Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society最新文献_第6页

A Quantitative Assessment of Mucosal Eosinophils in the Gastrointestinal Tract of Children Without Detectable Organic Disease. 无器质性疾病儿童胃肠道粘膜嗜酸性粒细胞的定量评估。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-09-07 DOI: 10.1177/10935266211039474

Assaf Hoofien, Salvatore Oliva, Marcus Karl-Heinz Auth, Elena Brook, Carla Giordano, Vaia Zouzo, William Simmons, Danilo Rossetti, Rajeev Shukla, Luba Marderfeld, Noam Zevit

{"title":"A Quantitative Assessment of Mucosal Eosinophils in the Gastrointestinal Tract of Children Without Detectable Organic Disease.","authors":"Assaf Hoofien, Salvatore Oliva, Marcus Karl-Heinz Auth, Elena Brook, Carla Giordano, Vaia Zouzo, William Simmons, Danilo Rossetti, Rajeev Shukla, Luba Marderfeld, Noam Zevit","doi":"10.1177/10935266211039474","DOIUrl":"https://doi.org/10.1177/10935266211039474","url":null,"abstract":"Background: Accurate measurements of mucosal eosinophil concentrations in gastrointestinal tracts of healthy children are necessary to differentiate health and disease states in general, and better define eosinophilic gastrointestinal diseases.Study: We retrospectively reviewed gastrointestinal biopsies from children with macroscopically normal endoscopies, who, after a minimal follow-up of one year, were not diagnosed with any organic disease. Peak eosinophil concentrations and distributions were assessed from each segment of the gastrointestinal tract.Results: Three centers (Italy, United Kingdom, and Israel) contributed 202 patients (median age 13 years IQR 9.5-15.5, range 1-18 years). Median (IQR, range) eosinophil concentrations (eos/mm2) were: esophagus 0 (0-0, 0-84), stomach 0 (0-4, 0-84), duodenal bulb 20 (13-30, 7-67), second part of duodenum 20 (13-29, 0-105), terminal ileum 29 (14-51, 0-247), cecum 53 (37-89, 10-232), ascending colon 55 (25-84, 0-236), transverse colon 38 (21-67, 4-181), descending colon 29 (17-59, 0-114), sigmoid colon 25 (13-40, 0-215) and rectum 13 (4-28, 0-152). Significant geographical variance was present, however, no differences in eosinophil concentrations were identified between children with resolving symptoms vs. those with functional diagnoses, nor across age groups.Conclusions: Standardized eosinophil concentrations from the gastrointestinal tracts of children without organic disease will serve to better define both health and disease states. No differences were found between resolved symptoms vs. functional diagnoses nor between age groups in this pediatric cohort.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"99-106"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39392417","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}

引用次数: 0

PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas. PLAG1免疫组织化学染色是脂肪母细胞瘤中PLAG1融合的替代标志物。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-10-04 DOI: 10.1177/10935266211043366

Mikako Warren, Nishant Tiwari, Sabrina Sy, Gordana Raca, Ryan J Schmidt, Bruce Pawel

{"title":"PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas.","authors":"Mikako Warren, Nishant Tiwari, Sabrina Sy, Gordana Raca, Ryan J Schmidt, Bruce Pawel","doi":"10.1177/10935266211043366","DOIUrl":"https://doi.org/10.1177/10935266211043366","url":null,"abstract":"Background: The hallmark of lipoblastoma is a PLAG1 fusion. PLAG1 protein overexpression has been reported in sporadic PLAG1-rearranged lipoblastomas.Methods: We evaluated the utility of PLAG1 immunohistochemical staining (IHC) in 34 pediatric lipomatous tumors, correlating the results with histology and conventional cytogenetics, FISH and/or next generation sequencing (NGS) results.Results: The study included 24 lipoblastomas, divided into 2 groups designated as \"Lipoblastoma 1\" with both lipoblastoma histology and PLAG1 rearrangement (n = 16) and \"Lipoblastoma 2\" with lipoblastoma histology but without PLAG1 cytogenetic rearrangement (n = 8), and 10 lipomas with neither lipoblastoma histology nor a PLAG1 rearrangement. Using the presence of a fusion as the \"gold standard\" for diagnosing lipoblastoma (Lipoblastoma 1), the sensitivity of PLAG1 IHC was 94%. Using histologic features alone (Lipoblastoma 1 + 2), the sensitivity was 96%. Specificity, as defined by the ability to distinguish lipoma from lipoblastoma, was 100%, as there were no false positives in the lipoma group.Conclusions: Cytogenetics/molecular testing is expensive and may not be ideal for detecting PLAG1 fusions because PLAG1 fusions are often cytogenetically cryptic and NGS panels may not include all partner genes. PLAG1 IHC is an inexpensive surrogate marker of PLAG1 fusions and may be useful in distinguishing lipoblastomas from lipomas.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"134-140"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39480964","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}

引用次数: 1

Neonatal Myocardial Ischemia-Reperfusion Injury: A Proposed Pathogenic Sequence in the Context of Maternal/Fetal Vascular Malperfusion and Paradoxical Embolism. 新生儿心肌缺血再灌注损伤:在母体/胎儿血管灌注不良和矛盾栓塞的背景下提出的致病序列。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-09-22 DOI: 10.1177/10935266211042210

Elizabeth A Manci, Kalsang Dolma, Chaitra Manjunath, Shou-Shawn Liu, Carlos A Galliani, Ramachandra Bhat

{"title":"Neonatal Myocardial Ischemia-Reperfusion Injury: A Proposed Pathogenic Sequence in the Context of Maternal/Fetal Vascular Malperfusion and Paradoxical Embolism.","authors":"Elizabeth A Manci, Kalsang Dolma, Chaitra Manjunath, Shou-Shawn Liu, Carlos A Galliani, Ramachandra Bhat","doi":"10.1177/10935266211042210","DOIUrl":"https://doi.org/10.1177/10935266211042210","url":null,"abstract":"Background: Neonatal myocardial infarction (MI) in a structurally normal heart is frequently an obscure event that remains undiagnosed until autopsy. Causal attributions usually cite underlying maternal or fetal conditions. Refinement in understanding of pathogenic mechanisms underlying neonatal MI is key to advancements in diagnosis, prevention, treatments and prognosis.Objective: This study presents a 36-week gestational age female with perinatal asphyxia, congenital hemolytic anemia and umbilical vein thrombosis who sustained catastrophic MI with reperfusion injury; and it reviews pertinent literature.Results: We propose a pathogenic sequence that links maternal vascular malperfusion, fetal vascular malperfusion, hemolytic anemia, umbilical venous thrombosis, and paradoxical thromboemboli.Conclusion: This case highlights the importance of placental examination in connecting complex neonatal events with adverse maternal/placental conditions. A high index of suspicion is essential for early diagnosis of neonatal MI.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"162-167"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39441569","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}

引用次数: 1

Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11. 含ABCB11单等位基因2q24-32.2缺失的儿童肝内胆汁淤积、难治性癫痫、骨骼发育不良、内分泌衰竭和畸形特征

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-08-24 DOI: 10.1177/10935266211036084

Rodrigo Tzovenos Starosta, Jorge Luis Granadillo, Kalyani R Patel, Milton J Finegold, Janis Stoll, Sakil Kulkarni

{"title":"Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11.","authors":"Rodrigo Tzovenos Starosta, Jorge Luis Granadillo, Kalyani R Patel, Milton J Finegold, Janis Stoll, Sakil Kulkarni","doi":"10.1177/10935266211036084","DOIUrl":"https://doi.org/10.1177/10935266211036084","url":null,"abstract":"We report a newborn who presented with multiple limb and facial anomalies, endocrine disorders, and progressively worsening low-GGT cholestasis. A liver biopsy revealed hepatocellular cholestasis with giant cell transformation. Immunohistochemical staining revealed complete absence of BSEP protein compared to control liver. A large 2q24-32.2 deletion leading to loss of 78 OMIM genes. Multiple structural anomalies, epilepsy and endocrine anomalies have been described with hemizygous loss of these genes. This deletion also resulted in complete heterozygous deletion of ABCB11, which encodes the bile salt export pump (BSEP). Genetic analysis did not reveal any pathogenic variants, deletions, or duplications in the other ABCB11 allele. A heterozygous variant in NR1H4, which causes the autosomal recessive progressive familial intrahepatic cholestasis type 5, was also detected. The possible explanations for the PFIC type 2 phenotype in heterozygous loss of ABCB11 include genetic modifiers or di-genic disease with a compound ABCB11 deletion and an NR1H4 missense variant; or undetected pathogenic variants in the other ABCB11 or NR1H4 alleles.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"174-179"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39339301","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}

引用次数: 1

Giant Cell Myocarditis in Children: Elusive Giant Cells Might Not Be the Only Clue. 儿童巨细胞心肌炎:难以捉摸的巨细胞可能不是唯一的线索。

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Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-10-04 DOI: 10.1177/10935266211044952

Chrystalle Katte Carreon, Jonathon A Hagel, Kevin P Daly, Antonio R Perez-Atayde

引用次数: 0

Cerebral Abnormalities in Spina Bifida: A Neuropathological Study. 脊柱裂的脑异常:一项神经病理学研究。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-10-06 DOI: 10.1177/10935266211040500

Fabienne Paschereit, Kim Hannah Schindelmann, Michael Hummel, Joanna Schneider, Gisela Stoltenburg-Didinger, Angela M Kaindl

{"title":"Cerebral Abnormalities in Spina Bifida: A Neuropathological Study.","authors":"Fabienne Paschereit, Kim Hannah Schindelmann, Michael Hummel, Joanna Schneider, Gisela Stoltenburg-Didinger, Angela M Kaindl","doi":"10.1177/10935266211040500","DOIUrl":"https://doi.org/10.1177/10935266211040500","url":null,"abstract":"Introduction: Spina bifida (SB) is the most common neural tube defect in humans. Here, we analyzed systematically the neuropathological findings of the brain in SB cases.Methods: 79 cases with SB aperta (SBA) and 6 cases with SB occulta (SBO) autopsied at the Charité Neuropathology from 1974 to 2000 were re-evaluated retrospectively. For this, case files and spinal cord as well as brain sections were studied.Results: While no brain malformations were detected in SBO cases, 95% of SBA cases had brain malformations. Main brain anomalies identified were hydrocephalus (71%), Chiari II malformation (36%), heterotopia (34%), other cerebellar anomalies (36%), gyrification defects (33%), and ependymal denudation (29%). Hydrocephalus was observed as early as gestational week 17 and was highly associated to Chiari II and ependymal denudation. In 55% SBA was accompanied by further anomalies not primarily affecting the CNS.Conclusion: We confirm using neuropathologic methods brain malformations in most SBA but none in SBO cases. In addition to our previous radiologic study, we now demonstrate the high prevalence of cerebellar malformations and cerebral heterotopias in SBA. The early detection of hydrocephalus and Chiari II malformation in fetuses raises the question whether these arise parallel rather than in strict temporal sequence.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"107-123"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d4/7e/10.1177_10935266211040500.PMC9109215.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39490188","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}

引用次数: 0

Hodgkin Lymphoma Presenting With Spinal Cord Compression: Challenges for Diagnosis and Initial Management. 霍奇金淋巴瘤表现为脊髓压迫:诊断和初始管理的挑战。

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Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-08-24 DOI: 10.1177/10935266211033269

Nicola Bloxham, Justin Cross, Matthew Garnett, Jessica Bewick, Kate Armon, C Elizabeth Hook, Matthew J Murray

{"title":"Hodgkin Lymphoma Presenting With Spinal Cord Compression: Challenges for Diagnosis and Initial Management.","authors":"Nicola Bloxham, Justin Cross, Matthew Garnett, Jessica Bewick, Kate Armon, C Elizabeth Hook, Matthew J Murray","doi":"10.1177/10935266211033269","DOIUrl":"https://doi.org/10.1177/10935266211033269","url":null,"abstract":"Hodgkin lymphoma (HL) can present with extra-nodal disease, but spinal cord compression is exceptionally rare. We describe a 15-year-old presenting with hip/back pain with normal initial examination. Persistent pain and raised inflammatory markers prompted further investigation with MRI, which revealed an epidural mass causing spinal cord compression. On examination, there was no palpable lymphadenopathy or cauda equina syndrome, but absent lower limb reflexes were noted. Following multidisciplinary discussion, it was determined that cauda equina syndrome was imminent and therefore surgical debulking was undertaken, both to prevent this complication and establish a diagnosis. At surgery, the tumor was highly vascular. Frozen section confirmed lesional material. Following surgery, and given the frozen section findings, a short course of steroids was commenced to reduce any peri-surgical edema. Unfortunately, histopathology was ultimately non-diagnostic, due to failure of immunohistochemistry on technically challenging material. Consequently, ultrasound-guided excision biopsy of a (non-palpable) cervical lymph node was performed five days later; histopathology showed typical effacement of the normal architecture and a conspicuous population of CD15/CD30-positive larger pale cells present, confirming nodular sclerosis classic HL, despite recent steroids. We review the available literature for HL presenting with spinal cord compression and describe the challenges for diagnosis and initial management in such cases.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"168-173"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39339862","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}

引用次数: 2

Gene-Specific DNA Methylation Profiles in Pediatric Medulloblastomas. 儿童髓母细胞瘤基因特异性DNA甲基化谱。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-09-23 DOI: 10.1177/10935266211036680

Naz Kanit, Ozge Uysal Yoca, Dilek Ince, Nur Olgun, Erdener Ozer

{"title":"Gene-Specific DNA Methylation Profiles in Pediatric Medulloblastomas.","authors":"Naz Kanit, Ozge Uysal Yoca, Dilek Ince, Nur Olgun, Erdener Ozer","doi":"10.1177/10935266211036680","DOIUrl":"https://doi.org/10.1177/10935266211036680","url":null,"abstract":"Introduction: Medulloblastoma is the most common pediatric central nervous tumor of high malignancy that has been classified into both histological subtypes and molecular subgroups by the 2016 World Health Organization classification. However, there is a still need to understand the genomic characteristics and predict the clinical course. The aim of the study is to investigate the significance of the methylation profiles in molecular subclassification and precision medicine of the disease.Methods: The study enrolled 47 pediatric medulloblastoma patients. DNA methylation levels of KLF4, SPINT2, RASSF1A, EZH2, ZIC2, and PTCH1 genes were analyzed using methylation-specific pyrosequencing. The significance of the statistical relationship between methylation profiles and clinicopathological parameters including molecular subgroups and histological subtypes, the status of metastasis, and event-free survival were analyzed.Results: DNA methylation analysis demonstrated that KLF4, PTCH1, and ZIC2 hypermethylation were associated with the SHH-activated subgroup, whereas both SPINT2 and RASSF1A hypermethylation were associated with metastatic disease. EZH2 gene was not methylated in any of the samples.Conclusion: We think that customized DNA methylation profiling may be a useful tool in the molecular subclassification of pediatric medulloblastoma and a potential technical approach in precision medicine.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"82-90"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39444106","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}

引用次数: 0

Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy. 扩展脑颅皮脂肪病的表型谱:关于一个产前病例的完整尸检。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-09-22 DOI: 10.1177/10935266211040802

Julie Cattin, Justine Formet, Hervé Sartelet, Marion Lenoir, Didier Riethmuller, Sophie Collardeau-Frachon

{"title":"Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy.","authors":"Julie Cattin, Justine Formet, Hervé Sartelet, Marion Lenoir, Didier Riethmuller, Sophie Collardeau-Frachon","doi":"10.1177/10935266211040802","DOIUrl":"https://doi.org/10.1177/10935266211040802","url":null,"abstract":"Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome (MIM #613001) is a rare congenital neurocutaneous disorder. It is characterized by unilateral ocular, cutaneous and central nervous system anomalies. Key clinical features include hairless fatty tissue nevus of the scalp, choristoma of the eye and intraspinal and intracerebral lipomas. We report one of the first cases diagnosed after termination of pregnancy at 35 WG, including antenatal and post-mortem imaging, complete autopsy and genetic analysis. Prenatal ultrasound and MRI of the third trimester showed multifocal spinal lesions and left lateral cerebral ventriculomegaly with cerebral atrophy. Diagnosis of ECCL was suggested at complete autopsy which revealed nevus psiloliparus of the scalp, facial hamartomas and intracranial and spinal lipomas. In addition, our case also exhibited a cardiac rhabdomyoma and a multicystic dysplastic kidney, both never reported to date in this syndrome. ECCL was confirmed by the identification of a postzygotic FGFR1 mutation. We reviewed the literature and discuss the pathogenesis of this syndrome.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"180-185"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39437471","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}

引用次数: 0

Anaplastic Sarcoma of the Kidney With Heterologous Ganglioneuroblastic Differentiation: Another DICER1-Associated Tumor. 异源神经节神经母细胞分化肾间变性肉瘤:另一种dicer1相关肿瘤。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2022-03-01 Epub Date: 2021-09-13 DOI: 10.1177/10935266211043861

Lauren Kroll-Wheeler, Amer Heider

{"title":"Anaplastic Sarcoma of the Kidney With Heterologous Ganglioneuroblastic Differentiation: Another DICER1-Associated Tumor.","authors":"Lauren Kroll-Wheeler, Amer Heider","doi":"10.1177/10935266211043861","DOIUrl":"https://doi.org/10.1177/10935266211043861","url":null,"abstract":"Anaplastic sarcoma of the kidney (ASK) is a rare renal tumor for which less than thirty cases have been described in the literature to date. Diagnosis of ASK is primarily based on histology, which features solid spindle cell neoplastic islands arranged in a fascicular pattern, prominent anaplastic nuclear morphology, brisk mitoses, and multiple multiloculated cysts lined by hobnail epithelium reminiscent of cystic nephroma. Chondroid or rhabdomyocytic differentiation is often present within the sarcoma. It has been recently suggested that this tumor entity belongs to the DICER1 syndrome tumors based on identification of DICER1 mutations. We report on a case of this rare tumor found in a twenty-month-old female. In addition to the typical histologic findings of ASK, this case also displayed heterologous neuroblastic-gangliocytic differentiation, which has not been previously described in the literature. TP53 and BRAF v600E had aberrant immunostaining. Chromosomal microarray and genomic sequencing revealed loss of chromosome 10 p15.3-p11.2 and both somatic and germline DICER1 mutations, consistent with recent research and further supporting the classification of this tumor within the DICER1 syndrome associated tumors.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"186-191"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39414016","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}

引用次数: 6