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

{"title":"Placental Chorionic Cyst Fluid Has Prothrombotic Properties and Differs From Amniotic Fluid.","authors":"Moritz Stolla,&nbsp;Majed A Refaai,&nbsp;Grace Conley,&nbsp;Sherry Spinelli,&nbsp;Ann Casey,&nbsp;Hani Katerji,&nbsp;Hannah L McRae,&nbsp;Neil Blumberg,&nbsp;Richard Phipps,&nbsp;Leon A Metlay,&nbsp;Philip J Katzman","doi":"10.1177/1093526618821577","DOIUrl":"https://doi.org/10.1177/1093526618821577","url":null,"abstract":"<p><strong>Introduction: </strong>Chorionic cysts of the chorion laeve, fetal chorionic plate, septum, and free membranes have been associated with placental hypoxia, but they have no clear clinical significance. Although immunohistochemistry has identified fibronectin and collagen IV in cyst fluid, the contents have yet to be fully characterized.</p><p><strong>Methods: </strong>Placental chorionic cysts (N = 10) were sampled by fluid extraction and hemotoxylin and eosin-stained sections. Amniotic fluid samples (N = 8) were obtained from pregnant women who had cytogenetic evaluation. The content of the cysts was tested for thrombogenicity using thromboelastography. The cyst content was tested by Luminex multiplex and ELISA assays and for known prothrombotic and proinflammatory factors.</p><p><strong>Results: </strong>We identified cysts, especially those in the chorionic plate, adjacent to intervillous thrombi with apparent cyst rupture. Thromboelastography revealed a significantly shorter R time compared to whole blood control samples. Concentration of creatinine, α-fetoprotein, and surfactant D in the cyst fluid differed significantly from amniotic fluid. Cyst fluids had a significantly higher expression of all prothrombotic and some proinflammatory factors.</p><p><strong>Discussion: </strong>Our data provide the first evidence that chorionic cyst fluid is prothrombotic and different from amniotic fluid. The association of ruptured cysts with adjacent thrombi and the prothrombotic properties of cyst fluid suggest a causal relationship; however, further studies are needed.</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":"304-314"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618821577","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37194682","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":"Neuroblastoma of the Bone and Bone Marrow Without an Apparent Primary Site: Report of 4 Cases With Long-term Follow-up.","authors":"Nino Rainusso,&nbsp;Victor Seghers,&nbsp;Rachel Egler,&nbsp;John Hicks,&nbsp;Heidi V Russell","doi":"10.1177/1093526618822597","DOIUrl":"https://doi.org/10.1177/1093526618822597","url":null,"abstract":"<p><p>Children with neuroblastoma rarely present with metastatic disease without identifiable primary tumors. We describe the clinical and histopathologic characteristics of 4 patients aged 1, 7, 7, and 11 years with neuroblastoma involving bone or bone marrow without an apparent primary site. One patient presented with a periorbital bone lesion, 1 presented with a distal femoral lesion, and 2 presented with diffuse bone marrow involvement. All tumors were negative for <i>MYCN</i> amplification. All patients were alive without evidence of disease 5 years after completion of multimodality therapy. Patients with neuroblastoma of the bone and bone marrow without an apparent primary site may constitute a unique group characterized by older age at diagnosis, nonamplified <i>MYCN</i> tumors, and good response to treatment.</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":"329-333"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618822597","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36816983","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":"Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion.","authors":"Amy Ruffle,&nbsp;Malcolm Cameron,&nbsp;Nicolaas Jonas,&nbsp;Samantha Levine,&nbsp;Caroline Mills,&nbsp;C Elizabeth Hook,&nbsp;Matthew J Murray","doi":"10.1177/1093526619830290","DOIUrl":"https://doi.org/10.1177/1093526619830290","url":null,"abstract":"<p><p>Alveolar soft part sarcoma (ASPS) is an exceptionally rare non-rhabdomyosarcomatous soft tissue sarcoma (NRSTS), characterized by the translocation t(X;17) p(11.2;q25). This translocation results in the chimeric ASPSCR1-TFE3 transcription factor which drives tumorigenesis. Complete surgical resection is crucial in allowing a successful outcome in these cases. Here, we describe an 11-month-old female infant who presented with a well-circumscribed lesion of the tongue, with the clinical and radiologic appearances of an infantile hemangioma. This led to an initial plan for surveillance management. However, the mass continued to enlarge and the lesion was therefore biopsied when the infant was 17 months old. Histology showed plump epithelioid tumor cells, in many places lining pseudoalveolar spaces. Occasional Pas-D inclusions were present in the cytoplasm. Immunostaining showed nuclear positivity for TFE-3. Real-time quantitative polymerase chain reaction testing confirmed the presence of ASPSCR1-TFE3 fusion transcripts, characteristic of the translocation t(X;17) p(11.2;q25) observed in ASPS. This represents the youngest reported ASPS case with a confirmed molecular diagnosis. Complete surgical resection was undertaken and a surveillance imaging schedule implemented. This case highlights the need for regular review of the initial diagnosis and the importance of multidisciplinary discussion and early biopsy where the clinical course does not follow that expected for the putative (nonhistologically confirmed) 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":"391-395"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526619830290","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36546600","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":"Remodeling of Rectal Innervation After Pullthrough Surgery for Hirschsprung Disease: Relevance to Criteria for the Determination of Retained Transition Zone.","authors":"Raj P Kapur,&nbsp;Michael A Arnold,&nbsp;Miriam R Conces,&nbsp;Lusine Ambartsumyan,&nbsp;Jeffrey Avansino,&nbsp;Marc Levitt,&nbsp;Richard Wood,&nbsp;Kelley J Mast","doi":"10.1177/1093526618817658","DOIUrl":"https://doi.org/10.1177/1093526618817658","url":null,"abstract":"<p><strong>Background: </strong>After pullthrough surgery for Hirschsprung disease (HSCR), Glut1-positive submucosal nerve hypertrophy is used to diagnose retained transition zone in the neorectum. We hypothesized that pelvic nerves, severed during pullthrough surgery, sprout into the neorectum to mimic transition zone.</p><p><strong>Methods: </strong>The density (nerves/100x field) and maximum diameter of Glut1-positive submucosal nerves were measured in biopsies and redo resections from 20 patients with post-pullthrough obstructive symptoms. Their original and/or redo resections excluded unequivocal features of transition zone (myenteric hypoganglionosis or partial circumferential aganglionosis) in 17. Postoperative values were compared with control data from 28 cadaveric and 6 surgical non-HSCR specimens, and 14 primary HSCR resections. When possible, nerves were tracked from attached native pelvic soft tissue or aganglionic rectal cuff into the pulled-through colon.</p><p><strong>Results: </strong>Glut1-positive submucosal nerves were not present in the 11 colons of non-HSCR infants less than 1 year of age, except sparsely in the rectum. In 17 older non-HSCR controls, occasional Glut1-positive nerves were observed in prerectal colon and were larger and more numerous in the rectum. In redo resections, Glut1-positive submucosal innervation in post-pullthrough specimens did not differ significantly from age-appropriate non-HSCR rectal controls and pelvic Glut1-positive nerves were never observed to penetrate the pulled-through colon. However, the density and caliber of Glut1-positive nerves in the neorectums were significantly greater than expected based on the prerectal location from which the pulled-through bowel originated.</p><p><strong>Conclusions: </strong>Submucosal innervation in post-pullthrough specimens does not support the hypothesis that native pelvic nerves innervate the neorectum, but suggests remodeling occurs to establish the age-appropriate density and caliber of rectal Glut1-positive innervation. The latter should not be interpreted as transition zone pullthrough in a rectal biopsy from a previously done pullthrough.</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":"292-303"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618817658","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36773311","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":"Basal Chronic Villitis and Disorders of the Placental Basal Plate: A Possible Immunological Link Between Hypertensive Disorders of Pregnancy and Morbidly Adherent Placenta.","authors":"Philip J Katzman,&nbsp;Joseph Blitman,&nbsp;Leon A Metlay","doi":"10.1177/1093526619825708","DOIUrl":"https://doi.org/10.1177/1093526619825708","url":null,"abstract":"<p><strong>Background: </strong>Hypertensive disorders of pregnancy (HDP) are a common cause for preterm delivery. Prior studies showed that chronic villitis (CV) is associated with intrauterine growth restriction, preeclampsia, intrauterine fetal death, and morbidly adherent placenta (MAP). The authors hypothesize that disorders of the placental basal plate, especially basal chronic villitis (BCV), are associated with HDP.</p><p><strong>Methods: </strong>The laboratory information system was queried over 12 years to identify placentas with or without the clinical history of HDP and with or without multifocal/focal CV or BCV. As a control for tissue sampling, a similar search was performed over 5 years for placentas evaluated for MAP.</p><p><strong>Results: </strong>Of 19,683 placentas identified, 14.8% had CV which was in 18.5% and 14.2% of placentas associated with or without HDP, respectively, a significant difference (<i>P</i> < .0001). BCV was present in 6.0% and 3.9% of placentas with or without HDP, respectively, also a significant difference (<i>P</i> < .0001). BCV was more likely than multifocal/focal CV to occur in HDP (32.4% vs 27.4%) when all cases of CV were analyzed (<i>P</i> = .025). Of 221 placentas with MAP, 64% had multifocal/focal CV and 36% had BCV.</p><p><strong>Conclusions: </strong>BCV and CV are more common in placentas with HDP than in normotensive pregnancies. They are also seen in MAP, as supported by another recent study.</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":"334-339"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526619825708","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36871870","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":"Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life.","authors":"Lara Berklite,&nbsp;Selma F Witchel,&nbsp;Svetlana A Yatsenko,&nbsp;Francis X Schneck,&nbsp;Miguel Reyes-Múgica","doi":"10.1177/1093526618824469","DOIUrl":"https://doi.org/10.1177/1093526618824469","url":null,"abstract":"<p><p>45,X/46,XY mosaicism is one of a heterogenous group of congenital conditions known as differences (disorders) of sex development (DSD) that results in abnormal development of internal and external genitalia. Patients with DSD, particularly those with segments of the Y chromosome, are at increased risk for germ cell tumors including gonadoblastoma. Gonadoblastoma is a neoplasm comprised of a mixture of germ cells and elements resembling immature granulosa or Sertoli cells with or without Leydig cells or lutein-type cells in an ovarian type stroma. Gonadoblastoma has an increased prevalence of 15% to 40% in patients with 45,X/46,XY mosaicism and has been previously reported in patients as young as 5 months of age with that karyotype. Herein, we describe a 3-month-old child with 45,X/46,XY karyotype who was referred for the evaluation of asymmetric labia majora. Additional evaluation revealed left streak gonad and right dysplastic/dysgenetic testis. Both gonads contained foci of cells typical for gonadoblastoma as well as undifferentiated gonadal tissue, underscoring the potential for very early infantile gonadoblastoma and the spectrum of developmental anomalies associated with this karyotype.</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":"380-385"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618824469","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36866241","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":"Changes in the Prevalence of Embryologic Remnants in Umbilical Cord With Gestational Age.","authors":"Emma Grottling,&nbsp;David Gisselsson","doi":"10.1177/1093526618813663","DOIUrl":"https://doi.org/10.1177/1093526618813663","url":null,"abstract":"<p><p>The aim of this study was to examine the prevalence of embryologic remnants in umbilical cords of different gestational ages. Sections from 392 umbilical cords were examined using light microscopy. Of these, 52% contained at least 1 remnant, most commonly of the allantoic duct type. Although there was a significant decrease in vitelline duct remnants over increasing gestational age, from 11% at weeks 11-25 to 1.6% at weeks 36-42 (<i>P</i> = .009; χ² test), the allantoic duct remnants remained constant in prevalence irrespective of gestational age.</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":"288-291"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618813663","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36773309","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":"Kidney Biopsy Findings in a Patient With Valproic Acid-Associated Fanconi Syndrome.","authors":"Pamela Singer,&nbsp;Christine B Sethna,&nbsp;Laura Castellanos-Reyes,&nbsp;Oksana Yaskiv,&nbsp;Vanesa Bijol","doi":"10.1177/1093526618819334","DOIUrl":"https://doi.org/10.1177/1093526618819334","url":null,"abstract":"<p><p>A 7-year-old boy with a history of febrile illness-related epilepsy syndrome presented with proteinuria and elevated creatinine. His severe epileptic disorder has been treated since age 2 with multiple antiepileptic medications, including valproic acid. More recently, he was noted to have features of Fanconi syndrome with acidosis, hypophosphatemia, hypokalemia, glucosuria, and nephrotic-range proteinuria. This was managed with supplements; however, in the setting of rising creatinine and prominent proteinuria, a kidney biopsy was performed. Renal cortex revealed markedly decreased expression of proximal tubule markers and increased expression of markers of distal nephron differentiation. Such findings have been described in several genetic and acquired conditions, including renal tubular dysgenesis, severe hypoxic injury following renal artery stenosis, and toxic injury related to in utero exposure to angiotensin-converting-enzyme inhibitors. Such changes have not been reported before in valproic acid-associated Fanconi syndrome, although in general, morphologic findings in this condition have not been well established in the literature.</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":"370-374"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618819334","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36840279","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":"Prevalence, Morphology, Embryogenesis, and Diagnostic Utility of Umbilical Cord Vitelline Vascular Remnants.","authors":"James R Wright","doi":"10.1177/1093526618811734","DOIUrl":"https://doi.org/10.1177/1093526618811734","url":null,"abstract":"<p><p>The objective of this study is to better understand embryonic vitelline vascular remnants in the umbilical cord, to assess their prevalence, to categorize their morphology, and then finally to describe and assess inflammation arising from these structures. During routine placental sign out, the author noted the presence or absence of vitelline vessel remnants for 1 year; when present, he assessed their histologic patterns and noted whether there were neutrophils marginating from the remnants and into the adjacent Wharton's jelly and whether there was any other evidence of amniotic fluid infection in sections of placental disc, membranes, or cord. All cord sections with vitelline vessel remnants were immunostained for CD15 to document any infiltrates, to highlight patterns of infiltration, and to evaluate whether mild cases of umbilical phlebitis were associated with these lesions and were at risk of being missed. Vitelline vessel remnants were present in 4.2% of placentas examined. There were 5 vitelline vessel remnant histologic patterns identified providing insight into the vitelline vessel circulation. Funisitis, primarily neutrophilic, arising from vitelline vessel remnants was present in 70.3% of the 37 cords with vitelline vessel remnants. The presence of vitelline vessel remnant funisitis documents continued active circulation in these vascular structures, and vitelline vessel remnant funisitis was associated with the presence of other placental histological evidence of amniotic fluid infection in 53.8% of cases. The author also reviews normal embryology and the pathology of vitelline vessel remnants.</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":"279-287"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526618811734","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36773307","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":"Pathophysiological Mechanism of Extravasation via Umbilical Venous Catheters.","authors":"Beata Hargitai,&nbsp;Gergely Toldi,&nbsp;Tamas Marton,&nbsp;Velmurugan Ramalingam,&nbsp;Andrew K Ewer,&nbsp;Alison R Bedford Russell","doi":"10.1177/1093526619826714","DOIUrl":"https://doi.org/10.1177/1093526619826714","url":null,"abstract":"<p><p>A rare complication of umbilical venous catheter (UVC) insertion is the extravasation of the infusate into the peritoneal cavity. We report 3 cases of abdominal extravasation of parenteral nutrition (PN) fluid via UVCs. Two of these cases presented as \"acute abdomen\" which were assumed to be necrotizing enterocolitis clinically; however, during postmortem, PN ascites and liver necrosis were found. A further case is described in an infant with congenital diaphragmatic hernia. While we were unable to ascertain direct vessel perforation by the catheter in any of these cases, based on pathological and histological examination, the proposed mechanism of PN fluid extravasation is leakage through microinjuries of liver vessel walls and necrotic parenchyma. PN extravasation should be considered as a differential diagnosis of acute abdomen when PN is infused via an UVC presumably as PN may have a direct irritant effect on the peritoneum.</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":"340-343"},"PeriodicalIF":1.9,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1093526619826714","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36898506","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}