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

{"title":"SOX2 Expression and Regulation in Pulmonary Aplasia/Agenesis.","authors":"Alexia Apostolou, Madeleine Joubert, Brice Poreau, Christian Piolat, Francine Arbez Gindre, Christophe Nemos, Herve Sartelet","doi":"10.1177/10935266251349491","DOIUrl":"10.1177/10935266251349491","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary agenesis is characterized by the absence of bronchi and lung parenchyma and it differs from pulmonary aplasia by the presence of rudimentary bronchial buds. SOX2 expression is observed during the normal course of lung development. The objective of this study is to investigate the expression of SOX2 and its regulation in the residual airway epithelium of pulmonary agenesis/aplasia.</p><p><strong>Methods: </strong>Six cases of pulmonary agenesis/aplasia aged between 12 and 37 weeks of gestation and 6 age-matched controls were studied. Immunochemistry was performed using primary antibodies against SOX2, BMP4, FGF9, FGF10, TTF1, SHH, and beta-catenin.</p><p><strong>Results: </strong>In sections of bronchi or trachea from lung agenesis or aplasia, the residual epithelium shows a high nuclear expression of SOX2 and an absence of expression of BMP4 as in the esophagus whereas in control cases, the airway epithelium shows an absence of expression of SOX2 and a high expression of BMP4. There were no differences between control and agenesis/aplasia cases concerning the expression of FGF9, FGF10, SHH, TTF1, and beta-catenin.</p><p><strong>Conclusion: </strong>The expression of SOX2 and BMP4 is strongly altered in pulmonary agenesis/aplasia. Thus, these proteins appear to regulate tissue-specific proliferative activity during early lung development.</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":"10935266251349491"},"PeriodicalIF":0.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144319202","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":"Placental Pathology Reporting Practices in Australian Stillbirths: A Quality Review.","authors":"Tania Marsden, Teck Yee Khong, Jane E Dahlstrom, Fran Boyle, Mu Cheng, Yin Ping Wong, Stacey Prystupa, Gretchen Pomare, Joanna Perry-Keene, Vicki Flenady, Jessica Sexton","doi":"10.1177/10935266251349492","DOIUrl":"https://doi.org/10.1177/10935266251349492","url":null,"abstract":"<p><strong>Background: </strong>Stillbirth continues to pose a significant public health challenge. Autopsy and placental assessments are recognized as the gold standard for stillbirth investigation. The utility of these procedures can vary based on the quality of the examination. The aim of this study is to determine the quality of placenta pathology reporting in Australia in the context of a stillbirth.</p><p><strong>Materials and methods: </strong>Placenta pathology reports from stillbirths were reviewed from 18 maternity hospital from 2013 to 2018. The Khong tool was used to produce a placenta quality score (PQS), by a blinded panel of assessors to the cause of death. Outcome measures were the number of reports achieving the minimal acceptable score (MAS) of 75% or a poor score (PS) of 50% of the PQS.</p><p><strong>Results: </strong>560 placental pathology reports of which 494 were singleton and 66 were twin placentas. 282 (50%) achieved the MAS score. Macroscopic items were recorded well and microscopic items recorded poorly.</p><p><strong>Conclusions: </strong>The standard of placenta pathology reporting can be improved in Australia. The use of templates or checklists for both macroscopic descriptions and histological reporting is recommended to ensure all key components are described.</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":"10935266251349492"},"PeriodicalIF":0.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311206","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":"Primary Gastrointestinal Iatrogenic Kaposi Sarcoma: A Rare Pediatric Case Report.","authors":"Nil Urganci, Ayse Mine Onenerk Men, Nuray Kepil, Rahsan Ozcan, Nil Comunoglu","doi":"10.1177/10935266251345690","DOIUrl":"https://doi.org/10.1177/10935266251345690","url":null,"abstract":"<p><p>Kaposi sarcoma (KS) is a rare, human herpesvirus-8 (HHV-8)-associated vascular tumor that primarily affects the skin but can involve visceral organs, particularly in immunosuppressed patients. While iatrogenic KS is well-documented in adults, isolated gastrointestinal involvement in pediatric cases remains unreported. We describe a 16-year-old HIV-negative male with chronic granulomatous disease (CGD) who initially presented with inflammatory bowel disease-like symptoms and was treated with immunosuppressive therapy. Over 17 months, he developed recurrent infections, hepatosplenomegaly, and ultimately intestinal perforation, necessitating emergency colectomy. Histopathology confirmed iatrogenic KS, highlighting the need for increased awareness of this rare malignancy in immunocompromised pediatric patients and carefully balancing the risks of long-term immunosuppressive therapy.</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":"10935266251345690"},"PeriodicalIF":0.0,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295650","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":"Infant With a Severe Form of <i>GLRX5</i>-Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at Autopsy.","authors":"Elizabeth O Ferreira, Marc R Del Bigio, Jason Morin, Patrick Frosk","doi":"10.1177/10935266251335065","DOIUrl":"https://doi.org/10.1177/10935266251335065","url":null,"abstract":"<p><p>Glutaredoxin 5 (GLRX5) is a mitochondrial protein encoded by the GLRX5 gene, which is essential for cellular redox homoeostasis, lipoic acid synthesis, and iron-sulfur cluster transfer. Rare cases of pathogenic GLRX5 mutations have been associated with sideroblastic anemia and non-ketotic hyperglycinemia with progressive spasticity and cavitating leukoencephalopathy. We report an 11-month-old child, who died following aspiration, with severe cardiomyocyte mitochondrial abnormalities and cerebral white matter degeneration in the context of a homozygous GLRX5 variant (c.208A>G, p.S70G).</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":"10935266251335065"},"PeriodicalIF":0.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144145416","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 Neonatal Pulmonary Hypertension in Trisomy 21 (T21) Likely Due to Congenital Portosystemic Shunts.","authors":"Rachel Guest, Dilshad Dhaliwal, Darryl Kinnear, Debra Kearney, Nahir Cortes-Santiago, Nidhy Varghese, Kalyani R Patel","doi":"10.1177/10935266251343287","DOIUrl":"https://doi.org/10.1177/10935266251343287","url":null,"abstract":"<p><p>Children with Trisomy 21 (T21) have an increased incidence of pulmonary hypertension (PHTN); most commonly due to congenital heart/lung diseases but also in conjunction with other T21-associated gastrointestinal and metabolic abnormalities. This report describes a 2 days old, full-term male neonate with T21, without significant cardiac anomalies presenting with severe hypoxic respiratory failure eventually leading to death. Autopsy confirmed T21-associated dysmorphic features and revealed both extra and intrahepatic congenital portosystemic shunts (CPSS). Additionally, the liver demonstrated dilated hepatic and portal veins and mildly altered lobular architecture without any focal lesions. Bilateral lungs showed mild alveolar maldevelopment, double capillary loops, and normal lung to body weight ratio without vascular hypertensive changes. This case underscores the importance of careful examination of the liver hilum and considering CPSS as a potential etiology of PHTN in neonates with T21 in the absence of cardiac defects or significant lung 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":"10935266251343287"},"PeriodicalIF":0.0,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136627","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":"Evaluating Intestinal Metaplasia in Pediatric Gallbladder Specimens: Clinicopathologic Significance and Sampling Thresholds.","authors":"Adeyinka Akinsanya, Iván A González","doi":"10.1177/10935266251341508","DOIUrl":"https://doi.org/10.1177/10935266251341508","url":null,"abstract":"<p><strong>Background: </strong>Gallbladders are a commonly encounter specimen in pediatric pathology practice. In the adult population, intestinal metaplasia (IM) in the gallbladder is associated with the development of dysplasia and adenocarcinoma; however, in children its significance is unknown, and the appropriate sampling has not been described which is the goal of this study.</p><p><strong>Methods: </strong>Twenty-five routine pediatric cholecystectomy cases with IM were identified, and their clinical and histologic findings were reviewed.</p><p><strong>Results: </strong>Of these 25 cases, 23 were female (92%). The most common indication for surgery was cholelithiasis (84%). Stones were present in 21 cases (84%). Twenty-three cases (92%) had additional sections submitted with an average of 3.9 slides (range = 3-6), and 52% had IM in additional blocks. However, no dysplasia or carcinoma was identified in any case.</p><p><strong>Conclusion: </strong>IM in the gallbladder is frequently seen in the setting of gallstones and chronic inflammation. Based on our experience, no additional sampling is required when incidentally identified.</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":"10935266251341508"},"PeriodicalIF":0.0,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144103502","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":"Author(s)' Reply - Vitelline Vessel Remnant - Derived Funisitis: Semantics, Severity, and Significance.","authors":"James R Wright,&nbsp;Weiming Yu,&nbsp;Lawrence de Koning","doi":"10.1177/10935266221113450","DOIUrl":"https://doi.org/10.1177/10935266221113450","url":null,"abstract":"The authors thank Dr. Hatano for his letter to the editor in response to our paper, as this creates an opportunity for further dialog on an entity which appeared as a surprising finding in another paper on vitelline vessel remnants (VVRs); in that paper, acute inflammation arising from VVRs was seen in 70.3% of 37 cords with VVRs; cord cross-sections were stained with both H&E and CD15 immunostains and a complex grading/staging system was utilized to characterize the scope and distribution of infiltrates. When writing a follow-up paper which described two primary patterns of fetal circulation within VVRs, 70 new cases of cords with VVRs were studied and, as mentioned in the current paper, these same 70 cases were used in the study currently under discussion. Having found no advantage to CD15 immunostaining, we developed a simpler, H&E-based low vs high grade/stage system in the current paper. Some of the ”basic information” that Hatano describes as “missing” is provided in the longer paper using the same 70 cases. Other requested information is clinical and, since our study was purely histological, we did not have access to this information – nor was it needed to make our histological observations. Hatano et al. recently published a new CD15immunostain-based classification system for neutrophilic responses in umbilical cords. Overall, their method is highly resource-intensive, but we will focus only on the portion of their study related to VVR inflammation; they concluded the presence of CD15+ cells surrounding VVRs has “no clinical or pathological relevance ... as per statistical analysis.” Such a definitive statement cannot be justified after comparing groups with sample sizes of 3 (cases without vitelline vasculitis) and 19 (cases with vitelline vasculitis). According to their online Supplemental Table 2, only 3 of 22 placentas with VVRs also showed histologic evidence of acute chorioamnionitis; interestingly, all 3 cords had vitelline vasculitis and all cases with the presence of both a VVR and chorioamnionitis showed vitelline vasculitis. In our 4-fold larger study, we found VVR-derived funisitis had a sensitivity of 88% and specificity of 100% for histological evidence of amniotic fluid infection (AFI) in third-trimester placentas. Many of their clinical indicators that could logically be affected by AFI showed a supportive trend. Incidence of threatened premature delivery, frequency of threatened abortion, bacterial vaginosis, premature rupture of membranes, and elevated median maternal C-reactive protein were all higher among cases with vitelline vasculitis. Regardless, their “vitelline vasculitis” does not fully overlap with our “VVR-derived funisitis.” Hatano et al. relied upon CD15-staining, which is both too sensitive and not specific (figure). It should be noted that antibodies to CD15 also stain CD68+ macrophages, which are present in Wharton’s jelly, especially in the vicinity of VVRs. Figure 3 of their paper shows a paired VVR sur","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"572-573"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40585391","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 Teratocarcinosarcoma With <i>CTNNB1</i> Gene Mutation Presenting as an Ocular Mass.","authors":"Saeeda Almarzooqi,&nbsp;Miguel Reyes-Múgica,&nbsp;Bassam R Ali,&nbsp;Aya Habbal,&nbsp;Mohammad J Asha,&nbsp;Eman T AlShamsi","doi":"10.1177/10935266221111127","DOIUrl":"https://doi.org/10.1177/10935266221111127","url":null,"abstract":"<p><p>Teratocarcinosarcoma is an extremely rare malignancy of the nasal cavity and paranasal sinuses. It exhibits both sarcomatous and carcinomatous components. Less than 100 cases are reported. It presents in adults with only two reported cases in infancy. Here we present a case of 3-week-old female with antenatally detected ocular mass. MRI revealed an exophytic right ocular mass (10 × 7.0 × 7.0 cm) with intracranial extension. The tumor consisted of malignant glands and mesenchymal elements of undifferentiated blastema-like cells and immature neuroepithelium. After an initial diagnosis and treatment for a Wilms tumor protocol, the mass showed no response. A second opinion rendered a diagnosis of sinonasal teratocarcinosarcoma. The patient underwent surgical resection and seven cycles of CNS ICE chemotherapy. A second debulking surgery revealed a very scant viable tumor with post-treatment changes. The patient is alive at 43 months on weekly vincristine maintenance. Molecular testing revealed a somatic <i>CTNNB1</i> gene mutation. In conclusion, this is a rare and aggressive tumor which showed disease free survival beyond that reported in the literature with the appropriate use of multimodality therapy.</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":"562-567"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40194339","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":"Enid Gilbert Barness: In Memoriam.","authors":"David Parham","doi":"10.1177/10935266221120229","DOIUrl":"https://doi.org/10.1177/10935266221120229","url":null,"abstract":"","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"497-498"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40370239","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":"Anaplastic Sarcoma of Kidney and DICER1.","authors":"Louis P Dehner,&nbsp;Kris Ann Schultz,&nbsp;D Ashley Hill","doi":"10.1177/10935266221111632","DOIUrl":"https://doi.org/10.1177/10935266221111632","url":null,"abstract":"","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"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40370241","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}