John Kemuel De Guzman, Weiming Yu, Lawrence de Koning, Christopher Horn, James R Wright
{"title":"Vitelline Vessel Remnant-Derived Funisitis Is a Sensitive and Specific Predictor of Histological Evidence of Amniotic Fluid Infection.","authors":"John Kemuel De Guzman, Weiming Yu, Lawrence de Koning, Christopher Horn, James R Wright","doi":"10.1177/10935266211033271","DOIUrl":"https://doi.org/10.1177/10935266211033271","url":null,"abstract":"<p><strong>Background: </strong>4-11% of umbilical cords contain vitelline vessel remnants (VVRs). A recent study has described neutrophilic inflammation arising from VVRs and suggested an association with amniotic fluid infection (AFI).</p><p><strong>Methods: </strong>During routine placental pathology sign-out over a six month period, we identified 70 cords with VVRs. HE-stained sections were re-examined for \"VVR-derived funisitis,\" which was classified as low or high grade/stage based upon whether neutrophils were present only in Wharton's jelly near the VVRs or whether neutrophils were also present near the cord's amniotic surface. The same placentas were also examined for histologic evidence of AFI (maternal response = acute chorionitis or chorioamnionitis vs. fetal response = chorionic vasculitis, umbilical vasculitis, or funisitis vs. both).</p><p><strong>Results: </strong>Neutrophilic inflammation arising from VVRs was present in 54.3% (38/70); 15 and 23 lesions were low and high grade/stage, respectively. \"VVR-derived funisitis\" was strongly associated with histological evidence of AFI elsewhere in the placenta. Its overall sensitivity and specificity were 0.94 and 0.88; when VVR-derived funisitis was high grade/stage or diagnosed in the third trimester, specificity rose to 1.0.</p><p><strong>Conclusion: </strong>\"VVR-derived funisitis\" has a strong association with histological evidence of AFI.</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":"551-553"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/10935266211033271","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39202634","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}
Anna Keogh, Wendy Ferguson, Debbie Nolder, Emma Doyle, Noel McEntagart
{"title":"Vertical Transmission of <i>Trypanosoma Cruzi</i> in a Non-Endemic Country: Histology of the Infected Placenta.","authors":"Anna Keogh, Wendy Ferguson, Debbie Nolder, Emma Doyle, Noel McEntagart","doi":"10.1177/10935266211012192","DOIUrl":"https://doi.org/10.1177/10935266211012192","url":null,"abstract":"<p><p>Chagas disease, once confined to rural Latin America is an increasing public health concern in non-endemic countries due to population movements. Here we present an unexpected finding of a placenta infected with T. cruzi from a Brazilian woman residing in Ireland. Histology of the placenta showed a lymphocytic chorioamnionitis with multinucleated giant cells (MNGCs) as well as cord vasculitis and funisitis. Amastigotes of trypanosomiasis were found in both cord and membranes. The placenta parenchyma, however, had no villitis or amastigotes and maturation was appropriate for gestation. To date, there have been few reported cases of vertical transmission in non-endemic countries. We discuss the histological findings and review the literature on potential modes of transmission from mother to fetus.</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":"559-563"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39293051","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}
David J Papke, Adam S Fisch, Sarangarajan Ranganathan, Allison O'Neill, Micheál Breen, Alanna J Church, Antonio R Perez-Atayde, Alyaa Al-Ibraheemi
{"title":"Undifferentiated Embryonal Sarcoma of the Liver With Rhabdoid Morphology Mimicking Carcinoma: Expanding the Morphologic Spectrum or a Distinct Variant?","authors":"David J Papke, Adam S Fisch, Sarangarajan Ranganathan, Allison O'Neill, Micheál Breen, Alanna J Church, Antonio R Perez-Atayde, Alyaa Al-Ibraheemi","doi":"10.1177/10935266211018930","DOIUrl":"https://doi.org/10.1177/10935266211018930","url":null,"abstract":"<p><p>Undifferentiated embryonal sarcoma of the liver (UESL) is a rare aggressive neoplasm that occurs predominantly in children. Like mesenchymal hamartoma of the liver (MHL), UESL harbors recurrent rearrangements involving 19q13.3 and 19q13.4, a region of the genome that contains a primate-specific cluster of micro-RNAs. Here, we present a case of a high-grade neoplasm that arose in the left hepatic lobe of a 5-year-old male and gave rise to widespread lymph node, visceral, and soft tissue metastases. The tumor was composed of sheets, tubules, and papillae of epithelioid cells with rhabdoid morphology. INI1 and BRG1 expression were retained. Tumor cells diffusely expressed epithelial markers, including multiple keratins. While the morphologic and immunophenotypic features were suggestive of poorly differentiated carcinoma with rhabdoid features, the tumor was found to harbor the t(11;19)(q13;q13.3) translocation characteristic of UESL, as well as a <i>TP53</i> mutation. Given the clinical presentation, imaging, clinical course, the tumor was classified as UESL with unusual, carcinoma-like histopathologic features. In the context of an unclassified high-grade hepatic tumor in a young child, molecular or cytogenetic testing for chromosome 19q13 alterations should be considered.</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":"564-569"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/10935266211018930","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39088871","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}
Hezhen Ren, S Rod Rassekh, Atilano Lacson, Cheng-Han Lee, Brendan C Dickson, Catherine T Chung, Anna F Lee
{"title":"Malignant Mesothelioma With <i>EWSR1-ATF1</i> Fusion in Two Adolescent Male Patients.","authors":"Hezhen Ren, S Rod Rassekh, Atilano Lacson, Cheng-Han Lee, Brendan C Dickson, Catherine T Chung, Anna F Lee","doi":"10.1177/10935266211021222","DOIUrl":"https://doi.org/10.1177/10935266211021222","url":null,"abstract":"<p><p>Malignant mesothelioma is a neoplasm of serosal surfaces, most commonly affecting the pleura. The peritoneum, pericardium, and tunica vaginalis are less frequently involved. Malignant mesothelioma with <i>EWSR1-ATF1</i> fusion in young adults was recently reported in the literature. Here, we present two pediatric cases of <i>EWSR1-ATF1</i> translocation-associated malignant mesothelioma in the peritoneum and pericardium respectively. Both cases lacked a known exposure history. Microscopy in both cases showed predominantly epithelioid morphology with ample eosinophilic cytoplasm, and immunohistochemistry was positive for pan-keratin, calretinin, and WT1. Both cases showed <i>EWSR1-ATF1</i> gene rearrangement by RNA sequencing, which was instrumental in confirming the diagnosis of malignant mesothelioma and to exclude more common pediatric sarcomas, especially in the context of limited sampling.</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":"570-574"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/10935266211021222","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39009201","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}
Heather Rytting, Zachary J Dureau, Jose Velazquez Vega, Beverly B Rogers, Hong Yin
{"title":"Autopsy Study of Calretinin Immunohistochemistry in the Anorectal Canal in Young Infants and Potential Implications for Rectal Biopsy Approach in the Neonatal Period.","authors":"Heather Rytting, Zachary J Dureau, Jose Velazquez Vega, Beverly B Rogers, Hong Yin","doi":"10.1177/10935266211030172","DOIUrl":"https://doi.org/10.1177/10935266211030172","url":null,"abstract":"<p><strong>Background: </strong>Absent submucosal ganglion cells in biopsies 1-3 cm above the pectinate line establishes the pathologic diagnosis of Hirschsprung Disease (HD). Calretinin stains both ganglion cells and their mucosal neurites and has gained importance in HD diagnosis. Absent calretinin positive mucosal neurites in biopsies at the appropriate level above the pectinate line is highly specific for HD. Whether this applies to lower biopsies is uncertain. To address this, we studied anorectal canal autopsy specimens from infants.</p><p><strong>Methods: </strong>We performed an autopsy study of infant anorectal canal specimens to describe calretinin staining in this region. Calretinin staining was correlated with histologic and gross landmarks.</p><p><strong>Results: </strong>In all 15 non-HD specimens, calretinin positive mucosal neurites were present in glandular mucosa up to the anorectal line where neurites rapidly diminished. Age range was preterm 26 weeks to 3 months.</p><p><strong>Conclusions: </strong>Calretinin positive mucosal neurites are present in glandular mucosa up to the anorectal line in young infants. This is potentially important regarding neonatal HD biopsy level and diagnosis. Positive calretinin staining at the anorectal line favors normal innervation making HD unlikely. Absent calretinin positive neurites in glandular mucosa is worrisome for HD in young infants, regardless of location.</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":"542-550"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/10935266211030172","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39190164","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":"Editor in Chief's Message.","authors":"Pierre Russo","doi":"10.1177/10935266211062358","DOIUrl":"https://doi.org/10.1177/10935266211062358","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":"503"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39698555","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}
Zahra Alipour, Kris Ann P Schultz, Ling Chen, Anne K Harris, Ivan A Gonzalez, John Pfeifer, D Ashley Hill, Mai He, Louis P Dehner
{"title":"Programmed Death Ligand 1 Expression and Related Markers in Pleuropulmonary Blastoma.","authors":"Zahra Alipour, Kris Ann P Schultz, Ling Chen, Anne K Harris, Ivan A Gonzalez, John Pfeifer, D Ashley Hill, Mai He, Louis P Dehner","doi":"10.1177/10935266211027417","DOIUrl":"https://doi.org/10.1177/10935266211027417","url":null,"abstract":"<p><strong>Introduction: </strong>Pleuropulmonary blastoma (PPB), a rare childhood neoplasm of the lung, is linked to pathogenic <i>DICER1</i> variants. We investigated checkpoint inhibitor markers including Programmed Death Ligand 1 (PD-L1), PD1, CD8 and tumor mutational burden (TMB) in PPB.</p><p><strong>Material and methods: </strong>Cases were collected from departmental archives and the International PPB/<i>DICER1</i> Registry. Immunohistochemistry (IHC) for PD-L1, PD-1, CD8 and DNA mismatch repair (MMR) genes were performed. In addition, normal-tumor paired whole exome sequencing (WES) was performed in two cases.</p><p><strong>Results: </strong>Twenty-five PPB cases were studied, consisting of Type I (n = 8, including 2 Ir), Type II (n = 8) and Type III (n = 9). PD-L1 combined positive score (CPS) of 1, 4 and 80 was seen in three (3/25, 12.0%) cases of Type II PPB with negative staining in the remaining cases. PD-1 and CD8 stains demonstrated positive correlation (<i>P</i> < .05). The density of PD1 and CD8 in the interface area was higher than within tumor (<i>P</i> < .05). The MMR proteins were retained. TMB was 0.65 mutations/Mb in type II PPB with high expression of PD-L1, and 0.94 mutations/Mb in one negative PD-L1 case with metastatic tumor.</p><p><strong>Conclusion: </strong>A small subpopulation of PPB patient might benefit from checkpoint immunotherapy due to positive PD-L1 staining.</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":"523-530"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/10935266211027417","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39190163","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}
Anthony I Squillaro, Shengmei Zhou, Stefanie M Thomas, Eugene S Kim
{"title":"A 10-Month-Old Infant Presenting With Signs of Precocious Puberty Secondary to a Sclerosing Stromal Tumor of the Ovary in the Absence of Hormonal Elevation.","authors":"Anthony I Squillaro, Shengmei Zhou, Stefanie M Thomas, Eugene S Kim","doi":"10.1177/1093526618819605","DOIUrl":"https://doi.org/10.1177/1093526618819605","url":null,"abstract":"<p><p>Precocious puberty in an infant is an alarming and infrequent finding, making the differential diagnosis difficult for practitioners. Precocious puberty secondary to a sclerosing stromal tumor (SST) of the ovary is rare. We present a case of a child that began precocious puberty at 3 months of age including development of breast buds, pubic hair, growth spurt, and menarche 5 days prior to presenting to pediatric endocrinology at 10 months. She underwent right salpingo-oophorectomy which demonstrated a soft tissue mass occupying almost the entire ovary with a tan-pink fleshy cut surface. Histological examination confirmed a variant of SST. This case represents an extremely young onset of precocious puberty secondary to a variant of SST without hormonal elevation.</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":"375-379"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618819605","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36796862","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":"Noonan Syndrome Case Report: PTPN11 and Other Potential Genetic Factors Contributing to Lethal Hypertrophic Right Ventricular Cardiomyopathy.","authors":"Elena Daoud, David Zwick","doi":"10.1177/1093526618825411","DOIUrl":"https://doi.org/10.1177/1093526618825411","url":null,"abstract":"<p><p>Noonan syndrome is a genetic condition with a heterogeneous phenotype and multisystem involvement. The pathogenesis of this disorder has been attributed to the mutations in the RAS/MAPK signaling pathway involved in cell proliferation and differentiation. The most common clinical presentations are related to cardiovascular abnormalities with congestive heart failure as the most common mechanism of death. We present the autopsy findings from a Noonan syndrome patient who died as a result of an unusual form of right ventricular obstruction associated with a rare PTPN11 variant previously reported without details of the cardiac findings. Discussion follows that includes overview of the incidence, genetic causes, types of right-sided obstructive lesions, PTPN11 genotype-cardiac phenotype correlations, and other potential mechanisms that may contribute to disease heterogeneity.</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":"386-390"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618825411","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36871868","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}
Dina El Demellawy, James Yj Lee, Laura McDonell, David A Dyment, A S Knisely, Jean McGowan-Jordan, Bo Ngan, Milton Finegold, Raj P Kapur, Ahmed Nasr
{"title":"Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings.","authors":"Dina El Demellawy, James Yj Lee, Laura McDonell, David A Dyment, A S Knisely, Jean McGowan-Jordan, Bo Ngan, Milton Finegold, Raj P Kapur, Ahmed Nasr","doi":"10.1177/1093526618806750","DOIUrl":"https://doi.org/10.1177/1093526618806750","url":null,"abstract":"<p><p>Hepatic mesenchymal hamartoma is a rare benign neoplasm principally encountered in young children. Its origin is unknown. We report an unusual hepatic mesenchymal hamartoma in a 7-month-old girl, including histopathologic findings, immunophenotype, and karyotype. Chromosomal microarray analysis of tumoral tissue and circulating lymphocytes found 4 copies of a segment at 1q44 and fluorescence in situ hybridization indicated tandem triplication, ascribed to expansion of a paternal tandem duplication. This genetic abnormality may have played a role in pathogenesis.</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":"365-369"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618806750","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36720440","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}