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

{"title":"Liver Biopsy-Associated Diagnosis of Glycogen Storage Disease Type IV (Andersen Disease).","authors":"Ryou Ishikawa, Takeo Kondo, Sonoko Kondo, Tomohiro Kishimoto, Seiko Kagawa, Reiji Haba","doi":"10.1177/10935266261427156","DOIUrl":"10.1177/10935266261427156","url":null,"abstract":"<p><p>Glycogen storage disease type IV (Andersen disease) is caused by a deficiency of the glycogen branching enzyme. We report a case in which liver biopsy played a key role in establishing the diagnosis. A 2-year-old girl presented to our hospital with hepatomegaly. Despite extensive testing, no definitive diagnosis was made, prompting a liver biopsy. The biopsy tissue revealed characteristic cytoplasmic inclusions. Genetic analysis identified a mutation in the <i>GBE1</i> gene, confirming the diagnosis of glycogen storage disease type IV. Various special stains were helpful in characterizing the accumulated substances.</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":"599-602"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147583574","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":"Rhabdomyomatous Mesenchymal Hamartoma: Expanding the Histological Spectrum of This Rare Congenital Entity.","authors":"Ivan De La Riva, Karina Vivar, Pauline Chou, Ian Gelarden","doi":"10.1177/10935266261429300","DOIUrl":"10.1177/10935266261429300","url":null,"abstract":"<p><p>Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare, benign lesion composed of disorganized skeletal muscle and mesenchymal elements within the dermis and subcutis. It typically arises in midline locations of the head, neck, and trunk during infancy or early childhood. The full histopathologic spectrum of RMH remains incompletely characterized. We present 4 cases of RMH, including 1 with a previously unreported fibrocartilaginous component-highlighting a novel histologic finding. Clinical impressions varied, and RMH was not considered in any of the cases. This series expands the known morphologic range of RMH and emphasizes its potential to mimic other developmental lesions. Recognition of its distinct features may help avoid unnecessary interventions in pediatric patients.</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":"574-578"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147518198","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 Expression of Pontocerebellar Hypoplasia Linked to Pathogenic COASY Variants.","authors":"Cassandre Garnier, Charles Mégier, Grégoire Dumery, Ferechté Encha-Razavi, Jelena Martinovic","doi":"10.1177/10935266261434714","DOIUrl":"10.1177/10935266261434714","url":null,"abstract":"<p><strong>Introduction: </strong>Pontocerebellar hypoplasia (PCH) comprises a group of rare, perinatal-onset neurodegenerative genetic disorders characterized by reduced cerebellar and brainstem volume. Among the 17 recognized subtypes listed in the OMIM database, PCH12 is notable for its severe presentation. This subtype results from biallelic pathogenic variants in the <i>COASY</i> gene, leading to loss of function and impair coenzyme A (CoA) biosynthesis.</p><p><strong>Case report: </strong>We report 2 fetal cases from a consanguineous Pakistani couple, referred to a fetal medicine center for PCH associated with a homozygous <i>COASY</i> c.1486-3C>G pathogenic variant. The couple's first pregnancy was uneventful. However, the second and third pregnancies revealed severe cerebellar hypoplasia and additional brain anomalies on ultrasound and fetal MRI. Both pregnancies were terminated following prenatal findings, and post-fetopathological molecular testing confirmed the <i>COASY</i> variant.</p><p><strong>Discussion: </strong>These cases highlight the severe fetal phenotype of PCH12, characterized by cerebellar and brainstem hypoplasia, microcephaly, and neurodegeneration. The recurrence of this lethal condition in a consanguineous family underscores the importance of molecular diagnosis for early detection and genetic counseling. Preimplantation genetic testing for future pregnancies and cascade testing of extended family members are essential in such populations. Our antenatal report emphasizes the need for a multidisciplinary approach to the diagnosis and management of PCH12.</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":"584-591"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147795550","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":"Bilateral Glomerulocystic Kidney Disease With Extensive Embryonal Hyperplasia in a Setting of <i>HNF1B</i> Mutation.","authors":"Jacob A Havens, Benjamin C Hill, Daniel I Feig, Amy L Treece","doi":"10.1177/10935266261426188","DOIUrl":"10.1177/10935266261426188","url":null,"abstract":"<p><p>Glomerulocystic renal disease has numerous etiologies, including <i>HNF1B</i> mutations. In addition to cysts, morphologic renal findings in a setting of <i>HNF1B</i> mutations include cystic renal dysplasia, solitary functioning kidney, horseshoe kidney, and oligomeganephronia. Embryonal hyperplasia resembling nephrogenic rests has been reported in rare cases of glomerulocystic disease, but none have been genetically characterized. We report a case of bilateral glomerulocystic kidney disease (GCKD) showing extensive embryonal hyperplasia in a setting of germline <i>HNF1B</i> mutation with progressive renal failure. Explant showed numerous epithelial proliferations throughout the intervening stroma. GCKD may be seen in a setting of <i>HNF1B</i> mutation; however, the additional finding of extensive embryonal hyperplasia in a case with a known mutation has never been reported. Reports of similar embryonal hyperplasia, associated with either cystic kidney disease or other disease processes, appear to represent a heterogeneous population of presentations and etiologies, though there is sufficient evidence to suggest that this is a finding, that is, recurrently associated with cystic kidney diseases. The underlying pathobiology of embryonal hyperplasia and the neoplastic potential in this setting is unknown. We report this case to highlight a novel combination of morphologic and genetic findings in GCKD and to raise awareness of this rare finding.</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":"547-552"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147278035","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":"Comparative Analysis of Molecular Profiles of Sporadic Odontogenic Keratocyst and Bilateral Odontogenic Keratocyst: A Next Generation Sequencing Study.","authors":"Krishna Verma, Deepak Pandiar, Reshma Poothakulath Krishnan","doi":"10.1177/10935266261440595","DOIUrl":"10.1177/10935266261440595","url":null,"abstract":"<p><strong>Aim: </strong>To comparatively analyse and interpret the molecular profiles of sporadic odontogenic keratocysts (OKC) with bilateral non-syndromic odontogenic keratocysts employing next-generation sequencing (NGS).</p><p><strong>Materials and methods: </strong>All histopathologically confirmed cases were processed for 50 hotspot gene panel using NGS, followed by protein-protein analysis using the STRING Consortium 2023.</p><p><strong>Results: </strong>Except for 1 case, which was seen in the maxilla in a female patient, all included cases affected the mandible in males. In sporadic cases, a missense mutation was frequently found with either gain/ loss of function (GOF/LOF). TP53 showed a missense mutation with LOF at exon 5 and a nonsense mutation with LOF at exon 10. Other mutations were noted in the MET gene exon 19 and BRAF gene exon 11. Contrariwise, an identical mutation was seen in the left and right lesions of bilateral OKC, which was a mutation of TP53 with LOF at exon 8. Additionally OKC of the right side showed a gain-of-function (missense mutation) of the NRAS gene at exon 3.</p><p><strong>Conclusion: </strong>The TP53 gene mutation plays a significant role in the pathogenesis of OKC and supports its neoplastic nature. Bilateral OKC showed additional NRAS mutation, and sporadic cases demonstrated MET and BRAF mutations.</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":"523-529"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147731184","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":"High-Risk Histological Subtypes of Papillary Thyroid Carcinoma Predict More Aggressive Disease in Pediatric Patients.","authors":"Lauren N Parsons, Amanda May Hopp, Jason A Jarzembowski","doi":"10.1177/10935266261439744","DOIUrl":"10.1177/10935266261439744","url":null,"abstract":"<p><strong>Introduction: </strong>Papillary thyroid carcinoma (PTC) is uncommon in children compared with adults. Studies have examined the significance of histologic subtype on outcomes in adults; less is known about its importance in pediatric PTC. We sought to examine the relationship between PTC histologic subtype and clinicopathologic factors in children.</p><p><strong>Methods: </strong>The LIS was queried for pediatric PTC thyroidectomy patients between 01/2000 and 12/2023. H&E slides were assessed by 2 pathologists for PTC histologic subtypes per the 2022 WHO Classification of Endocrine and Neuroendocrine Tumors. All patterns identified in each tumor were recorded. Relevant clinicopathologic data was collected and correlated with histology using 2-tailed heteroscedastic Student-<i>t</i>-tests.</p><p><strong>Results: </strong>Forty-six pediatric PTC patients were identified during the study timeframe. 16 (34.8%) tumors showed at least focal high-risk subtype morphology. The presence of any high-risk histology in any quantity correlated with higher AJCC pT stage (<i>P</i> = .0471), high ATA Risk Classification (<i>P</i> = .049), disease recurrence (<i>P</i> = .0357), and distant metastatic disease (<i>P</i> = .0034).</p><p><strong>Conclusions: </strong>Our findings suggest that WHO-defined high-risk PTC histologic subtypes correlate with more aggressive disease in children. This correlation - observed regardless of the amount of high-risk subtype in a given tumor - suggests that these morphologic patterns may provide important prognostic insight for these children.</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":"517-522"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147795595","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":"Novel Pediatric Presentation of Pseudomyogenic Hemangioendothelioma: Diagnostic Pitfalls and Considerations of an Atypical Case.","authors":"Lydia Du, Saad Ranginwala, Ian Gelarden","doi":"10.1177/10935266261439718","DOIUrl":"10.1177/10935266261439718","url":null,"abstract":"<p><p>Pseudomyogenic hemangioendothelioma (PMH) is a rare, often multicentric neoplasm occurring primarily in soft tissue. Fewer than 50 cases of isolated bone lesions are described, with nearly all restricted to bone(s) of 1 region of the body. Two cases are described with diffuse bone involvement without soft tissue lesions, which has never been described in pediatric patients. We describe a unique case of PMH presenting as diffuse, polyostotic bone lesions in a 16-year-old. Neoplastic cells showed very weak, patchy staining for essential diagnostic stains, highlighting an important diagnostic pitfall. Additionally, the tumor showed uncharacteristic prominent histiocytic infiltrate without the usual associated neutrophils. Molecular sequencing detected <i>ACTB::FOSB</i> fusion transcript, confirming the diagnosis. This is the first described cases of diffuse, polyostotic PMH in a pediatric patient without soft tissue involvement. Furthermore, this is the first described case of histocyte-rich PMH. Overall, the case illustrates several unique features and diagnostic pitfalls important for pediatric pathologists to recognize in PMH. A high index of suspicion is necessary to perform the appropriate targeted molecular testing that might be needed to confirm the diagnosis.</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":"592-598"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147795650","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":"Case Report of Concomitant Pleuropulmonary Blastoma and Hepatoblastoma in a 25-Month-Old Child With a Germline <i>DICER1</i> Pathogenic Variant.","authors":"Diep Hong Pho, Thach Ngoc Hoang, Lan Ngoc Bui, Ngoc Thi Kim Le, Jian Yuan Goh, Kenneth Tou En Chang","doi":"10.1177/10935266251413978","DOIUrl":"10.1177/10935266251413978","url":null,"abstract":"<p><p>Pleuropulmonary blastoma and hepatoblastoma are 2 well-recognized embryonal tumors of the thorax and liver respectively occurring in children. The simultaneous presentation of 2 or more pediatric embryonal tumors in the same patient is extremely rare. Specifically, cases of concomitant pleuropulmonary blastoma and hepatoblastoma in the same patient are extremely rare with only a single clinical case report published thus far. We report a case of a 25-month-old boy presenting with concomitant pleuropulmonary blastoma and hepatoblastoma, and describe the clinical, imaging, and histopathological findings. We additionally describe the underlying <i>DICER1</i> alterations in both tumors. This is the first case described in Vietnam and only the second such case reported globally.</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":"541-546"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146021126","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":"Upper Gastrointestinal Biopsy Findings in Pediatric Inflammatory Bowel Disease: Histologic and Clinicopathologic Correlations.","authors":"Melek Büyük, Neslihan Berker, Sidar Bağbudar, Doğu Vurallı Bakkaloğlu, Zerrin Önal, Özlem Durmaz, Mine Güllüoğlu","doi":"10.1177/10935266261431388","DOIUrl":"10.1177/10935266261431388","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to evaluate histologic findings in upper gastrointestinal (UGI) biopsies of pediatric inflammatory bowel disease (IBD) patients, their correlation with endoscopic features, and association with disease activity.</p><p><strong>Methods: </strong>UGI biopsies from 50 pediatric IBD patients (31 Crohn's disease [CD] and 19 ulcerative colitis [UC]) were retrospectively reviewed. Esophageal, gastric, and duodenal samples were categorized as highly suggestive, suspicious, or unlikely for UGI involvement. Associations with endoscopic abnormalities, colonoscopic disease extent, and simplified Geboes scores were analyzed.</p><p><strong>Results: </strong>Highly suggestive findings were most common in the antrum (60%), followed by the corpus (26%), esophagus (24%), and duodenum (20%). Focal enhanced gastritis (FEG) was the leading feature and appeared more frequently in UC than CD, though without statistical significance. <i>H. pylori</i>-negative active chronic gastritis, distinct from FEG, was identified and classified as suspicious for involvement. Duodenal findings including cryptitis, crypt abscesses, crypt distortion, villous blunting, and foveolar metaplasia may reflect IBD-related changes rather than nonspecific inflammation and were more frequent in UC, but not significantly. Highly suggestive findings in the esophagus and duodenum correlated with endoscopic abnormalities, whereas gastric findings did not. In contrast, highly suggestive antral and corpus findings were associated with higher simplified Geboes scores.</p><p><strong>Conclusions: </strong>UGI involvement in pediatric IBD is easily overlooked and requires careful assessment. Integrating histologic, clinical, and endoscopic findings is essential, as characteristic UGI features may influence disease evaluation and therapeutic decision making.</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":"501-510"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13558800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147795691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retropharyngeal Ectopic Thyroid Found Histologically in Late-Term Fetuses: A Case Report With an Embryological Study.","authors":"Yun-Feng Liu, Zhe-Wu Jin, Feng Han, Yiping Zhang, Gen Murakami, Ji Hyun Kim, Ai Hirano-Kawamoto","doi":"10.1177/10935266261426678","DOIUrl":"10.1177/10935266261426678","url":null,"abstract":"<p><strong>Objective: </strong>To identify a pathogenesis of retropharyngeal ectopic thyroid (ET) independent of the thyroglossal duct-derived usual ET.</p><p><strong>Methods: </strong>We incidentally found a unilateral retropharyngeal ET in histological sections of a fetus at 28 weeks of gestational age (GA). The other histological sections from 21 embryos and fetuses (GA 5-8 weeks and 14-18 weeks) were examined to consider the pathogenesis.</p><p><strong>Results: </strong>The retropharyngeal ET existed with the usual thyroid and it contained loosely distributed clusters of follicles without capsule. In the other 21 specimens, we found 3 candidates of the pre-laryngeal ET and they contained tightly packed follicles with a thick capsule. Thus, the retropharyngeal ET was most likely different from the pre-laryngeal ET in structure. At 6 to 7 weeks of GA, the developing thyroid was composed of abundant trabeculae. Notably, at their posterior ends, some trabeculae were adjacent to the hypoglossal nerve as well as the nodosa ganglion of the vagus nerve.</p><p><strong>Conclusion: </strong>During ascent of the hypoglossal nerve and nodosa ganglion, the trabecular thyroid seemed to descend along the anterior aspect of these nerve elements. Therefore, the nerve(s) might swipe and cut a trabecula to separate the fragment from the main lobes, resulting in the retropharyngeal ET.</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":"553-560"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147597760","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}