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

{"title":"Limb Body Wall Complex: Report of a Discordant Case in a Monozygotic Twin Pregnancy.","authors":"Justine Formet, Lofo Andrianarison, Herve Sartelet, Christophe Nemos","doi":"10.1177/10935266261492979","DOIUrl":"https://doi.org/10.1177/10935266261492979","url":null,"abstract":"<p><p>Limb Body Wall Complex (LBWC) is a rare, severe congenital malformation syndrome characterized by thoracoabdominal wall defects, craniofacial anomalies, and limb and spinal malformations. Its incidence ranges from 0.04 to 3.3 per 10,000 births. We present a case of LBWC diagnosed in a monochorionic diamniotic twin pregnancy at 17 weeks of gestation. The mother was 28-year-old, primigravida, and had no notable medical history. Ultrasound identified abnormal positioning of 1 embryo, suggestive of adherence to the amnion. First-trimester scans revealed increased nuchal translucency and foot malposition in fetus A, while fetus B showed a cystic hygroma along with significant abdominal wall and spinal anomalies. Selective termination of fetus B was performed at 17 weeks but was complicated by the intrauterine demise of both fetuses. Postmortem examination of fetus B confirmed classical LBWC features: abdominopelvic wall defect with evisceration adherent to the placenta, lower limb amyotrophy, severe kyphoscoliosis, and craniofacial abnormalities. The pathogenesis of LBWC remains unclear, with hypotheses including early amnion rupture, vascular disruptions, and embryonic developmental errors. Diagnosis is typically made by prenatal ultrasound in the first trimester. LBWC is generally lethal, warranting pregnancy termination. While multiple pregnancies may increase the risk, discordant presentation in monochorionic twins remains exceptionally rare.</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":"10935266261492979"},"PeriodicalIF":1.3,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149187344","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":"Severe Transient Abnormal Myelopoiesis: A Report of 2 Cases.","authors":"Meiline Troeung, Shahzaib Saleem, Vivekanand Singh","doi":"10.1177/10935266261487766","DOIUrl":"https://doi.org/10.1177/10935266261487766","url":null,"abstract":"<p><p>Transient abnormal myelopoiesis (TAM) occurring in infants with trisomy 21 self-resolves in >90% of cases. In a few infants, there is extensive myeloid proliferation which leads to life threatening symptoms and occasionally fatal outcome. The clinical features of such \"high risk\" infants have been described, but the diagnosis of \"severe\" or \"high risk\" TAM remains underutilized, and their pathologic findings are not widely reported. In this report we describe 2 cases of severe TAM that led to an early demise of these infants and discuss the histological and immunophenotypic findings, as well as the value of designating TAM as severe if the clinical scenario is appropriate. The findings of hepatomegaly, hyperleukocytosis, and liver dysfunction commonly reported in severe TAM were also present in the 2 infants. Dysplastic megakaryocytes typically seen in Down syndrome-Myeloid leukemia were frequently noted in liver infiltrates.</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":"10935266261487766"},"PeriodicalIF":1.3,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148922554","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 Craniopharyngioma: A Rare Prenatal Diagnosis.","authors":"Camille Reyl, Grégoire Dumery, Pascale Varlet, Férechté Encha-Razavi, Jelena Martinovic","doi":"10.1177/10935266261479810","DOIUrl":"https://doi.org/10.1177/10935266261479810","url":null,"abstract":"<p><p>Adamantinomatous craniopharyngioma (ACP) is a benign epithelial tumor classically diagnosed in childhood and only exceptionally during fetal life. We report a case of prenatally diagnosed ACP at 30 weeks of gestation (WG). Routine third-trimester ultrasound (US) revealed a midline suprasellar brain mass with mixed, solid, and cystic components with calcifications. Fetal MRI confirmed the initial findings, suggesting the differential diagnosis of either teratoma or craniopharyngioma. The parents opted for a medical termination of pregnancy, performed under the current French ethics law at 31WG. Fetopathological examination demonstrated an isolated suprasellar tumor. Histopathology was consistent with the diagnosis of adamantinomatous craniopharyngioma. Including the present contribution, fewer than 20 prenatal diagnoses of craniopharyngioma have been reported so far. Notably, all fetal cases correspond to the adamantinomatous subtype and share similar radiological and histological features. This observation enhances the concept that the full morphological phenotype of ACP is already established during fetal life. Despite its benign nature, ACP may lead to severe long-term visual, endocrine, and neurodevelopmental morbidity. This case contributes to the better understanding of fetal ACP and highlights the importance of accurate prenatal diagnosis and fetopathological examination for establishing its 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":"10935266261479810"},"PeriodicalIF":1.3,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914672","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":"Blastemal-Predominant Primary Extrarenal Nephroblastoma Associated with Lumbosacral Lipomeningocele in an Infant: A Case Report and Focused Review.","authors":"Efe Yetişgin, Muhammed Erkan Emrahoğlu, Şükriye Yılmaz, Şule Yeşil, Evrim Önder","doi":"10.1177/10935266261485154","DOIUrl":"https://doi.org/10.1177/10935266261485154","url":null,"abstract":"<p><p>Primary extrarenal nephroblastoma, or extrarenal Wilms tumor, is an exceptionally rare embryonal tumor outside the kidney. Spinal/lumbosacral involvement is particularly uncommon and may mimic congenital dysraphic lesions. We report a 10-month-old female infant followed since birth for presumed sacral lipoma and operated on for suspected meningomyelocele/lipomeningocele. Imaging demonstrated a solid S1 to S3 lesion adjacent to a thin lipomatous lesion near the conus medullaris. Histopathology unexpectedly showed a blastemal-predominant triphasic nephroblastoma with epithelial differentiation and limited stromal component. Tumor cells were diffusely positive for nuclear WT1 and PAX8. Normal bilateral kidneys, absence of teratomatous component, and negative metastatic work-up supported primary localized extrarenal disease. Complete excision was followed by vincristine/actinomycin-D-based chemotherapy; 6-month imaging showed no residual or recurrent lesion.</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":"10935266261485154"},"PeriodicalIF":1.3,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148893255","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":"Pitfalls in Pediatric Supratentorial ZFTA Fusion-Positive Ependymoma: A Clinicopathological Study of 17 Cases.","authors":"Lian Yang, Lusheng Li, Bin Zou, Jingxian Wu, Yanghao Hou, Jin Zhu","doi":"10.1177/10935266261484282","DOIUrl":"https://doi.org/10.1177/10935266261484282","url":null,"abstract":"<p><strong>Aims: </strong>Supratentorial ependymoma with ZFTA fusion represents a molecularly defined entity with characteristic but heterogeneous histopathological features. In routine diagnostic practice, morphologic diversity and limitations of individual molecular assays may lead to diagnostic uncertainty. This study aimed to systematically characterize the clinicopathological spectrum of pediatric supratentorial ZFTA fusion-positive ependymomas and to highlight potential diagnostic pitfalls.</p><p><strong>Methods: </strong>Seventeen pediatric cases with confirmed ZFTA fusion were retrospectively analyzed. Clinical, radiological, histopathological, immunohistochemical (including L1CAM, p65/RELA, etc.), and molecular findings (FISH, NGS, DNA methylation profiling), along with follow-up data, were evaluated.</p><p><strong>Results: </strong>The median patient age was 7 years (range, 1-14 years). Non-classical morphologic patterns (embryonal-like, sieve-like, ependymoblastic-like) occurred in 8/17 cases (47.1%), mostly in WHO grade 3 tumors. Crucially, all 8 cases retained focal conventional ependymal features upon thorough sampling and maintained diffuse L1CAM positivity, nuclear p65/RELA, and dot-like EMA positivity in deceptive areas. Molecularly, FISH yielded a 28.6% (4/14) false-negative rate in high-grade cases, and NGS showed 1 false-negative result (7.1%), rescued by DNA methylation profiling. Overall median follow-up was 48 months (range, 6-68). WHO grade 2 tumors had zero recurrence (median follow-up, 60 months), whereas WHO grade 3 tumors showed median time to recurrence of 6 months (range, 3-12).</p><p><strong>Conclusions: </strong>Pediatric ZFTA fusion-positive ependymomas exhibit morphologic divergence and false-negative molecular risks. Extensive tissue sampling, integrated IHC surrogate panels (p65/L1CAM/GFAP/EMA), and complementary molecular platforms are essential for accurate 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":"10935266261484282"},"PeriodicalIF":1.3,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148877226","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":"Omphalocele with Patent Omphalomesenteric Duct and Intestinal Prolapse in a Preterm Neonate: Histopathological Evidence of Incomplete Vitelline Duct Involution.","authors":"Sabri Cansaran, Gülbin Yazgan, Ayşenur Celayir","doi":"10.1177/10935266261484295","DOIUrl":"https://doi.org/10.1177/10935266261484295","url":null,"abstract":"<p><p>Patent omphalomesenteric duct (OMD) with intestinal prolapse coexisting with omphalocele is an exceptional ventral folding anomaly that may be misdiagnosed as gastroschisis. The vitellointestinal duct normally involutes between the seventh and ninth gestational weeks; failure of obliteration produces a spectrum of anomalies including Meckel diverticulum, fibrous bands, umbilico-ileal fistulae, or, rarely, a fully patent duct with bowel prolapse. Fewer than 15 cases of the combined anomaly have been reported since 1967. We describe a preterm neonate (32 + 4 weeks, 2160 g) with an intact omphalocele sac and a separate, widely patent OMD through which both the proximal and distal limbs of the terminal ileum had prolapsed. Histopathological examination of the resected sac and OMD-bearing ileal segment demonstrated the umbilical cutaneous transition with vitelline-derived vascular remnants, preserved intestinal architecture with intact myenteric ganglion cells, and no heterotopic gastric or pancreatic mucosa. These findings indicate persistence of a fully patent vitellointestinal duct at the morphologically simple end of the vitelline duct anomaly spectrum, supporting a developmental rather than an acquired origin. The case illustrates the diagnostic pitfall of misidentification as gastroschisis and the value of clinicopathological correlation in establishing the developmental basis of this rare anomaly.</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":"10935266261484295"},"PeriodicalIF":1.3,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148877178","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":"Bone Marrow Morphology in Hereditary Thrombocytosis May Show Features of Myeloproliferative Neoplasms: A Case Report of a Child with Homozygous <i>MPL</i> Baltimore Germline Variant and Review of Literature.","authors":"Roopa Kodimyala, Kristina Brannock, Amanda Campbell, Kristin Zajo, Melissa J Rose, Benjamin Kaumeyer","doi":"10.1177/10935266261430468","DOIUrl":"10.1177/10935266261430468","url":null,"abstract":"<p><p>Hereditary thrombocytosis (HT) is a rare cause of elevated platelet counts in children, most commonly resulting from germline variants in <i>THPO</i> or <i>MPL</i>. We report the first description of bone marrow morphology in a pediatric patient with germline homozygous <i>MPL</i> Baltimore (K39N) variant, a functional polymorphism resulting in HT. The patient had persistent thrombocytosis from infancy without bleeding or thrombotic complications. Bone marrow biopsy demonstrated mild hypocellularity, increased megakaryocytes forming small clusters, and megakaryocytic atypia partially overlapping with the morphologic features of myeloproliferative neoplasms (MPN). However, a somatic cytogenetic or molecular abnormality was not identified and it was determined that the thrombocytosis and bone marrow morphology were driven by the homozygous germline MPL Baltimore variant. Literature review found reports of bone marrow morphology in HT showing varying degrees of megakaryocytic proliferation and atypia with differences seen between specific germline variants. Cases with germline <i>MPL</i> P106L variant have similar morphology as this homozygous <i>MPL</i> Baltimore case. While cases of germline <i>MPL</i> S550N are nearly identical to MPN with more severe megakaryocytic atypia and frequent development of marrow fibrosis. This case underscores the importance of considering HT in children with unexplained thrombocytosis and highlights the diagnostic pitfall of misclassifying HT as MPN.</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":"579-583"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494645","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":"Standardized Placental Pathology Reporting: Improving Quality and Clinical Utility Recommendations From the Society for Pediatric Pathology Placental Pathology Reporting Task Force.","authors":"Sanjita Ravishankar, Francois Cady, Chrystalle Katte Carreon, Eumenia Castro, Virginia E Duncan, Philip J Katzman, Drucilla J Roberts, Karen K Mestan, Cynthia Gyamfi-Bannerman, Heather Florescue, Lindsey Wimmer, Alicia A Loehlein, Mana Parast","doi":"10.1177/10935266261444440","DOIUrl":"10.1177/10935266261444440","url":null,"abstract":"<p><strong>Background: </strong>Placental pathology has benefited greatly from the standardization of definitions provided by the Amsterdam consensus, however the quality of placental pathology reporting continues to suffer from a lack of unified and practical reporting standards and difficulty in applying the Amsterdam definitions to general clinical practice.</p><p><strong>Methods: </strong>A multidisciplinary Placental Pathology Reporting Task Force was formed to develop a standardized placental pathology reporting template based on a combination of evidence-based literature review and consensus expert opinion, and designed to complement the Amsterdam definitions. The goal of the task force was to create a practical, succinct, clinically informative, and easily customizable template that can be adapted to varying institutional preferences.</p><p><strong>Results: </strong>The proposed standardized reporting template encompasses a wide breadth of common placental pathologic diagnoses and provides recommended diagnostic terminology, explanatory comments and practical tips, and notes to ease the application of definitions. Input from pathologists from different practice settings, obstetric providers, neonatologists, and patient advocates was integrated.</p><p><strong>Conclusions: </strong>The introduction of a standardized placental reporting template holds the potential to reform and advance placental pathology practice across the diverse range of settings in which it is currently performed. The proposed template is adaptable, allowing pathologists to include additional information beyond the recommended standard as needed/preferred. Widespread adoption of this framework will enhance the clinical utility and value of placental pathology reports by clinicians and patients, ultimately supporting more informed and appropriate management of neonates and future pregnancies.</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":"479-492"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13558814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944653","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":"Increased Placental Calcifications in Fetal Skeletal Dysplasias.","authors":"Katelyn E Moss, Heather L Keir, Theonia K Boyd, Sukru Aras, Shreya Nair, Charlotte F Kim","doi":"10.1177/10935266261441712","DOIUrl":"10.1177/10935266261441712","url":null,"abstract":"<p><strong>Background: </strong>Placental calcifications are common and often associated with post-term placentas and maternal vascular disorders. However, their significance in specific fetal disease contexts remains poorly understood. Anecdotally, placentas belonging to fetuses with skeletal dysplasias (SD) often demonstrate increased placental calcifications. Our aim was to systematically evaluate calcification patterns in SD placentas.</p><p><strong>Methods: </strong>Retrospective case-control study of molecularly confirmed SD placentas (2016-2025) and controls. One perinatal pathologist reviewed gross features and performed histologic evaluation of cases and controls. Placental calcifications were scored using a unique calcification scoring system.</p><p><strong>Results: </strong>SD cases had a higher total calcification score than controls (<i>P</i> < .001). SD cases were more likely to have larger calcification patterns (<i>P</i> = .013) as well as a higher grade of calcifications (<i>P</i> = .001). Calcification scores were also statistically significantly higher for both the <30 weeks gestational age (GA) group (<i>P</i> = .002) and the >36 weeks GA group (<i>P</i> = .013).</p><p><strong>Conclusion: </strong>Increased placental calcifications were seen in cases of fetal SD across GAs. While SD calcifications tended to be smaller at earlier GAs, they were higher in frequency compared to controls. Although some calcifications can be attributed to placental aging, the term SD cases showed significantly increased scores in comparison.</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":"530-540"},"PeriodicalIF":1.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148039292","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":"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}