Pediatric and Developmental Pathology最新文献

{"title":"Fetal Vertebral Chondrostasis-Significance of Excessive Cartilage in Vertebral Bodies of Newborns.","authors":"Emily Gorman, Steven J Staffa, Harry Kozakewich, David Zurakowski","doi":"10.1177/10935266241258543","DOIUrl":"https://doi.org/10.1177/10935266241258543","url":null,"abstract":"<p><strong>Introduction: </strong>We describe an abnormality in fetal and neonatal vertebral bodies whose most conspicuous characteristic is an increase in cartilaginous matrix within cancellous osseous trabeculae. We have termed this finding fetal chondrostasis (FC).</p><p><strong>Methods: </strong>We initiated a retrospective review of autopsy reports in which this condition had been prospectively diagnosed during a 36-year period. The Chalkley point counting method was applied to histologic sections of vertebral bodies to assess the relative components of cartilage, bone, and bone marrow. The results were compared to those of three control groups whose causes of death were prematurity, birth trauma, and infection.</p><p><strong>Results: </strong>We found that on average, the cartilaginous content in the FC group was considerably greater in both preterm and term infants when compared to controls. FC seemed to evolve from diminished activity in the cartilaginous growth zone resulting in formation of excessively broad cartilaginous columns. These subsequently suffered from delayed resorption following their incorporation within cancellous bony trabeculae.</p><p><strong>Conclusion: </strong>Excess cartilage within cancellous bone of vertebral centra in newborns is merely one aspect of disturbed intrauterine osseous development but is seemingly more readily discernible than other features at this site. The most common clinical correlates for FC were multiple congenital anomalies, congenital heart disease, intrauterine growth retardation, prematurity, and certain maternal factors.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301149","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}

{"title":"Maternal Cytomegalovirus (CMV) Serology: The Diagnostic Limitations of CMV IgM and IgG Avidity in Detecting Congenital CMV Infection","authors":"Elaine S. Chan, Ian Suchet, David Somerset, Lawrence de Koning, Rati Chadha, Nancy Soliman, Verena Kuret, Weiming Yu, Julie Lauzon, Mary Ann Thomas, Elaine Poon, Hong Yuan Zhou","doi":"10.1177/10935266241253477","DOIUrl":"https://doi.org/10.1177/10935266241253477","url":null,"abstract":"Introduction:Congenital cytomegalovirus (cCMV) is a common congenital viral infection. Testing for cCMV usually begins with assessing maternal CMV serology, specifically IgM and IgG antibodies. A negative maternal CMV IgM suggests a low risk of recent maternal CMV infection, thereby suggesting a low risk of cCMV in the fetus. Consequently, cCMV is often ruled out when maternal CMV IgM is negative.Methods:In our perinatal autopsy and placental pathology database, we identified 5 cases of cCMV despite negative maternal CMV IgM results in the second trimester.Results:In all 5 cases, fetal abnormalities were first detected by ultrasound in the second trimester, prompting maternal CMV testing. Since second trimester maternal CMV IgM was negative in all cases, cCMV was considered unlikely, thus precluding further prenatal CMV testing in 4 of these cases. The diagnosis of cCMV was subsequently made through placental and/or autopsy examinations. Following this diagnosis, retrospective CMV serology and IgG avidity testing was performed on stored frozen first-trimester maternal blood samples in 3 cases. Among these, the first-trimester samples in 2 cases were IgG+, IgM+, and exhibited low IgG avidity, suggesting a primary maternal CMV infection around the time of conception. In the third case, both first and second-trimester maternal blood samples were IgG+, IgM−, and showed high IgG avidity, suggesting a non-primary maternal CMV infection (i.e., reactivation or reinfection of CMV).Conclusion:A negative maternal CMV IgM in the second trimester cannot exclude cCMV infection. While CMV IgG avidity testing and analysis of stored frozen first-trimester maternal blood samples provide valuable insights, they have limitations. CMV PCR performed on amniotic fluid is a useful prenatal diagnostic tool. For cases of unexplained fetal abnormalities or death, autopsy and placental examination are recommended.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260376","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}

{"title":"Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis","authors":"Alexia Gazeu, Sophie Collardeau-Frachon","doi":"10.1177/10935266241239241","DOIUrl":"https://doi.org/10.1177/10935266241239241","url":null,"abstract":"Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies. Differential diagnoses are discussed as several syndromes may include CAKUT as a phenotypic component and renal dysplasia may occur in some ciliopathies, tumor predisposition syndromes, and inborn errors of metabolism. Diagnosis and genetic counseling for CAKUT are challenging, due to the extensive variability in presentation, genetic and phenotypic heterogeneity, and difficulties to assess postnatal lung and renal function on prenatal imaging. The review highlights the importance of perinatal autopsy and pathological findings in surgical specimens to establish the diagnosis and prognosis of CAKUT. The indications and the type of genetic testing are discussed. The aim is to provide essential insights into the practical approaches, diagnostic processes, and genetic considerations offering valuable guidance for pediatric and perinatal pathologists.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260749","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}

{"title":"Rare Hybrid Perineurioma and Granular Cell Tumor: A Pediatric Case.","authors":"Kennedy H Sun, Sonia P Goyal, Evelyn M Kim, Esperanza Mantilla-Rivas, Gary F Rogers, Sam P Gulino","doi":"10.1177/10935266241274529","DOIUrl":"https://doi.org/10.1177/10935266241274529","url":null,"abstract":"<p><p>We present a case of a 13-year-old patient with a distinct tumor with both granular cell and perineurial elements, located on the lower lip. The patient presented with a long-standing lip mass that was clinically felt to most likely represent a mucocele. Following surgical excision, histopathological examination revealed a well-circumscribed tumor composed of granular cells with positive S100 protein staining and spindled cells positive for EMA and GLUT-1, confirming mixed neuroectodermal and perineurial origin. This is the first case documenting a perineurial-granular cell hybrid tumor in a patient under 18 years old, and the first to be reported in the head and neck. This case expands our understanding of hybrid PNSTs, emphasizing the importance of considering diverse clinical presentations, especially in the context of rare pediatric occurrences in atypical locations.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156692","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}

{"title":"A Novel <i>TEK::GAB2</i> Gene Fusion in Pediatric Angiosarcoma of Pelvic soft Tissue: A Case Report and Literature Review.","authors":"Zachary Emmanuel Sandoval, Ryan J Schmidt, Jessica Sheth Bhutada, Nick Shillingford, Shengmei Zhou","doi":"10.1177/10935266241279073","DOIUrl":"10.1177/10935266241279073","url":null,"abstract":"<p><p>Pediatric angiosarcoma of soft tissue, an extremely rare entity, remains poorly understood from a genetic standpoint. Herein, we present the case of a previously healthy 17-year-old girl with acute left hip pain. Subsequent magnetic resonance imaging revealed a 21.8 cm left pelvic sidewall mass with heterogeneous enhancement and multiple lung nodules. Biopsy of the tumor showed an infiltrative, hemorrhagic neoplasm composed primarily of atypical spindle to epithelioid cells. Focal vasoformative architecture was appreciated. Immunohistochemically, the tumor cells were strongly positive for CD31, ERG, and FLI-1, supporting the diagnosis of angiosarcoma. Genetic analysis identified a novel <i>TEK::GAB2</i> gene fusion. <i>TEK</i> belongs to the angiopoietin receptor family, and its fusion with <i>GAB2</i> is predicted to mediate tumorigenesis. This report expands the current knowledge on the spectrum of gene rearrangements of angiosarcoma.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156691","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}

{"title":"The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.","authors":"Nicoleta-Andreea Bobric, Julie Grevoul-Fesquet, Luc Rigonnot, Detlef Trost, Aïcha Boughalem, Jelena Martinovic","doi":"10.1177/10935266241272735","DOIUrl":"https://doi.org/10.1177/10935266241272735","url":null,"abstract":"<p><p>Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive genetic condition with 90% of cases associated with biallelic pathogenic variants in the Shwachman-Bodian-Diamond Syndrome (<i>SBDS)</i> gene on chromosome 7q.11.21. SDS belongs to ribosomopathies since <i>SBDS</i> gene encodes a protein involved in ribosomal maturation. Its phenotypic postnatal hallmark features include growth delay, bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities. We report a first fetal case of Shwachman-Diamond syndrome and extend its phenotype before birth. The clinical features mimicked vascular growth restriction with FGR and shortened long bones, associated with abnormal Doppler indices. Non-restricted fetal autopsy after termination of pregnancy allowed deep phenotyping disclosing the features of fetal skeletal dysplasia. Post-fetopathological trio exome sequencing identified biallelic pathogenic variants in the <i>SBDS</i> gene. Genotype-phenotype correlations confirmed the diagnosis and enabled an adequate genetic counseling of the parents. Our case is another example of the positive impact of fetal autopsy coupled with post-fetopathological genomic studies, even in the cases that were hitherto classified as maternal or fetal vascular malperfusion.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114837","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}

{"title":"Clinicopathologic Characterization of Invasive Fungal Intestinal Infections in Pediatric Patients.","authors":"Muhammad Shaheen, Guang-Sheng Lei, Ryan F Relich, Iván A González","doi":"10.1177/10935266241272564","DOIUrl":"https://doi.org/10.1177/10935266241272564","url":null,"abstract":"<p><strong>Background: </strong>Invasive fungal intestinal infections are rare in pediatric patients with limited studies reported to date.</p><p><strong>Methods: </strong>Retrospective study of invasive intestinal fungal infections in pediatric patients. For fungal specification, 18S rRNA gene PCR was performed using formalin-fixed paraffin-embedded tissues.</p><p><strong>Results: </strong>A total of 19 cases from 18 patients were included (13 males, 72%) with a median age of 20 days (8 days-14 years). About 13 patients (72%) presented within 67 days of birth and 11 patients (61%) were premature and 14 patients (78%) had a significant medical history. The most common location was the jejunum/ileum (56%) followed by the right colon and terminal ileum (22%). In 10 patients, the fungal elements were seen in the mucosa with 3 extending into the submucosa, and only 3 patients showed full-thickness involvement. Tissue necrosis and angioinvasion were seen in 13 (72%) and 8 (44%) patients, respectively. Morphologically, organisms consistent with <i>Candida</i> spp. were seen in 17 patients and with a mucoraceous mold in 1 patient. A 18S rRNA gene sequencing performed in 18 cases identified <i>Candida dubliniensis</i> in 16 cases and <i>Candida</i> spp. in 2 cases. During the study follow-up period, 56% of the patients died.</p><p><strong>Conclusion: </strong>In our experience, most cases were due to <i>Candida</i> spp. and predominantly in premature infants and associated with poor outcomes.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114836","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}

{"title":"Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology.","authors":"Sara J E Verdonk, Silvia Storoni, Lidiia Zhytnik, Dimitra Micha, Joost G van den Aardweg, Otto Kamp, Elisabeth M W Eekhoff, Marianna Bugiani","doi":"10.1177/10935266241272511","DOIUrl":"https://doi.org/10.1177/10935266241272511","url":null,"abstract":"<p><strong>Introduction: </strong>Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on the fetal heart. This retrospective case series investigates cardiac pathology in OI type II fetuses, aiming to address this gap.</p><p><strong>Methods: </strong>Medical records and autopsy reports of 6 genetically confirmed OI type II cases were examined. Fetuses had pathogenic variants in <i>COL1A1</i> or <i>PPIB</i>, inducing structural defects in collagen type I. In addition to hematoxylin and eosin and Elastic van Gieson staining, the expression of collagen type I, COL1A1 and COL1A2 chains was examined by immunohistochemistry.</p><p><strong>Results: </strong>Immunohistochemistry confirmed robust expression of collagen type I throughout the heart. Five fetuses had normal heart weight, while 1 had a low heart weight in the context of generalized growth retardation. None displayed structural heart anomalies.</p><p><strong>Conclusion: </strong>This study reveals robust collagen type I expression in the hearts of OI type II fetuses without structural anomalies. We hypothesize that collagen type I abnormalities may not be causative factors for heart anomalies during early embryonic development. Instead, their impact may be conceivably related to an increased susceptibility to degenerative changes later in life.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074596","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}

{"title":"Interferon γ Expressing Mucosal Cells in Pediatric Chronic Inflammatory Bowel Disease.","authors":"Jefferson Terry","doi":"10.1177/10935266241265767","DOIUrl":"https://doi.org/10.1177/10935266241265767","url":null,"abstract":"<p><p>The pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC) is multifactorial and includes aberrations in the composition of gastrointestinal mucosal inflammatory cells. Accurate identification of CD and UC is important as treatment and prognosis differs; however, CD and UC may be difficult to differentiate. Interferon γ (IFNγ) expression appears to be increased in ileal mucosa from CD patients, implying that IFNγ could be a diagnostically useful marker to differentiate CD from UC. This study uses automated assessment of IFNγ immunohistochemical expression in archival GI mucosal biopsies from stomach, duodenum, terminal ileum, and colon in a pediatric population to address this possibility. IFNγ positive mucosal cells are increased in the colon in both CD and UC compared to normal colon and in the ileum of CD compared to normal and UC. The abundance of IFNγ positive cells is not correlated with the presence of active inflammation, indicating that active inflammation is not responsible for the variance in abundance of IFNγ positive cells between cohorts and sites. Overlap between CD, UC, and normal suggests that IFNγ immunohistochemistry may only be clinically useful in select situations such as undetermined inflammatory bowel disease and additional study in these areas is warranted.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857216","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}

{"title":"TTF-1 Immunoreactivity in the Germinal Matrix: A Brief Case Study.","authors":"Sumit Das","doi":"10.1177/10935266241264603","DOIUrl":"https://doi.org/10.1177/10935266241264603","url":null,"abstract":"","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141762624","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}