Pediatric and Developmental Pathology最新文献_第3页

Classic Hodgkin Lymphoma With Primary Presentation as Lytic Bone Lesions and Pancytopenia: Report of a Pediatric Case and Review of Literature. 原发表现为溶解性骨病变和全血细胞减少的典型霍奇金淋巴瘤：一例儿科病例的报告和文献综述。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub Date: 2025-03-15 DOI: 10.1177/10935266251326216

Jacob Christofi, Roopa Kodimyala, Summit Shah, Samir B Kahwash

引用次数: 0

Glypican-3 Staining in Non-Neoplastic Liver in 2 Pediatric Cases: A Potential Diagnostic Pitfall. Glypican-3染色在2例儿童非肿瘤性肝脏：一个潜在的诊断缺陷。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-07-01 Epub Date: 2025-03-29 DOI: 10.1177/10935266251331191

Qian Wang, Catherine K Gestrich

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

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

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

Sloughing Esophagitis in the Pediatric Age Group: Clinicopathologic Characteristics of 12 Cases. 小儿蜕膜性食管炎：12 例病例的临床病理特征

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-02-21 DOI: 10.1177/10935266251322063

Ashlie Rubrecht, David Saulino, Elham Nasri, Ashwini K Esnakula, David H Gonzalo, Michael M Feely, Genie L Beasley, Archana Shenoy

{"title":"Sloughing Esophagitis in the Pediatric Age Group: Clinicopathologic Characteristics of 12 Cases.","authors":"Ashlie Rubrecht, David Saulino, Elham Nasri, Ashwini K Esnakula, David H Gonzalo, Michael M Feely, Genie L Beasley, Archana Shenoy","doi":"10.1177/10935266251322063","DOIUrl":"10.1177/10935266251322063","url":null,"abstract":"Background: Sloughing esophagitis (esophagitis dissecans superficialis) is a benign, self-limited condition of uncertain etiology. It is most common in adults; pediatric literature is limited.Methods: Ten years of records were queried for esophageal biopsies containing terms \"sloughing\" and/or \"dissecans.\" Histologic inclusion criteria were \"two-tone\" appearance, sloughing/flaking of superficial epithelium, and parakeratosis. Degree of inflammation was documented and medical records were reviewed.Results: Fourteen patients were identified ranging from 1 to 19 years (mean = 14 years) and included 3 males and 11 females. Two patients were excluded due to lack of histologic criteria/unavailability of slides for review. Of the 12 cases evaluated, 6 showed a classic inflammation pattern, 5 had minimal or no inflammation, and 1 displayed severe acute inflammation. Endoscopy did not correlate with histology. Sloughing esophagitis is traditionally associated with Selective serotonin reuptake inhibitors (SSRI) use; though 5/12 patients were taking medication for anxiety or depression, only 3 were taking SSRIs. Five patients had marijuana/cannabinoid exposure.Conclusion: Sloughing esophagitis can present in the pediatric population across a wide age range. Similar to the adult population, etiology may be linked to medications. Additional associations such as marijuana/cannabinoid exposure need further clinical investigation. A subset of patients had a history of or subsequently developed eosinophilic esophagitis.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"172-178"},"PeriodicalIF":1.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469164","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

Bilateral Renal Fungal Bezoars and Perinephric Abscess in an Infant With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Clinico-pathologic Case Report. 婴儿关节挛缩-肾功能障碍-胆汁淤积综合征并发双侧肾真菌牛炎和肾周脓肿1例临床病理报告。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-01-24 DOI: 10.1177/10935266241312364

Sihem Darouich, Samia Darouich, Ahmed Khemiri, Houda Bellamine

{"title":"Bilateral Renal Fungal Bezoars and Perinephric Abscess in an Infant With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Clinico-pathologic Case Report.","authors":"Sihem Darouich, Samia Darouich, Ahmed Khemiri, Houda Bellamine","doi":"10.1177/10935266241312364","DOIUrl":"10.1177/10935266241312364","url":null,"abstract":"The patients with Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome have genetic susceptibility to the opportunistic infections due to the involvement of VPS33B (vacuolar protein sorting 33 homolog B) in phagolysosome fusion in macrophages. Detailed pathologic studies in ARC patients are missing in literature due to the lack of autopsy. We described the first autopsy case of ARC syndrome in a 2-month-old male infant. His death was due to recurrent sepsis and multiorgan failure despite the appropriate poly-antibiotic therapy and supportive care. The autopsy showed invasive renal candidiasis including bilateral destructive pyelonephritis, pelvic obstructive fungal bezoars, and right large perinephric abscess. The main other findings included severe chronic liver changes and pneumonia. Liver exhibited intrahepatocyte cholestasis, large multinucleated hepatocytes, diffuse portal, bridging and perivenular fibrosis, and interlobular bile duct proliferation. The neuropathologic examination was unremarkable. This case report highlights 3 novel findings. The ARC syndrome-related immunodeficiency may predispose to renal fungal bezoars and perinephric abscess. Cholestatic stress may result in the proliferation of interlobular ducts as an adaptive response. Absence of spinal motor neuron degeneration suggests that the neurogenic amyotrophy is due to the lack of synaptic vesicle trafficking and membrane fusion rather than the defect in cell survival-related autophagosome-lysosome fusion.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"190-196"},"PeriodicalIF":1.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143043367","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

Thanks to Reviewers. 感谢评论者。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-02-26 DOI: 10.1177/10935266251316482

引用次数: 0

Fibrosarcomatous Dermatofibrosarcoma Protuberans With COL1A1-PDGFB Fusion in a 2-Year-Old Child: A Rare Occurrence With Spectrum of Histopathological Findings and Review of Literature. 2岁儿童纤维肉瘤性皮肤纤维肉瘤隆突合并COL1A1-PDGFB融合：罕见的组织病理学发现和文献回顾。

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2025-05-01 Epub Date: 2025-01-21 DOI: 10.1177/10935266251313604

Sumanta Das, Jayati Sarangi, Sunita Ahlawat, Priti Jain, Priya Tiwari

{"title":"Fibrosarcomatous Dermatofibrosarcoma Protuberans With COL1A1-PDGFB Fusion in a 2-Year-Old Child: A Rare Occurrence With Spectrum of Histopathological Findings and Review of Literature.","authors":"Sumanta Das, Jayati Sarangi, Sunita Ahlawat, Priti Jain, Priya Tiwari","doi":"10.1177/10935266251313604","DOIUrl":"10.1177/10935266251313604","url":null,"abstract":"Dermatofibrosarcoma protuberans (DFSP) is an intermediate-grade fibroblastic neoplasm commonly seen in young and middle-aged patients and rarely in pediatric patients. Fibrosarcomatous transformation is common in adults but extremely uncommon in children. Here, we present a case of a 2-year-old child who presented with a progressively enlarging subcutaneous mass in the knee. Histopathological examination revealed a spindle cell tumor with a storiform and fascicular pattern. Immunohistochemistry showed variable cluster of differentiation 34 (CD34) expression, with positivity in storiform areas and negativity in fascicular regions. Next-generation sequencing confirmed the diagnosis by detecting a collagen type I alpha 1 (COL1A1)-platelet-derived growth factor subunit B (PDGFB) fusion, with the PDGFB breakpoint in exon 2 (chromosome 22) and COL1A1 in intron 47 (chromosome 17). This case represents only the fifth reported instance of fibrosarcomatous DFSP in a child under 10 years old. While wide local excision remains the standard treatment for DFSP, targeted therapy with imatinib may be considered for unresectable, recurrent, or metastatic cases, though guidelines for pediatric patients are not yet established. This case highlights the importance of molecular testing in confirming the diagnosis of rare pediatric soft tissue tumors and contributes to the limited literature on fibrosarcomatous DFSP in very young children.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"204-209"},"PeriodicalIF":1.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143016549","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