Pediatric and Developmental Pathology最新文献

{"title":"TTF-1 Immunoreactivity in the Germinal Matrix: A Brief Case Study.","authors":"Sumit Das","doi":"10.1177/10935266241264603","DOIUrl":"10.1177/10935266241264603","url":null,"abstract":"","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"608-610"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","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}

{"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":"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":" ","pages":"603-607"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","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":"Umbilical Cord Hemangiomas: A Multi-Institutional Case Series With Literature Review.","authors":"Elizabeth O Ferreira, Camelia Stefanovici, Stefan Kostadinov, Virginia Duncan","doi":"10.1177/10935266241264161","DOIUrl":"10.1177/10935266241264161","url":null,"abstract":"<p><p>Umbilical cord hemangiomas are rare lesions, for which data on pregnancy outcome is lacking. This study combines a multi-institution 4-case series with a systematic literature search (n = 52) to determine possible pathologic lesion parameters which may have an effect on pregnancy outcome. Of all 56 pregnancies, lesion size ranged from 0.2 to 23.0 cm with pregnancy outcomes ranging from healthy liveborns (58.9%), liveborns with severe complications largely due to prematurity and/or fluid overload (12.5%), intrauterine/neonatal demise (25.0%), and pregnancy termination (3.6%). Of the 52 cases included for statistical analysis, there was no significant association between fetal outcome and vascular lesion location (<i>P</i> = .12) or fetal outcome and single umbilical artery involvement versus involvement of other vasculature (<i>P</i> = .29). The mean length of vascular lesions that resulted in healthy liveborns did not significantly differ from those resulting in severe fetal complications and/or demise (<i>P</i> = .72). Cases resulting in severe complications and/or demise were significantly earlier at delivery than those resulting in healthy liveborns (<i>P</i> < .001). Combined findings suggest that functional lesion characteristics, such as the degree of turbulent flow generated, have more significance than size, especially in early gestation losses. Moving forward, standardized reporting of pathologic lesion characteristics is paramount to better predict pregnancy prognosis.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"569-575"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141762625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary Intraosseous Spindle Cell Rhabdomyosarcoma: A Case Report in an Unusual Location.","authors":"Jaclyn M Plotzke, Raja Rabah, Dan R Robinson, Amy Edmonds, David A Bloom, Rajen Mody, Amer Heider","doi":"10.1177/10935266241257547","DOIUrl":"10.1177/10935266241257547","url":null,"abstract":"<p><p>Spindle cell/sclerosing rhabdomyosarcoma is an infrequent subtype of rhabdomyosarcoma according to the World Health Organization Classification of Soft Tissue and Bone Tumours, which includes a novel category of intraosseous spindle-cell rhabdomyosarcomas (ISCRMS) with <i>EWSR1</i>:: or <i>FUS::TFCP2</i> fusions. We report a case of ISCRMS with <i>EWSR1::TFCP2</i> fusion presenting in the femur mimicking osteosarcoma in this unusual primary location. We present an 18-year-old male with relapsed widely metastatic sarcoma, morphologically identical to osteosarcoma responding poorly to chemotherapy, initially presenting in the distal femur. Sections showed a high-grade malignant neoplasm with sheets of epithelioid and spindled cells without obvious rhabdomyoblastic differentiation morphologically containing focal areas resembling new bone/osteoid formation. Molecular sequencing identified t(12;22) <i>EWSR1::TFCP2</i>. The tumor cells were diffusely positive for pancytokeratin, MyoD1, and ALK by retrospective immunohistochemistry. Desmin and SATB2 were focally positive. Myogenin was negative, and INI-1 expression was retained. ISCRMS commonly involves craniofacial and pelvic bones, but rarely originates in long bones, as in this case. Initially, osteosarcoma was the primary diagnostic consideration based on distal long bone location, patient age, and evidence of osteoid formation. Distinction between the two entities may be nearly impossible on morphologic grounds alone, which presents a diagnostic pitfall without molecular or extensive immunoprofiling data.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"597-602"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141285441","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 Connection Between Anatomical Substrate and Clinical Severity in Fetal Ebstein Anomaly.","authors":"Sara Coacci, Erin L J Alston, Takato Yamasaki, Christina Ronai, Stephen P Sanders, Chrystalle Katte Carreon","doi":"10.1177/10935266241250235","DOIUrl":"10.1177/10935266241250235","url":null,"abstract":"<p><p>Ebstein anomaly (EA) is a rare congenital heart defect characterized by abnormal development of the tricuspid valve (TV) and right ventricular myocardium. This study documents 2 dramatic cases of fetal EA characterized by hydrops and cardiomegaly, leading to intrauterine or early neonatal death. These clinical outcomes were associated with morphological abnormalities including severe tricuspid regurgitation, unguarded TV orifice, pulmonary atresia, and flattened right ventricular myocardium. This study highlights that these adverse anatomical features may result in unfavorable clinical outcomes in fetal EA. While timely identification of such features by prenatal ultrasound is crucial for providing accurate prognostic stratification and guiding treatment decisions, fetopsy may be necessary to discern EA among the spectrum of right-heart anomalies.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"587-591"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960955","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":"Decreased Alpha Klotho Expression in Placentas Exposed to Severe Maternal Vascular Malperfusion.","authors":"Andrew Franklin, Alexa Freedman, Ann Borders, Lauren Keenan Devlin, Erin S Proctor, Erica Price, Steve Cole, Greg Miller, Linda M Ernst","doi":"10.1177/10935266241259346","DOIUrl":"10.1177/10935266241259346","url":null,"abstract":"<p><strong>Background: </strong>Placental maternal vascular malperfusion (MVM) is characterized by accelerated villous maturation and has been associated with a decrease in the antiaging protein, alpha-klotho (AK). Our aim was to characterize AK protein and gene expression in the placenta and fetal organs.</p><p><strong>Methods: </strong>We utilized 2 cohorts. First, we characterized AK protein expression in an autopsy cohort where cases were defined as MVM as the cause of fetal death compared to a stillborn control population. Second, we characterized placental and umbilical cord blood AK gene expression in a liveborn population with and without MVM.</p><p><strong>Results: </strong>We found decreased protein expression in the villous trophoblastic cells of placentas exposed to severe MVM and decreased AK gene expression in placental tissue exposed to MVM. We did not see any statistically significant differences in fetal organ or umbilical cord blood AK expression based on the presence or absence of MVM. Furthermore, in liveborn infants, we also found increased odds of preterm birth with lower placental AK expression.</p><p><strong>Conclusions: </strong>Decreased AK gene and protein expression in the placenta in the setting of MVM is consistent with the theory of placental aging in MVM and is associated with increased odds of preterm birth.</p>","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"559-568"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441122","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":"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":" ","pages":"545-551"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","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":"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":"9 1","pages":""},"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":"26 1","pages":""},"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":"Founders of Pediatric Pathology: Dr. Ron Jaffe (1943-2022) - An Appreciation.","authors":"Laura S Finn, Jennifer Picarsic, A S Knisely","doi":"10.1177/10935266231222712","DOIUrl":"10.1177/10935266231222712","url":null,"abstract":"","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":" ","pages":"383-386"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139944674","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}