopathies From the Womb to the Dorm. 贯穿儿童期的肾病综合征：从子宫到宿舍诊断荚膜组织病变。
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-09-01 Epub Date: 2024-05-14 DOI: 10.1177/10935266241242669
Laura S Finn
{"title":"Nephrotic Syndrome Throughout Childhood: Diagnosing Podocytopathies From the Womb to the Dorm.","authors":"Laura S Finn","doi":"10.1177/10935266241242669","DOIUrl":"10.1177/10935266241242669","url":null,"abstract":"<p><p>The etiologies of podocyte dysfunction that lead to pediatric nephrotic syndrome (NS) are vast and vary with age at presentation. The discovery of numerous novel genetic podocytopathies and the evolution of diagnostic technologies has transformed the investigation of steroid-resistant NS while simultaneously promoting the replacement of traditional morphology-based disease classifications with a mechanistic approach. Podocytopathies associated with primary and secondary steroid-resistant NS manifest as diffuse mesangial sclerosis, minimal change disease, focal segmental glomerulosclerosis, and collapsing glomerulopathy. Molecular testing, once an ancillary option, has become a vital component of the clinical investigation and when paired with kidney biopsy findings, provides data that can optimize treatment and prognosis. This review focuses on the causes including selected monogenic defects, clinical phenotypes, histopathologic findings, and age-appropriate differential diagnoses of nephrotic syndrome in the pediatric population with an emphasis on podocytopathies.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"426-458"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923471","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
Response to Letter to the Editor: "Remote Placental Sign-Out: What Digital Pathology Can Offer for Pediatric Pathologists". 回应致编辑的信："远程胎盘签出：数字病理学能为儿科病理学家带来什么"。
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1177/10935266231225791
Stefano Marletta, Liron Pantanowitz, Nicola Santonicco, Alessandro Caputo, Emma Bragantini, Matteo Brunelli, Ilaria Girolami, Albino Eccher
{"title":"Response to Letter to the Editor: \"Remote Placental Sign-Out: What Digital Pathology Can Offer for Pediatric Pathologists\".","authors":"Stefano Marletta, Liron Pantanowitz, Nicola Santonicco, Alessandro Caputo, Emma Bragantini, Matteo Brunelli, Ilaria Girolami, Albino Eccher","doi":"10.1177/10935266231225791","DOIUrl":"10.1177/10935266231225791","url":null,"abstract":"","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"377-378"},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102867","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
Interfollicular Classic Hodgkin Lymphoma: Report of a Case and a Brief Review of Literature. 滤泡间典型霍奇金淋巴瘤：病例报告与文献简评。
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1177/10935266241236874
Kristina Brannock, Samir B Kahwash
{"title":"Interfollicular Classic Hodgkin Lymphoma: Report of a Case and a Brief Review of Literature.","authors":"Kristina Brannock, Samir B Kahwash","doi":"10.1177/10935266241236874","DOIUrl":"10.1177/10935266241236874","url":null,"abstract":"<p><p>Interfollicular Hodgkin lymphoma (IHL) has been rarely reported in the literature and is recognized by the WHO Classification as a morphologic pattern sometimes seen in mixed cellularity classic Hodgkin lymphoma (CHL). The changes may be subtle due to preservation of architecture. We report a case of a 9-year-old male with IHL showing preserved follicular architecture but with the presence of interfollicular infiltrates consisting of eosinophils, plasma cells, and Hodgkin-Reed-Sternberg (HRS) cells. Immunophenotyping confirmed the morphologic suspicion for IHL. A discussion and review of the literature are offered. We conclude that IHL is a variant that requires a high index of suspicion, as it may be easily missed due to the subtle morphologic features and preserved architecture seen in most cases. We further emphasize that unexplained interfollicular infiltrates of eosinophils may be clues that should prompt a search of HRS cells and consideration of immunohistochemical staining if needed.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"354-358"},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102864","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
Childhood and Adolescent Relapsed/Refractory Aggressive B-Cell Lymphomas With t(8;14) and BCL2 Expression, Burkitt Lymphoma Versus Diffuse Large B-Cell Lymphoma: A Diagnostic Challenge. 具有t（8;14）和BCL2表达的儿童和青少年复发/难治性侵袭性B细胞淋巴瘤、伯基特淋巴瘤与弥漫性大B细胞淋巴瘤：诊断难题。
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1177/10935266241230600
Fouad El Dana, Sofia Alexandra Garces Narvaez, Nader K El-Mallawany, Jennifer E Agrusa, ZoAnn E Dreyer, Andrea N Marcogliese, Mohamed Tarek Elghetany, Jyotinder N Punia, Chi Young Ok, Keyur P Patel, Dolores H Lopez-Terrada, Kevin E Fisher, Choladda V Curry
{"title":"Childhood and Adolescent Relapsed/Refractory Aggressive B-Cell Lymphomas With t(8;14) and BCL2 Expression, Burkitt Lymphoma Versus Diffuse Large B-Cell Lymphoma: A Diagnostic Challenge.","authors":"Fouad El Dana, Sofia Alexandra Garces Narvaez, Nader K El-Mallawany, Jennifer E Agrusa, ZoAnn E Dreyer, Andrea N Marcogliese, Mohamed Tarek Elghetany, Jyotinder N Punia, Chi Young Ok, Keyur P Patel, Dolores H Lopez-Terrada, Kevin E Fisher, Choladda V Curry","doi":"10.1177/10935266241230600","DOIUrl":"10.1177/10935266241230600","url":null,"abstract":"<p><p>We present 2 diagnostically challenging cases of pediatric/adolescent relapsed/refractory aggressive mature B-cell non-Hodgkin lymphoma (B-NHL) within the spectrum of Burkitt lymphoma and diffuse large B-cell lymphoma and illustrate the different therapeutic regimens that are employed for pediatric and adult cancer centers. Both cases displayed varying-sized lymphoma cells with occasional single prominent nucleoli and heterogeneous BCL2 expression. Cytogenetics revealed complex karyotypes with t(8:14)(q24.2;q32) and <i>IGH::MYC</i> rearrangement by FISH. Next generation sequencing revealed deleterious <i>TP53</i> and <i>MYC</i> mutations. We concluded that both could be diagnosed as \"DLBCL-NOS with <i>MYC</i> rearrangement\" using the current pathologic classifications, 2022 International Consensus Classification (ICC) and World Health Organization Classifications of Haematolymphoid Tumors (WHO-HAEM5). This report illustrates diagnostic challenges and treatment dilemmas that may be encountered, particularly for adolescent and young adults (AYA).</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"348-353"},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102827","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 Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report. 小儿原发性心脏纺锤形细胞肿瘤伴有罕见的 PDGFRA::USP8 基因融合：病例报告。
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-02-24 DOI: 10.1177/10935266231221903
Ariel Gershon, Anita Nagy, Gino R Somers, Shi-Joon Yoo, Furqan Shaikh, Osami Honjo, Robert Siddaway, Haiying Chen
{"title":"A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report.","authors":"Ariel Gershon, Anita Nagy, Gino R Somers, Shi-Joon Yoo, Furqan Shaikh, Osami Honjo, Robert Siddaway, Haiying Chen","doi":"10.1177/10935266231221903","DOIUrl":"10.1177/10935266231221903","url":null,"abstract":"<p><p>We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare <i>PDGFRA::USP8</i> gene fusion in a 3 year old boy. The patient presented with a large cardiac mass predominantly in the right ventricle, originating from the ventricular septum. The mass was resected with grossly negative margins. Pathology revealed an unclassified spindle cell neoplasm with a <i>PDGFRA::USP8</i> gene fusion. This gene fusion has only been previously reported twice in the medical literature, one in a pediatric cardiac sarcoma and the other in an abdominal soft tissue tumor in an adult woman. The patient is alive and well with no evidence of recurrence 11 months after excision.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"335-339"},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139944673","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
Remote Placental Sign-Out: What Digital Pathology Can Offer for Pediatric Pathologists. 远程胎盘签出：数字病理学能为儿科病理学家带来什么？
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-03-11 DOI: 10.1177/10935266231225799
Casey P Schukow, Jacqueline K Macknis
{"title":"Remote Placental Sign-Out: What Digital Pathology Can Offer for Pediatric Pathologists.","authors":"Casey P Schukow, Jacqueline K Macknis","doi":"10.1177/10935266231225799","DOIUrl":"10.1177/10935266231225799","url":null,"abstract":"","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"375-376"},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102866","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
Nephrotic Syndrome in a Child With NPHS2 Mutation. 一名 NPHS2 基因突变患儿的肾病综合征
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-01-30 DOI: 10.1177/10935266231223274
Ross Tollaksen, Randall D Craver, Ihor V Yosypiv
{"title":"Nephrotic Syndrome in a Child With <i>NPHS2</i> Mutation.","authors":"Ross Tollaksen, Randall D Craver, Ihor V Yosypiv","doi":"10.1177/10935266231223274","DOIUrl":"10.1177/10935266231223274","url":null,"abstract":"<p><p>Steroid resistant nephrotic syndrome (SRNS) accounts for 30% of all cases of nephrotic syndrome (NS) in children and frequently leads to end stage kidney disease (ESKD). About 30% of children with SRNS demonstrate causative mutations in podocyte- associated genes. Early identification of genetic forms of SRNS is critical to avoid potentially harmful immunosuppressive therapy. A 2-year-old male patient with NS and no family history of renal disease did not respond to 4-week steroid treatment. Kidney biopsy demonstrated mesangial proliferative glomerulopathy with basement membrane dysmorphism. Tacrolimus and Lisinopril were added to therapy pending results of genetic testing. Kidney Gene panel showed a NPHS2 c.413G>A (p.Arg138Gln) homozygous pathogenic variant. This missense variant is considered a common pathogenic founder mutation in European populations. A diagnosis of autosomal-recessive form of nonsyndromic SRNS due to NPHS2 causative variant was made. Immunosuppresive therapy was stopped, Lizinopril dose was increased and weekly infusions of Albumin/furosemide were initiated to manage edema. This case demonstrates that early genetic testing in children with SRNS avoids prolonged potentially harmful immunosuppressive therapy, allows for timely genetic family counseling, and allows earlier consideration for future living related donor kidney transplantation.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"359-363"},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139643349","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
Perfusion Pressure and the Histology of Brain Death: A Unique Case in an Infant Maintained on Life Support. 灌注压与脑死亡组织学：靠生命维持系统维持生命的婴儿的独特病例。
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-01-30 DOI: 10.1177/10935266231223276
Meagan Chambers, Gail Deutsch
{"title":"Perfusion Pressure and the Histology of Brain Death: A Unique Case in an Infant Maintained on Life Support.","authors":"Meagan Chambers, Gail Deutsch","doi":"10.1177/10935266231223276","DOIUrl":"10.1177/10935266231223276","url":null,"abstract":"<p><p>Brain death is a not uncommon phenomena in the adult and pediatric population. Most cases are removed from life support soon after brain death is declared. Less commonly, systemic perfusion is maintained by life support for some time after neurologic function stops. These cases present uncommon opportunities to explore the histology of necrosis and autolysis in the context of global hypoxic ischemic damage. Here, we describe the unusual case of an infant maintained on life support for 2 weeks after brain death was declared with an emphasis on the resulting gross and histologic findings including a discussion of their underlying physiology.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"364-368"},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139643350","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
Transnasal Endoscopy Acquires Esophageal Biopsies Adequate for Comprehensive Pathology Evaluation in Patients With Eosinophilic Esophagitis. 经鼻内窥镜检查获取的食管活检样本足以对嗜酸性粒细胞食管炎患者进行全面病理评估
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-05-25 DOI: 10.1177/10935266241255723
Oscar Lopez-Nunez, Anas Bernieh, Kara L Kliewer, Pratibha Kemtur, Scott M Bolton, Vincent A Mukkada, Ryan Schablein, Christopher Woods, Marc E Rothenberg, Margaret H Collins
{"title":"Transnasal Endoscopy Acquires Esophageal Biopsies Adequate for Comprehensive Pathology Evaluation in Patients With Eosinophilic Esophagitis.","authors":"Oscar Lopez-Nunez, Anas Bernieh, Kara L Kliewer, Pratibha Kemtur, Scott M Bolton, Vincent A Mukkada, Ryan Schablein, Christopher Woods, Marc E Rothenberg, Margaret H Collins","doi":"10.1177/10935266241255723","DOIUrl":"10.1177/10935266241255723","url":null,"abstract":"<p><strong>Background: </strong>Transnasal endoscopy (TNE) does not require general anesthesia, an attractive characteristic for monitoring eosinophilic esophagitis (EoE). We evaluated the adequacy of TNE-obtained esophageal biopsies using the EoE Histology Scoring System (EoEHSS).</p><p><strong>Methods: </strong>The Cincinnati Center for Eosinophilic Disorders database was searched for esophageal biopsies obtained by the same endoscopist, using either TNE or conventional endoscopy (CE). Whole-slide biopsy images were evaluated. The Mann-Whitney test was used for median (interquartile range) values and Fisher exact test for categorical variables. <i>P</i> ≤ .05 was considered significant.</p><p><strong>Results: </strong>Median age (<i>P</i> = .82) or height (<i>P</i> = .83) did not differ between TNE (n = 17) and CE (n = 17) groups. Although median largest piece size (mm<sup>2</sup>) differed between the groups (TNE: 0.59 (0.45, 0.86), CE: 2.24 (1.09, 2.82), <i>P</i> < .001), all 8 EoEHSS features were evaluated in each group; only 1 feature (lamina propria fibrosis) was missing in both groups (TNE: 19/34, CE: 11/34, <i>P</i> = .09). The median peak eosinophil count/high-power field differed (TNE: 3 (0, 29), CE: 16 (1, 66), <i>P</i> = .03), but overall grade (TNE: 0.17 (0.10, 0.29), CE: 0.22 (0.14, 0.46), <i>P</i> = .12), stage (TNE: 0.14 (0.10, 0.24), CE: 0.20 (0.10, 0.43), <i>P</i> = .15), and non-eosinophil-related individual EoEHSS scores did not differ.</p><p><strong>Conclusions: </strong>TNE- and CE-obtained esophageal biopsies are similarly sufficient for evaluation of key pathological features in EoE.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"327-334"},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141094473","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
In Utero Extrahepatic Bile Duct Damage and Repair: Implications for Biliary Atresia. 胎儿肝外胆管损伤和修复：胆道闭锁的影响。
IF 1.3 4区 医学
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-05-19 DOI: 10.1177/10935266241247479
Iris E M de Jong, Rebecca G Wells
{"title":"In Utero Extrahepatic Bile Duct Damage and Repair: Implications for Biliary Atresia.","authors":"Iris E M de Jong, Rebecca G Wells","doi":"10.1177/10935266241247479","DOIUrl":"10.1177/10935266241247479","url":null,"abstract":"<p><p>Biliary atresia (BA) is a cholangiopathy affecting the extrahepatic bile duct (EHBD) of newborns. The etiology and pathophysiology of BA are not fully understood; however, multiple causes of damage and obstruction of the neonatal EHBD have been identified. Initial damage to the EHBD likely occurs before birth. We discuss how different developmental stages in utero and birth itself could influence the susceptibility of the fetal EHBD to damage and a damaging wound-healing response. We propose that a damage-repair response of the fetal and neonatal EHBD involving redox stress and a program of fetal wound healing could-regardless of the cause of the initial damage-lead to either obstruction and BA or repair of the duct and recovery. This overarching concept should guide future research targeted toward identification of factors that contribute to recovery as opposed to progression of injury and fibrosis. Viewing BA through the lens of an in utero damage-repair response could open up new avenues for research and suggests exciting new therapeutic targets.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"291-310"},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960954","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
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