Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society最新文献

{"title":"The Hepatic Histomorphology and Application of Ensemble Transfer Learning in Convolutional Neural Network Models in the Biopsies of Hepatic Langerhans Cell Histiocytosis.","authors":"Dipanwita Biswas, Suvradeep Mitra, Raghav Lal, Alisha Babbar, Chennakeshava Thunga, Deepak Bansal, Nandita Kakkar, Sadhna Lal, Pranab Dey","doi":"10.1177/10935266261456403","DOIUrl":"https://doi.org/10.1177/10935266261456403","url":null,"abstract":"<p><strong>Background and aims: </strong>Langerhans cell histiocytosis (LCH) commonly affects children. The histological distinction of hepatic LCH from its mimickers is challenging and often requires judicious use of immunohistochemistry in the correct clinical and radiological context. We described the patterns of hepatic LCH and applied an ensemble transfer-learning model to predict and distinguish hepatic Langerhans cell infiltration from histological mimics.</p><p><strong>Materials and methods: </strong>Clinical, histological, and immunophenotypic data from 6 pediatric LCH cases with liver biopsies were retrieved from the archives. The histological patterns were reviewed. Histological images were obtained from all cases of hepatic LCH with histologically overt Langerhans cell infiltration, as well as from cases with histological mimickers. A soft-voting-based ensemble transfer learning model was applied to the images after splitting them into training, validation, and test sets. The performance metrics were evaluated.</p><p><strong>Results: </strong>All cases were multisystem LCH (MS-LCH). The hepatic histomorphology showed sclerosing cholangiopathy with/without Langerhans cell infiltration as the most common pattern. Bile extravasation and cystic dilatation were noted in a single case. Eosinophilic microabscesses, cholangiopathy, and portal-based aggregates are the important histological clues. The ensemble learning model had an area under the curve (receiver operating characteristic) of 0.99, with sensitivities, specificities, and accuracies of 33.3%, 100%, and 75%, respectively.</p><p><strong>Conclusion: </strong>Sclerosing cholangiopathy with or without Langerhans cells is the most common pattern of hepatic LCH. An ensemble transfer learning model can serve as a valuable screening tool for histopathologists to predict and diagnose hepatic LCH.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261456403"},"PeriodicalIF":1.3,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148261313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Drug Induced Liver Injury in Children: Practical Considerations for Pathologists.","authors":"Kalyani R Patel, Juan Putra","doi":"10.1177/10935266261458421","DOIUrl":"https://doi.org/10.1177/10935266261458421","url":null,"abstract":"<p><p>Drug-induced liver injury (DILI) in children remains a diagnostic challenge due to its broad clinical and histologic spectrum. Based on pathogenesis, DILI is classified as idiosyncratic, intrinsic (direct), or indirect. In the United States, antimicrobials and antiepileptic medications are the most commonly implicated agents. Because histologic features are often nonspecific, diagnosis and assessment of causality rely on clinicopathologic correlation. Although not always required, liver biopsy can aid in characterizing injury patterns, assessing severity, and excluding mimickers. This review highlights the major morphologic patterns of pediatric DILI, associated agents, and practical considerations for biopsy interpretation in routine practice.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261458421"},"PeriodicalIF":1.3,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148207645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Childhood-Onset Desmin-Related Cardiomyopathy: Comprehensive Clinical, Histopathological, Immunohistochemical, Ultrastructural, and Molecular Characterization.","authors":"Chrystalle Katte Carreon, Stephen P Sanders, Elizabeth D Blume, Leslie Smoot, Antonio R Perez-Atayde","doi":"10.1177/10935266261447326","DOIUrl":"https://doi.org/10.1177/10935266261447326","url":null,"abstract":"<p><strong>Background: </strong>Desmin-related cardiomyopathy is a rare disorder caused by pathogenic variants in desmin and associated protein genes. We aimed to describe the clinical, histopathological, immunohistochemical, ultrastructural, and molecular features in a pediatric cohort.</p><p><strong>Methods: </strong>This retrospective descriptive study reviewed pediatric cases diagnosed over a 30-year period. Clinical data were extracted from electronic medical records. Archived histologic slides (H&E, desmin immunostains, and special stains) and electron photomicrographs were re-evaluated. Key features were documented and summarized.</p><p><strong>Results: </strong>Four pediatric patients (3 males and 1 female) presented between ages 2 and 14 years with restrictive cardiomyopathy and conduction abnormalities. Endomyocardial biopsies and/or explanted heart specimens showed eosinophilic cytoplasmic inclusions that were desmin-immunoreactive, PAS-negative, and highlighted by toluidine blue. Electron microscopy revealed dense cytoplasmic granulofilamentous aggregates that were frequently continuous with the sarcoplasmic membrane, Z-bands, and intercalated discs. Two patients harbored the same pathogenic variant: DES c.1360T>C (p.Arg454Trp).</p><p><strong>Conclusion: </strong>Desmin-related cardiomyopathy should be considered in any child presenting with restrictive cardiomyopathy and/or rhythm disturbances. Distinctive light microscopic and ultrastructural features can aid in confirming the diagnosis. Certain pathogenic variants are increasingly linked to more severe phenotypes, highlighting the importance of genetic evaluation and its implications for family counseling.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261447326"},"PeriodicalIF":1.3,"publicationDate":"2026-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148160402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Percc1-Associated Congenital Diarrhea and Enteropathy: Description of a Novel Variant.","authors":"Bilge S Akkelle, Emine Celik, Esra Dirimtekin, İbrahim Bagci, Ahsen Donmez Turkmen, Cigdem Celikel, Deniz Ertem","doi":"10.1177/10935266261450257","DOIUrl":"https://doi.org/10.1177/10935266261450257","url":null,"abstract":"<p><p>Persistent diarrhea that occurs in the first weeks of life and is caused by monogenic defects are defined as congenital diarrhea and enteropathies (CoDEs). The PERCC1 (proline and glutamate-rich protein with coiled-coil domain 1) gene which has a role in development of enteroendocrine cells, was recently found to be associated with CoDEs. We report the clinical, laboratory, and histopathologic findings of CoDE caused by a novel, homozygous variant (c.337 del) in the second exon of PERCC1 gene in an infant diagnosed at 2 months postnatally. The unique findings in our case were the location and/or distribution abnormality of enteroendocrine cells and exocrine pancreatic insufficiency. We can conclude that these distinctive features may expand the spectrum of PERCC1-associated CoDE.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261450257"},"PeriodicalIF":1.3,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148102177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes.","authors":"Rachel Guest, John Van Arnam, Darryl Kinnear, Fouad El-Dana, Kelsey Hummel, Anthea Lafreniere, Eumenia Castro, Melissa Blessing","doi":"10.1177/10935266261449073","DOIUrl":"10.1177/10935266261449073","url":null,"abstract":"<p><p>DICER1 syndrome is a rare autosomal dominant cancer predisposition syndrome caused by germline mutations in the <i>DICER1</i> gene and several associated benign and malignant entities. This case describes a premature 8-day old neonate prenatally diagnosed with renal and cystic lung abnormalities who died from severe respiratory dysfunction. Autopsy additionally revealed ETMR and genitourinary abnormalities, leading to the diagnosis of probable DICER1 syndrome. While the family declined postmortem genetic testing, detailed postmortem examination led to important diagnoses capable of guiding clinical follow-up and future family planning.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261449073"},"PeriodicalIF":1.3,"publicationDate":"2026-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148102170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Atrophic Dermatofibrosarcoma Protuberans With Rapid Nodular Transformation in an Infant: A Case Report.","authors":"Chen Sun, Jiafen Zhang, Xiao Yang","doi":"10.1177/10935266261453479","DOIUrl":"https://doi.org/10.1177/10935266261453479","url":null,"abstract":"<p><p>Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue sarcoma with a high risk of local recurrence, of which the congenital atrophic variant is exceptionally rare and prone to misdiagnosis. We report a case of a 10-month-old male infant with a rapidly enlarging, tender nodule arising within a congenital atrophic plaque on the left lower leg, which histopathologically demonstrated a CD34-positive spindle cell tumor featuring storiform architecture and deep honeycomb infiltration. Notably, fluorescence in situ hybridization (FISH) analysis revealed no evidence of the characteristic <i>PDGFB</i> gene rearrangement, consistent with a molecularly unconfirmed DFSP. This case highlights the critical importance of including DFSP in the differential diagnosis of progressive congenital plaques, supports the biphasic growth model, and underscores the necessity of integrating histopathology with advanced molecular techniques for accurate diagnosis and management, even in the absence of classic molecular markers.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261453479"},"PeriodicalIF":1.3,"publicationDate":"2026-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148059383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thyroid Myofibroma in a Child With Turner Syndrome: Integrated Cytologic, Histopathologic, and Molecular Characterization.","authors":"Irena Manukyan, Christopher T Rossi, Priya Vaidyanathan, Pamela A Mudd, Sam Sirotnikov","doi":"10.1177/10935266261452369","DOIUrl":"https://doi.org/10.1177/10935266261452369","url":null,"abstract":"<p><p>Most thyroid nodules encountered in clinical endocrinology are epithelial in origin. In contrast, primary thyroid mesenchymal tumors are exceedingly rare but increasingly recognized with advances in immunohistochemistry and molecular diagnostics. Thyroid myofibroma is an exceptionally uncommon benign fibroblastic-myofibroblastic neoplasm, with only a limited number of cases reported to date. We report a 9-year-old girl with Turner syndrome (TS) and a prior myofibroblastic proliferation of the parotid gland 5 years earlier, who presented with a solitary thyroid nodule. Fine-needle aspiration (FNA) demonstrated a spindle-cell proliferation suspicious for an extrafollicular process. Lobectomy revealed a well-circumscribed, unencapsulated spindle-cell tumor composed of bland myofibroblastic cells arranged in fascicles within a collagenous stroma. The immunophenotype supported myofibroma. Targeted molecular testing identified a pathogenic <i>PDGFRB</i> variant and a novel variant of uncertain significance, confirming the diagnosis. No prior reports have described thyroid myofibroma associated with TS or a preceding salivary gland myofibromatous lesion, making this case unique and diagnostically and pathogenetically significant. Awareness of this entity is critical to avoid misclassification as other spindle-cell thyroid lesions on FNA. Integrated cytomorphology, immunophenotyping, and PDGFRB-focused molecular analysis provide a robust diagnostic approach and may offer insight into shared pathogenetic mechanisms linking TS and myofibroblastic proliferations.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261452369"},"PeriodicalIF":1.3,"publicationDate":"2026-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148059419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fetal/Perinatal Lethal Gaucher Disease: A Case Series.","authors":"Anastasia E Konstantinidou, Ioannis Ketsekioulafis, Lina Florentin","doi":"10.1177/10935266261450254","DOIUrl":"https://doi.org/10.1177/10935266261450254","url":null,"abstract":"<p><p>Gaucher disease is a rare lysosomal storage disease caused by mutations in the GBA gene, resulting in the accumulation of glucosylceramides in macrophages. The perinatal/lethal form, also including fetal Gaucher disease, is a distinct and severe variant, usually presenting with non-immune hydrops fetalis, hepatosplenomegaly, ichthyosiform changes, and typical \"Gaucher cells\" seen on histology in various organs. Four cases of fetal/perinatal Gaucher disease are presented, 1 genetically confirmed and 3 histologically diagnosed, with a description of the prenatal findings and the pathological features at autopsy. In all 4 cases, hydrops was detected prenatally after the 24th week of gestation, leading to termination of pregnancy. Hepatosplenomegaly was confirmed at autopsy in 3 cases. Dysmorphic features included thick lips and eclabium, upturned nose, thick antitragus, and micropenis in the 2 male fetuses. Histologically, characteristic Gaucher cells were found in multiple organs, while in 2 cases brain involvement was reported. In conclusion, fetal Gaucher disease shows distinct pathological characteristics. Some facial features and micropenis are highlighted for the first time, whereas ichthyosiform body skin changes described in neonates and infants are not typically seen in the fetus. Brain involvement is variable. Further reporting of genotype-phenotype correlations is necessary in cases of fetal/perinatal Gaucher disease.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261450254"},"PeriodicalIF":1.3,"publicationDate":"2026-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147985091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disseminated MRSA and Myelokathexis Preceding AML with t(8;21) and ASXL1 Mutation.","authors":"Aditi Tulsiyan, Sudipto Bhattacharya, Nita Radhakrishnan, Hari Gaire, Anuj Singh, Neema Tiwari","doi":"10.1177/10935266261450247","DOIUrl":"https://doi.org/10.1177/10935266261450247","url":null,"abstract":"<p><p>Pediatric acute myeloid leukemia (AML) is heterogeneous, and molecular genetics strongly influence prognosis. Although t(8;21) AML is considered favorable, additional mutations such as ASXL1 can worsen outcomes. We report a 13-year-old boy with 2 months of fever, pancytopenia, and disseminated MRSA abscesses. Bone marrow showed myelokathexis but no blasts. Immunological evaluation excluded WHIM syndrome and inborn errors of immunity. After infection control and transient hematologic recovery, the child relapsed with recurrent fever and cytopenia. Peripheral smear revealed 85% myeloblasts; bone marrow confirmed AML with t(8;21), monosomy Y, del(9q), and ASXL1 mutation. He achieved remission with cytarabine-based induction and consolidation, but hematopoietic stem cell transplantation (HSCT) was declined. This case illustrates the diagnostic challenge of prolonged cytopenia and infection preceding AML. Myelokathexis suggested immune dysfunction but ultimately represented an early clonal abnormality. Although t(8;21) is favorable, ASXL1 mutation confers high-risk biology, supporting HSCT in first remission. Children with unexplained cytopenia require vigilant monitoring and genomic profiling. Integration of molecular risk factors should guide individualized treatment strategies.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261450247"},"PeriodicalIF":1.3,"publicationDate":"2026-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147985088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eosinophilic Myenteric Ganglionitis in a Newborn: Case Report.","authors":"Luz F Sua, María Del Mar Conde, Juan Carlos Bravo, Liliana Fernández-Trujillo","doi":"10.1177/10935266261446768","DOIUrl":"https://doi.org/10.1177/10935266261446768","url":null,"abstract":"<p><p>Eosinophilic myenteric ganglionitis is a rare cause of pseudo-obstructive intestinal syndrome, predominantly reported in children. It is characterized by symptoms that mimic mechanical intestinal obstruction, despite the absence of a demonstrable lesion, and is identified histologically by an eosinophilic myenteric inflammatory process. We report the case of a male newborn presenting with intestinal obstruction found to have intestinal malrotation and histological evidence of colonic wall ganglion cells surrounded by a moderate eosinophilic infiltrate. The patient underwent surgical correction with a protective diverting ileostomy, resulting in progressive clinical improvement. At 18 months of age, follow-up with a contrast enema revealed persistent old contrast medium in the dysfunctional sigmoid rectum, suggesting possible rectal motility impairment. This is the first reported case in the literature of a newborn with intestinal malrotation in the presence of eosinophilic myenteric ganglionitis. The need for comprehensive intestinal wall biopsy for accurate diagnosis is emphasized, highlighting the importance of early diagnosis for proper management and complication prevention. This case underscores the necessity for further research to enhance understanding, diagnosis, and treatment of eosinophilic myenteric ganglionitis.</p>","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"10935266261446768"},"PeriodicalIF":1.3,"publicationDate":"2026-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147978609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}