Pediatric and Developmental Pathology最新文献

Differences in Placental Pathologic Features by Trimester of Infection with SARS-CoV-2. SARS-CoV-2感染不同妊娠期胎盘病理特征的差异

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-16 DOI: 10.1177/10935266251332697

Payu Raval, Paige M K Larkin, Kathy A Mangold, Sunitha Suresh, Alexa Freedman, Erica Price, Junguen Lee, Ena Basic, Linda M Sabatini, Linda M Ernst

{"title":"Differences in Placental Pathologic Features by Trimester of Infection with SARS-CoV-2.","authors":"Payu Raval, Paige M K Larkin, Kathy A Mangold, Sunitha Suresh, Alexa Freedman, Erica Price, Junguen Lee, Ena Basic, Linda M Sabatini, Linda M Ernst","doi":"10.1177/10935266251332697","DOIUrl":"https://doi.org/10.1177/10935266251332697","url":null,"abstract":"Introduction: We describe placental findings associated with SARS-CoV-2 infection in pregnancy and any differences between trimester of infection.Methods: We included 314 pregnant patients who tested positive for SARS-CoV-2 during pregnancy and had their placenta submitted for pathology examination. Trimester of infection was based on the gestational age at the time of infection. Placental pathology was categorized into acute inflammation (AI), chronic inflammation (CI), maternal vascular malperfusion (MVM), fetal vascular malperfusion (FVM), and divided into none, low-grade, and high-grade. RT-PCR for SARS-CoV-2 was performed on placenta tissue in 238/314 (75%) cases.Results: The prevalence of AI, CI, FVM, and MVM did not differ by trimester of infection. However, high-grade inflammatory and/or vascular pathology were more prevalent with earlier infection in pregnancy (1st trimester (27/40, 67.5%), 2nd trimester (37/67, 55.2%), and 3rd trimester (82/207, 39.6%, P < .01). Third trimester infection ≤10 days before delivery was associated with a higher prevalence of FVM compared to infection more remote from delivery (46/134, 34.3% vs 14/73, 19.2%; P < .02). We detected SARS-CoV-2 RNA in placenta, in 8/238 (3.4%) of cases.Conclusion: High-grade inflammatory and/or vascular placental pathology are more prevalent with earlier SARS-CoV-2 infection in pregnancy.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251332697"},"PeriodicalIF":1.3,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086971","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

Sinonasal Teratocarcinosarcoma: A Case Report in a 13-Year-Old Male. 鼻窦畸胎瘤：13岁男性1例报告。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-16 DOI: 10.1177/10935266251342073

Yamin Ma, Csaba Galambos, Timothy Garrington, Angus Toland, Samuel Guzman, Von Samedi, Lester D R Thompson

引用次数: 0

Diagnostic Utility of BCL-1/Cyclin D1 Immunohistochemical Staining in the Evaluation of Hirschsprung Disease. BCL-1/Cyclin D1免疫组化染色在巨结肠疾病诊断中的应用

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-16 DOI: 10.1177/10935266251339318

Annika L Windon, Lihui Qin, Uzayr Arif, Erika Marie Hissong, Jose Jessurun

{"title":"Diagnostic Utility of BCL-1/Cyclin D1 Immunohistochemical Staining in the Evaluation of Hirschsprung Disease.","authors":"Annika L Windon, Lihui Qin, Uzayr Arif, Erika Marie Hissong, Jose Jessurun","doi":"10.1177/10935266251339318","DOIUrl":"https://doi.org/10.1177/10935266251339318","url":null,"abstract":"Hirschsprung disease (HD) is a disorder caused by the failed migration of neural crest cells, resulting in abnormal innervation of the colon. Histologic hallmarks include the absence of ganglion cells and the presence of hypertrophic nerve fibers. At present, an immunostain for calretinin is the most used ancillary study. The supportive staining pattern for HD is the absence of immunoreactive ganglion cells and mucosal nerve fibers (neurites). While studying a patient with mantle cell lymphoma involving the colon, we observed a similar immunoreactive pattern for ganglion cells and neurites with anti-BCL-1 and hypothesize that this immunostain might complement calretinin staining. To test this hypothesis, we prospectively collected biopsy and resection specimens from patients clinically suspected of having HD. BCL-1 immunoreactive ganglion cells and/or mucosal neurites were observed in 10 biopsy specimens of patients without HD while these elements were absent in biopsy and affected areas of resection specimens in 12 patients with HD. The staining of ganglion cells and neurites dependent of the source of the antibody used. The parallel negative staining of neural elements with 2 unrelated antibodies provides credence to the absence of immunoreactivity for calretinin in the diagnostic workup of patients suspected of having HD.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251339318"},"PeriodicalIF":1.3,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086913","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

Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma. 伴性逆转、性腺发育不良和双侧性腺母细胞瘤的扁豆性发育不良。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-15 DOI: 10.1177/10935266251341510

Sarah Waszyn, Catherine Gestrich, Esther Elishaev

{"title":"Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.","authors":"Sarah Waszyn, Catherine Gestrich, Esther Elishaev","doi":"10.1177/10935266251341510","DOIUrl":"https://doi.org/10.1177/10935266251341510","url":null,"abstract":"Campomelic dysplasia (CD) is a rare skeletal dysplasia typically associated with a high neonatal mortality rate due to respiratory insufficiency. The condition is due to mutations in the SOX9 gene, which affects skeletal and sexual development. Mutations further away from this gene result in a milder condition, and thus some of those affected live into adulthood. Due to SOX9's effect on sexual development, there is sex reversal in approximately 75% of genotypic males (46XY). This report presents a unique case of a 1-year-old phenotypic female with a 46XY karyotype, diagnosed with CD, gonadal dysgenesis, and bilateral gonadoblastoma. The patient exhibited non-ambiguous female genitalia and a uterus but had undescended streak gonads. The streak gonads were surgically removed due to the increased risk of malignancy. Histological analysis revealed a right-sided streak gonad with multiple foci of dissecting gonadoblastoma and a left-sided streak gonad with classic gonadoblastoma. While the patients' gene break point lies at the 17q23.1 locus, outside of the widely accepted SOX9 region, there may be reason to believe her mutation is affecting the SOX9 gene. This case shows the importance of early diagnosis and intervention with gonadectomy in patients with campomelic dysplasia or other sex reversal disorders.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251341510"},"PeriodicalIF":1.3,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144082114","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

Pneumatoceles or Not? Case Reports on Pulmonary Cystic Lesions in Infants. 是否有肺气肿？婴儿肺囊性病变病例报告。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-12 DOI: 10.1177/10935266251338562

Florence Birru, Anne Hicks, Jake Mandziuk, Ioana Bratu

引用次数: 0

A Novel GLCCI1::BRAF Fusion With Independent MYC and MYCN Amplifications in Pediatric Pancreatic Acinar Cell Carcinoma. 一种新的GLCCI1::BRAF融合与独立MYC和MYCN扩增在儿童胰腺腺泡细胞癌中。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-07 DOI: 10.1177/10935266251337376

Lauren J Miller, Amer Heider, Lina Shao

{"title":"A Novel GLCCI1::BRAF Fusion With Independent MYC and MYCN Amplifications in Pediatric Pancreatic Acinar Cell Carcinoma.","authors":"Lauren J Miller, Amer Heider, Lina Shao","doi":"10.1177/10935266251337376","DOIUrl":"https://doi.org/10.1177/10935266251337376","url":null,"abstract":"Pediatric pancreatic acinar cell carcinoma (PACC) is a rare malignancy, comprising 5-15% of pediatric pancreatic tumors. BRAF rearrangement is found in 20%-30% of PACC cases. We report a case of PACC with a novel GLCCI1::BRAF fusion and independent amplifications in MYC and MYCN. A 10-year-old male presented with 6 months of weight loss, back pain, and loose stools. Imaging demonstrated concentric soft tissue thickening around the superior mesenteric artery, prompting biopsy of a periaortic lymph node showing metastatic PACC. Pancreaticoduodenectomy revealed PACC and metastatic deposits in multiple lymph nodes and retroperitoneal soft tissue. Fluorescence in situ hybridization of both the periaortic lymph node and pancreaticoduodenectomy specimens demonstrated BRAF gene rearrangement, with the partner identified as GLCCI1 by next generation sequencing and fusion assays. Chromosomal microarray analysis demonstrated amplification of MYC in the periaortic lymph node biopsy and amplification of MYCN in the resection specimen. The patient was treated with neoadjuvant chemotherapy, radiation, and a pan-RAF inhibitor, but developed new widespread metastasis and was deceased 22 months after presentation. The combination of the primary GLCCI1::BRAF fusion with secondary amplification of MYC and MYCN is likely to drive the aggressive behavior and metastasis in this case of PACC.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"10935266251337376"},"PeriodicalIF":1.3,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143992429","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

Indian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression. 印度儿童肝硬化2例文献复习及金属硫蛋白免疫组化表达意义

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-01-10 DOI: 10.1177/10935266241312362

Mukul Vij, Vaibhav Shah, Aashay Abhay Shah

{"title":"Indian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression.","authors":"Mukul Vij, Vaibhav Shah, Aashay Abhay Shah","doi":"10.1177/10935266241312362","DOIUrl":"10.1177/10935266241312362","url":null,"abstract":"Indian childhood cirrhosis is a chronic liver disease in infants and children. Indian childhood cirrhosis is unique to the Indian subcontinent and occurs from 6 months to 5 years of age. We report 2 cases in a period of 5 years, including 1 male and 1 female. Both children were less than 3 years of age. Presenting complaints were jaundice and hepatosplenomegaly. The clinical diagnosis was metabolic liver disease. Histological findings included diffuse hepatocellular ballooning degeneration, prominent Mallory Denk bodies, diffuse pericellular fibrosis, and marked copper/copper-associated protein deposits, along with the absence of steatosis and glycogenated nuclei. Mettalothionein immunohistochemistry was performed in 1 case and showed strong positivity. The first child developed liver failure and died. The second child was started on oral penicillamine therapy and is alive on the most recent follow-up. Whole-exome studies of both patients showed no significant findings. None of the children had exposure to excess dietary copper. Sporadic cases of Indian childhood cirrhosis continue to occur. There should be greater awareness among pediatricians and pathologists of the disease to enable earlier diagnosis. Awareness of metallothionein expression in biopsies of patients with Indian childhood cirrhosis is important to prevent misdiagnosis of Wilson disease.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"197-203"},"PeriodicalIF":1.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959075","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

Evaluating Bone Marrow Involvement in Pediatric Neuroblastoma: Traditional Methods and Emerging Technologies-A Systematic Review. 评估小儿神经母细胞瘤的骨髓受累：传统方法和新兴技术-系统综述。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-03-30 DOI: 10.1177/10935266251325632

Lavleen Singh, Venkateswaran K Iyer, Nishikant A Damle, Jagdish Meena, Rachna Seth, Aditya Gupta, Aanchal Kakkar, Kanika Rastogi, Chandrasekaran Ganapathy

{"title":"Evaluating Bone Marrow Involvement in Pediatric Neuroblastoma: Traditional Methods and Emerging Technologies-A Systematic Review.","authors":"Lavleen Singh, Venkateswaran K Iyer, Nishikant A Damle, Jagdish Meena, Rachna Seth, Aditya Gupta, Aanchal Kakkar, Kanika Rastogi, Chandrasekaran Ganapathy","doi":"10.1177/10935266251325632","DOIUrl":"10.1177/10935266251325632","url":null,"abstract":"Neuroblastoma (NB) is the most common extracranial solid neoplasm affecting the pediatric population. It shows a high prevalence of bone marrow infiltration (BMI), which substantially impacts the disease's staging and prognostic assessment. Conventional methodologies, including bone marrow biopsy (BMB) and aspirate (BMA), have been extensively employed; nevertheless, the advent of novel technologies presents a promising avenue for diagnostic accuracy. This systematic review is designed to critically analyze and compare the established techniques (BMB and BMA) versus novel diagnostic approaches-such as immunocytology, RT-qPCR, and multiparametric flow cytometry (FCM), along with functional imaging like MIBG scintigraphy and FDG-PET/CT-in assessing BMI in pediatric NB. An exhaustive search was performed across the PubMed and Embase databases, identifying 2694 scholarly articles. Following a meticulous screening process and the application of inclusion criteria centered on diagnostic accuracy, sensitivity, and specificity about BMI, a total of 140 articles were selected for qualitative analysis. While BMB remains the gold standard for diagnosing and staging BMI in NB, recent advances in molecular techniques and functional imaging have shown superior sensitivity and specificity. Immunocytology and RT-qPCR can detect minimal residual disease (MRD) with higher sensitivity compared to traditional methods. Functional imaging modalities, particularly FDG-PET/CT and MIBG scintigraphy, have demonstrated improved accuracy in assessing bone marrow involvement with the added advantage of evaluating the entire bone marrow, overcoming the limitations of focal sampling in BMB. The integration of advanced molecular diagnostics and functional imaging with traditional biopsy methods enhances the accuracy of BMI in NB.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"151-163"},"PeriodicalIF":1.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756053","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

Hepatic Expression of Fibroblast Growth Factor 19 Significantly Correlates With Serum Bile Acids in Neonatal Cholestasis. 成纤维细胞生长因子19的肝脏表达与新生儿胆汁淤积症的血清胆汁酸显著相关。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-02-26 DOI: 10.1177/10935266251322941

Ola A Fouad, Doaa F Zaghlol, Dina M Sweed, Magdy A Saber, Mostafa M Sira

{"title":"Hepatic Expression of Fibroblast Growth Factor 19 Significantly Correlates With Serum Bile Acids in Neonatal Cholestasis.","authors":"Ola A Fouad, Doaa F Zaghlol, Dina M Sweed, Magdy A Saber, Mostafa M Sira","doi":"10.1177/10935266251322941","DOIUrl":"10.1177/10935266251322941","url":null,"abstract":"Background: Bile acids in the ileum act as a feedback regulator of their own synthesis by inducing the release of ileal fibroblast growth factor 19 (FGF19), which inhibits the cholesterol-7-alpha hydroxylase enzyme. In cholestasis, this feedback mechanism is dysregulated. FGF19 is not expressed in the healthy liver. We aimed to assess the hepatic expression of FGF19 in neonatal cholestasis (NC) and its relation to serum bile acids.Methods: The study included 41 patients with NC. FGF19 immunohistochemical staining in liver tissue (hepatocytes, endothelial cells, bile ducts, and bile canaliculi) was evaluated as negative, weak, moderate, and strong staining. FGF19 staining in 6 liver samples from explants of children with Crigler-Najjar syndrome type-1 served as controls.Results: Hepatocyte, endothelial, and canalicular FGF19 expression was significantly higher in cholestasis group compared to controls (P = .039, .006, and .028 respectively). Serum bile acids had significant correlation with hepatocyte FGF19, endothelial, and bile duct FGF19 expressions (P = .002, .003, and .01, respectively) but not with canalicular FGF19 expression. Hepatocyte FGF19 expression significantly associated with cholestasis severity in terms of serum total bilirubin, direct bilirubin, and aspartate transaminase levels (P = .01, .02, and .02, respectively).Conclusion: Hepatic FGF19 expression significantly upregulated in NC and correlated with cholestasis severity.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"179-189"},"PeriodicalIF":1.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143517452","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

Bacillus cereus Sepsis in Preterm Neonates Caused by Central Venous Catheter: A Case Report. 中心静脉导管致早产儿蜡样芽孢杆菌脓毒症1例。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-01-31 DOI: 10.1177/10935266251316754

Li Xiaoxiao, Long Dianfa, Xu Hui, Yang Min

引用次数: 0