Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society最新文献_第7页

Cellular Fibroma of Tendon Sheath With Novel TNC-USP6 Gene Fusion Clinically Mimicking Arthritis in a 7-Year-Old Boy. 新型TNC-USP6基因融合的7岁男孩肌腱鞘细胞纤维瘤临床模拟关节炎。

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: 2021-09-14 DOI: 10.1177/10935266211043869

Joshua M Eisenberg, Joseph A Buckwalter V, Anthony N Snow, Jonathan Davick

{"title":"Cellular Fibroma of Tendon Sheath With Novel TNC-USP6 Gene Fusion Clinically Mimicking Arthritis in a 7-Year-Old Boy.","authors":"Joshua M Eisenberg, Joseph A Buckwalter V, Anthony N Snow, Jonathan Davick","doi":"10.1177/10935266211043869","DOIUrl":"https://doi.org/10.1177/10935266211043869","url":null,"abstract":"Cellular fibroma of tendon sheath (CFTS) is a rare, benign myofibroblastic neoplasm of tenosynovial soft tissues closely resembling nodular fasciitis (NF), but is histomorphologically distinct from classic fibroma of tendon sheath (FTS). We report a case of a pediatric patient with thumb swelling clinically concerning for arthritis with a biopsy demonstrating myofibroblastic proliferation with features consistent with NF/CFTS, and molecular studies confirming the presence of a USP6 gene fusion (TNC-USP6). This case highlights a unique clinical presentation of CFTS in a pediatric patient mimicking an inflammatory or reactive/non-neoplastic musculoskeletal disorder and the increasingly crucial role of molecular testing to differentiate a reactive myofibroblastic process from a neoplasm. Moreover, this report identifies TNC as a new fusion partner to USP6 fusion partner adding to our growing understanding of the USP6-rearranged family of 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":"192-196"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39416151","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: 2

Secretory Carcinoma in Children and Young Adults: A Case Series. 儿童和年轻人的分泌性癌:一个病例系列。

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: 2021-10-04 DOI: 10.1177/10935266211046996

Caroline T Simon, Jonathan B McHugh, Raja Rabah, Amer Heider

{"title":"Secretory Carcinoma in Children and Young Adults: A Case Series.","authors":"Caroline T Simon, Jonathan B McHugh, Raja Rabah, Amer Heider","doi":"10.1177/10935266211046996","DOIUrl":"https://doi.org/10.1177/10935266211046996","url":null,"abstract":"Secretory carcinoma (SC), previously known as mammary analogue secretory carcinoma, is a rare salivary gland neoplasm that typically presents as a slow-growing painless lesion in the head and neck. SC occurs mainly in adults but has been described in children with the youngest reported patient diagnosed at five years of age. In children the gender distribution has been reported as female to male ratio of 1:1.2. SC is generally considered a low-grade malignancy with characteristic morphological features and immunological profile. SC also harbors ETV6-NTRK3 fusion (t(12;15)(p13:q25)). Surgical resection with or without lymph node dissection is the standard treatment, with generally favorable clinical outcomes. Here we present a single institution case series of six patients (ages 9-21) with SC and a review of the previously described pediatric cases. Our small series showed male predominance in pediatric patients with predominantly low-grade and stage tumors. All cases underwent complete surgical resections and when follow up is available there was no evidence of recurrences or metastases. To the best of our knowledge, this is the only SC case series comprised exclusively of pediatric and youth patients.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"155-161"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39484312","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: 2

Prostatic Rhabdomyoma in a Toddler: A Case Report With Molecular Characterization. 幼儿前列腺横纹肌瘤:1例分子表征报告。

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: 2021-10-12 DOI: 10.1177/10935266211046926

Paola X De la Iglesia Niveyro, J Pandolfi, F Jauk, T Kreindel, P Lobos

引用次数: 2

Multiple Immunofluorescence Imaging Analysis Reveals Differential Expression of Disialogangliosides GD3 and GD2 in Neuroblastomas. 多重免疫荧光成像分析揭示双异神经节苷脂GD3和GD2在神经母细胞瘤中的差异表达。

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: 2021-10-21 DOI: 10.1177/10935266211048733

Haruna Nishimaki, Yoko Nakanishi, Hiroshi Yagasaki, Shinobu Masuda

{"title":"Multiple Immunofluorescence Imaging Analysis Reveals Differential Expression of Disialogangliosides GD3 and GD2 in Neuroblastomas.","authors":"Haruna Nishimaki, Yoko Nakanishi, Hiroshi Yagasaki, Shinobu Masuda","doi":"10.1177/10935266211048733","DOIUrl":"https://doi.org/10.1177/10935266211048733","url":null,"abstract":"Background Peripheral neuroblastic tumors (pNTs) are the most common childhood extracranial solid tumors. There are several therapeutic strategies targeting disialoganglioside GD2. Disialoganglioside GD3 has become a potential target. However, the mechanism by which pNTs express GD3 and GD2 remains unclear. We investigated the combined expression status of GD3 and GD2 in pNTs and delineated their clinicopathological values. Methods GD3 and GD2 expression was examined in pNT tissue samples (n = 35) using immunohistochemistry and multiple immunofluorescence imaging. Results GD3 and GD2 expression was positive in 32/35 and 25/35 samples, respectively. Combinatorial analysis of GD3 and GD2 expression in neuroblastoma showed that both were heterogeneously expressed from cell to cell. There were higher numbers of GD3-positive and GD2-negative cells in the low-risk group than in the intermediate-risk (P = 0.014) and high-risk (P = 0.009) groups. Cases with high proportions of GD3-positive and GD2-negative cells were associated with the International Neuroblastoma Staging System stage (P = 0.004), Children’s Oncology Group risk group (P = 0.001), and outcome (P = 0.019) and tended to have a higher overall survival rate. Conclusion We demonstrated that neuroblastomas from low-risk patients included more GD3-positive and GD2-negative cells than those from high-risk patients. Clarifying the heterogeneity of neuroblastoma aids in better understanding the biological characteristics and clinical behavior.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"141-154"},"PeriodicalIF":1.9,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39537892","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: 2

Extensive Perivillous Fibrin and Intervillous Histiocytosis in a SARS-CoV-2 Infected Placenta From an Uninfected Newborn: A Case Report Including Immunohistochemical Profiling. 来自未感染新生儿的SARS-CoV-2感染胎盘中广泛的绒毛周围纤维蛋白和绒毛间组织细胞增生:包括免疫组织化学分析的病例报告

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2021-11-01 Epub Date: 2021-06-28 DOI: 10.1177/10935266211025122

James Roberts, Jeanette D Cheng, Elizabeth Moore, Carla Ransom, Minhui Ma, Beverly B Rogers

{"title":"Extensive Perivillous Fibrin and Intervillous Histiocytosis in a SARS-CoV-2 Infected Placenta From an Uninfected Newborn: A Case Report Including Immunohistochemical Profiling.","authors":"James Roberts, Jeanette D Cheng, Elizabeth Moore, Carla Ransom, Minhui Ma, Beverly B Rogers","doi":"10.1177/10935266211025122","DOIUrl":"https://doi.org/10.1177/10935266211025122","url":null,"abstract":"Placental infection by SARS-CoV-2 with various pathologic alterations reported. Inflammatory findings, such as extensive perivillous fibrin deposition and intervillous histiocytosis, have been postulated as risk factors for fetal infection by SARS-CoV-2. We describe the placental findings in a case of a 31-year-old mother with SARS-CoV-2 infection who delivered a preterm female neonate who tested negative for SAR-CoV2 infection. Placental examination demonstrated a small for gestational age placenta with extensive intervillous histiocytosis, syncytiotrophoblast karyorrhexis, and diffuse intervillous fibrin deposition. Immunohistochemical staining demonstrated infection of the syncytiotrophoblasts by SARS-CoV-2 inversely related to the presence of intervillous histiocytes and fibrin deposition. Our case demonstrates that despite extensive placental pathology, no fetal transmission of SARS-CoV-2 occurred, as well as postulates a relationship between placental infection, inflammation, and fibrin deposition.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"581-584"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/10935266211025122","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39111213","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: 5

Examining the Relationship Between Gastroschisis and Placental Fetal Vascular Malperfusion. 胃裂伤与胎盘胎儿血管灌注不良关系的探讨。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2021-11-01 Epub Date: 2021-07-21 DOI: 10.1177/10935266211029629

Brittany Ruschkowski, Ahmed Nasr, Irina Oltean, Sarah Lawrence, Dina El Demellawy

{"title":"Examining the Relationship Between Gastroschisis and Placental Fetal Vascular Malperfusion.","authors":"Brittany Ruschkowski, Ahmed Nasr, Irina Oltean, Sarah Lawrence, Dina El Demellawy","doi":"10.1177/10935266211029629","DOIUrl":"https://doi.org/10.1177/10935266211029629","url":null,"abstract":"Introduction: Gastroschisis is a congenital malformation characterized by intestinal herniation through an abdominal wall defect. Despite its unknown pathogenesis, known risk factors include maternal smoking, alcohol use, and young maternal age. Previous work has shown that gastroschisis is associated with placental delayed villous maturation, and the goal of this study was to assess for additional associated placental pathologies that may help clarify the pathogenesis of gastroschisis.Methods: We conducted a retrospective slide review of 29 placentas of neonates with gastroschisis. Additionally, we reviewed pathology reports from one control group of 30 placentas with other congenital malformations. Gross and histological data were collected based on a standardized rubric.Results: Gastroschisis was associated with increased placental fetal vascular malperfusion (FVM) in 62% of cases (versus 0% of controls, p < 0.0001). It was also associated with increased placental villous maldevelopment in 76% of cases (versus 3% of controls, p < 0.0001).Conclusion: Our study demonstrates an association between gastroschisis and FVM. While FVM could be the consequence of vascular disruption due to the ventral location of gastroschisis, it could also reflect estrogen-induced thrombosis in early pregnancy. Further research is needed to separate these possibilities and determine the cause of the placental FVM observed in gastroschisis.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"531-541"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/10935266211029629","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39202639","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

Complete Hydatidiform Mole and Coexisting Fetus With Gastroschisis: A Case Report Highlighting the Importance of Diagnostic Genotyping. 完全葡萄胎和腹肌裂并存胎儿:1例报告强调诊断基因分型的重要性。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2021-11-01 Epub Date: 2021-06-16 DOI: 10.1177/10935266211024823

Austin McHenry, Urania Magriples, Pei Hui, Raffaella Morotti

引用次数: 2

Abstracts of the 2021 Fall Meeting. 2021年秋季会议摘要。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2021-11-01 Epub Date: 2021-11-05 DOI: 10.1177/10935266211057428

引用次数: 0

Granulomatous Lymphocytic Interstitial Lung Disease in a Spectrum of Pediatric Primary Immunodeficiencies. 儿童原发性免疫缺陷谱系中的肉芽肿性淋巴细胞间质性肺病。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2021-11-01 Epub Date: 2021-06-28 DOI: 10.1177/10935266211022528

Aleksandra Szczawinska-Poplonyk, Katarzyna Jonczyk-Potoczna, Marcin Mikos, Lidia Ossowska, Renata Langfort

{"title":"Granulomatous Lymphocytic Interstitial Lung Disease in a Spectrum of Pediatric Primary Immunodeficiencies.","authors":"Aleksandra Szczawinska-Poplonyk, Katarzyna Jonczyk-Potoczna, Marcin Mikos, Lidia Ossowska, Renata Langfort","doi":"10.1177/10935266211022528","DOIUrl":"https://doi.org/10.1177/10935266211022528","url":null,"abstract":"Background: Granulomatous lymphocytic interstitial lung disease (GLILD) has been increasingly recognized in children affected with primary immunodeficiencies (PIDs). In this study, we aimed to better characterize the spectrum of pediatric PIDs coexisting with GLILD including clinical and immunological predictors, thoracic imaging findings, and histopathologic features.Methods: We respectively reviewed records of six representative cases of children, three of them affected with common variable immunodeficiency (CVID) and three with syndromic immunodeficiencies, in whom a diagnosis of GLILD was established based on clinical, radiological, and histopathologic findings. Clinical and immunological predictors for GLILD were also analyzed in the patients studied.Results: All the children with GLILD had a history of autoimmune phenomena, organ-specific immunopathology, and immune dysregulation. Defective B-cell maturation and deficiency of memory B cells were found in all the children with GLILD. The radiological and histopathological features consistent with the diagnosis of GLILD, granulomatous disease, and lymphoid hyperplasia, were accompanied by chronic airway disease with bronchiectasis in children with CVID and syndromic PIDs.Conclusions: Our study shows that both CVID and syndromic PIDs may be complicated with GLILD. Further studies are required to understand the predictive value of coexisting autoimmunity and immune dysregulation in the recognition of GLILD in children with PIDs.","PeriodicalId":520743,"journal":{"name":"Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society","volume":" ","pages":"504-512"},"PeriodicalIF":1.9,"publicationDate":"2021-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/10935266211022528","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39131714","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: 4

Pediatric Extra-Axial Chordoma: Case Report and Literature Review. 小儿轴外脊索瘤:1例报告及文献回顾。

IF 1.9

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Pub Date : 2021-11-01 Epub Date: 2021-06-28 DOI: 10.1177/10935266211027429

Sean Lee, Jennifer L Halpern, Jiancong Liang

引用次数: 1