{"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, Kris Ann Schultz, 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}
{"title":"Author(s)' Reply - Anaplastic Sarcoma of Kidney and DICER1.","authors":"Lauren Kroll-Wheeler, Amer Heider","doi":"10.1177/10935266221111626","DOIUrl":"https://doi.org/10.1177/10935266221111626","url":null,"abstract":"Thank you for your interest and comments regarding our manuscript on an anaplastic sarcoma of the kidney (ASK) with ganglioneuroblastic differentiation. As our knowledge of DICER 1-associated tumors continues to evolve, more cases have described neuroepithelial differentiation in different types of tumors after our initial report. Outside of the central nervous system, the cases with neuroepithelial differentiation included cervical and unusual congenital sacrococcygeal teratoid tumor. However, our report is the first to identify these morphological features within an ASK. As indicated, heterologous lines of morphological differentiation including cartilaginous and rhabdomyosarcomatous are well described observations within DICER1-assocated family of tumors. Unlike the other DICER1-associated tumors, our case did not display any rhabdomyosarcomatous differentiation despite careful histological examination and further investigation by immunohistochemical staining for desmin and myogenin. Chondroid differentiation has also been described in ASKs, although these elements were not present in our case. Consistent with previous reports, our tumor displayed aberrant p53 immunohistochemistry, but molecular analysis did not reveal any mutation in TP53. This event has been described by Wu et al.; six of the 9 ASKs with DICER1 mutations tested in their paper had aberrant p53 immunohistochemistry, but only 3 had TP53 mutations. Regardless, we agree that DICER1 mutational testing should be considered in tumors showing heterologous differentiation, especially those that display neuroepithelial, rhabdomyosarcomatous, cartilaginous, and/or anaplastic elements. Additionally, identifying these morphological patterns is important and can help in the recognition of recurrent tumors. Declaration of Conflicting Interests","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"575"},"PeriodicalIF":1.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40408762","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}
Aysegul Alpcan, Hacer Fulya Gülerman, Yaşar Kandur, Serkan Tursun, Mehmet Zengin
{"title":"The Effects of Colchicine on the Histopathological Findings of Celiac Disease During Familial Mediterranean Fever Treatment.","authors":"Aysegul Alpcan, Hacer Fulya Gülerman, Yaşar Kandur, Serkan Tursun, Mehmet Zengin","doi":"10.1177/10935266221077572","DOIUrl":"https://doi.org/10.1177/10935266221077572","url":null,"abstract":"<p><p>Familial mediterranean fever (FMF) and Celiac Disease (CD) are both autoinflammatory and autoimmune diseases with common clinical features affecting the gastrointestinal system. Familial mediterranean fever may coexist with CD. Inflammatory cells and cytokines are up-regulated within the intestinal mucosa of patients with CD. In this perspective, lymphocyte infiltration to the lamina propria of the small intestinal mucosa is a critical pathological sign. In the present study, we aimed to find out whether the treatment of an FMF patient with colchicine affects the pathological signs of concomitant developed CD on the same patient. We retrospectively reviewed the medical records of 147 patients with FMF who were followed up in our center between 2015 and 2020. Of the 147 patients with FMF, 3 patients also had CD. In this report, we presented these 3 cases. The findings obtained in this study suggest that pathological findings may be misinterpreted in autoimmune diseases, such as CD, when patients administer anti-inflammatory treatments, such as colchicine.</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":"470-473"},"PeriodicalIF":1.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40313134","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":"George A. Bannayan, MD (1931-2021), the man behind Bannayan-Riley-Ruvalcaba syndrome.","authors":"Teresa C Hayes","doi":"10.1177/10935266211061039","DOIUrl":"https://doi.org/10.1177/10935266211061039","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":"351"},"PeriodicalIF":1.9,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39704648","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}
Angela R Seasely, Rachel G Sinkey, Sarah Joy Dean, Maria Descartes, Virginia E Duncan
{"title":"Placental Pathology in Maternal Ornithine Transcarbamylase Deficiency.","authors":"Angela R Seasely, Rachel G Sinkey, Sarah Joy Dean, Maria Descartes, Virginia E Duncan","doi":"10.1177/10935266211055286","DOIUrl":"https://doi.org/10.1177/10935266211055286","url":null,"abstract":"<p><strong>Introduction: </strong>Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder, inherited in an X-linked manner. Males are severely affected. Female phenotypes vary from asymptomatic to severe, and symptoms may be triggered by high metabolic states like childbirth. Literature on OTC deficiency in pregnancy and placental pathology is limited.</p><p><strong>Methods: </strong>Pathology records were searched at a single referral center from 2000-2020 and identified three placental cases from two mothers heterozygous for OTC deficiency. Placental pathology and maternal and neonatal history were reviewed in detail.</p><p><strong>Results: </strong>The placenta from one symptomatic mother carrying an affected male fetus showed widespread high-grade fetal vascular malperfusion (FVM) lesions of varying age. These lesions were not seen in the two placentas from the asymptomatic mother.</p><p><strong>Discussion: </strong>In cases of symptomatic maternal OTC deficiency, our findings highlight the need for placental examination. Since thrombotic events in the placenta have the potential to associate with fetal and neonatal endothelial damage, a high index of suspicion for neonatal thrombosis may be warranted.</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":"278-284"},"PeriodicalIF":1.9,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39766982","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}
Nompumelelo Z Mtshali, Steven M Burgess, Salome Maswime, Colleen A Wright
{"title":"Placental Heterogeneity in Stillbirth and Its Relations to Maternal Exogenous Characteristics.","authors":"Nompumelelo Z Mtshali, Steven M Burgess, Salome Maswime, Colleen A Wright","doi":"10.1177/10935266211063118","DOIUrl":"https://doi.org/10.1177/10935266211063118","url":null,"abstract":"<p><strong>Introduction: </strong>Heterogeneous patterns of placental lesions in stillbirth signal important variations in placental histopathology that may be diagnostic in stillbirth. We explore placental heterogeneity and its associations with maternal characteristics (including HIV) using latent class analysis.</p><p><strong>Methods: </strong>Placental and maternal data and slides were assessed retrospectively for 122 confirmed stillbirths (gestational age ≥ 28 weeks) delivered at a major South African academic hospital between January 2016-July 2018. The slides were reviewed by 2 pathologists and classified using the Amsterdam Consensus Classification System. Latent class analyses were conducted on raw data.</p><p><strong>Results: </strong>We identify 5 latent placental classes in stillbirth based on similarity in patterns of observed diagnostic criteria and their associations with maternal characteristics. Three classes bear similarity to generalized patterns of placental injury identified previously. Our study shows that intrauterine infection was the commonest histopathological condition associated with stillbirth in our setting. Novel findings include 2 classes, distinguished by high placental RPH and maternal HIV, respectively, and the non-emergence of a class distinguished by VUE.</p><p><strong>Conclusion: </strong>The size and content of the latent classes and their similarity/dissimilarity to the more generalized patterns identified previously suggest potential new avenues for investigation and theory development concerning the role of the placenta in stillbirth and the impact of HIV.</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":"285-291"},"PeriodicalIF":1.9,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39769546","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}
Immanuel Pradeep, Kalpana Gowrishankar, Lakshmi Shanmugasundaram
{"title":"Lethal Restrictive Dermopathy with <i>ZMPSTE24</i> Mutation.","authors":"Immanuel Pradeep, Kalpana Gowrishankar, Lakshmi Shanmugasundaram","doi":"10.1177/10935266211065316","DOIUrl":"https://doi.org/10.1177/10935266211065316","url":null,"abstract":"<p><p>Lethal restrictive dermopathy is genodermatoses associated with lamin protein defects resulting in connective tissue abnormalities of skin, musculoskeletal, and adipose tissue. We report one such case with a mutation in the <i>ZMPSTE24</i> gene which is involved in lamin protein synthesis, resulting in fetal akinesia or hypokinesia deformation sequence. Early recognition in the perinatal period of distinctive clinical and skin histological features followed by molecular diagnosis enabled genetic counseling for the affected family.</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":"327-329"},"PeriodicalIF":1.9,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39769860","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}
Miriam R Conces, Sarah Beach, Christopher R Pierson, Vinay Prasad
{"title":"Submucosal Nerve Diameter in the Rectum Increases With Age: An Important Consideration for the Diagnosis of Hirschsprung Disease.","authors":"Miriam R Conces, Sarah Beach, Christopher R Pierson, Vinay Prasad","doi":"10.1177/10935266211049689","DOIUrl":"https://doi.org/10.1177/10935266211049689","url":null,"abstract":"<p><strong>Introduction: </strong>Hypertrophic submucosal nerves, defined as ≥40 µm in diameter, are considered supportive of a diagnosis of HSCR, but the effect of age on nerve diameter has not been well-studied. We sought to determine the distribution of the largest nerve diameter in ganglionic rectal biopsies and the significance of hypertrophic submucosal nerves in the diagnosis of Hirschsprung disease (HSCR) based on age.</p><p><strong>Methods: </strong>Rectal biopsies performed in the evaluation of HSCR were retrospectively reviewed from 179 patients (151 ganglionic biopsies, 28 aganglionic biopsies), and the diameter of the largest submucosal nerve was measured.</p><p><strong>Results: </strong>In non-Hirschsprung disease (non-HSCR) biopsies, submucosal nerve diameter increased with age. In patients <1 year, the average diameter was 34.1 ± 11.6 µm but increased to 50.8 ± 17.3 µm after 1 year of age. Submucosal nerves ≥40 µm in diameter were significantly associated with HSCR across all ages [HSCR = 25/28 (89.3%) vs non-HSCR = 59/151 (39.1%), p < 0.0001] and remained significant in patients <1 year of age [HSCR = 22/24 (91.7%) vs non-HSCR = 19/91 (20.9%), p < 0.0001].</p><p><strong>Conclusions: </strong>The diameter of submucosal nerves increases with age, and ≥40 µm nerves are common after 1 year of 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":"263-269"},"PeriodicalIF":1.9,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39901998","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}
Mark Quiring, Stacey Berry, John Uffman, Kirk Pinto, Jonathan Kaye
{"title":"Giant Multilocular Prostatic Cystadenoma in a 14-Year-Old Male: A Case Report of a Pediatric Pelvic Mass.","authors":"Mark Quiring, Stacey Berry, John Uffman, Kirk Pinto, Jonathan Kaye","doi":"10.1177/10935266211073291","DOIUrl":"https://doi.org/10.1177/10935266211073291","url":null,"abstract":"<p><p>Giant multilocular prostatic cystadenoma (GMC) is an extremely rare, benign tumor seen in both adult and pediatric males. The neoplasm originates from prostatic tissue and is typically found within the rectovesical pouch, varying in both size and morphology. Microscopically, GMC contains both glandular and cystic prostatic tissue lined by cuboidal and columnar epithelium. Symptoms often arise once the pelvic mass begins to obstruct the surrounding structures and organs, although invasion into surrounding tissue is unlikely. Common symptoms include abdominal pain, urinary retention, and dysuria. The standard treatment for GMC is surgical removal of the mass with good outcomes and only 1 known case of recurrence. Here we present the case of a 14-year-old male with GMC-the youngest patient reported to date-who presented with abdominal pain, difficulty voiding, and hydroureteronephrosis.</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":"334-338"},"PeriodicalIF":1.9,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39912267","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}