Pediatric and Developmental Pathology最新文献_第4页

Transnasal Endoscopy Acquires Esophageal Biopsies Adequate for Comprehensive Pathology Evaluation in Patients With Eosinophilic Esophagitis. 经鼻内窥镜检查获取的食管活检样本足以对嗜酸性粒细胞食管炎患者进行全面病理评估

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-05-25 DOI: 10.1177/10935266241255723

Oscar Lopez-Nunez, Anas Bernieh, Kara L Kliewer, Pratibha Kemtur, Scott M Bolton, Vincent A Mukkada, Ryan Schablein, Christopher Woods, Marc E Rothenberg, Margaret H Collins

{"title":"Transnasal Endoscopy Acquires Esophageal Biopsies Adequate for Comprehensive Pathology Evaluation in Patients With Eosinophilic Esophagitis.","authors":"Oscar Lopez-Nunez, Anas Bernieh, Kara L Kliewer, Pratibha Kemtur, Scott M Bolton, Vincent A Mukkada, Ryan Schablein, Christopher Woods, Marc E Rothenberg, Margaret H Collins","doi":"10.1177/10935266241255723","DOIUrl":"10.1177/10935266241255723","url":null,"abstract":"Background: Transnasal endoscopy (TNE) does not require general anesthesia, an attractive characteristic for monitoring eosinophilic esophagitis (EoE). We evaluated the adequacy of TNE-obtained esophageal biopsies using the EoE Histology Scoring System (EoEHSS).Methods: The Cincinnati Center for Eosinophilic Disorders database was searched for esophageal biopsies obtained by the same endoscopist, using either TNE or conventional endoscopy (CE). Whole-slide biopsy images were evaluated. The Mann-Whitney test was used for median (interquartile range) values and Fisher exact test for categorical variables. P ≤ .05 was considered significant.Results: Median age (P = .82) or height (P = .83) did not differ between TNE (n = 17) and CE (n = 17) groups. Although median largest piece size (mm2) differed between the groups (TNE: 0.59 (0.45, 0.86), CE: 2.24 (1.09, 2.82), P < .001), all 8 EoEHSS features were evaluated in each group; only 1 feature (lamina propria fibrosis) was missing in both groups (TNE: 19/34, CE: 11/34, P = .09). The median peak eosinophil count/high-power field differed (TNE: 3 (0, 29), CE: 16 (1, 66), P = .03), but overall grade (TNE: 0.17 (0.10, 0.29), CE: 0.22 (0.14, 0.46), P = .12), stage (TNE: 0.14 (0.10, 0.24), CE: 0.20 (0.10, 0.43), P = .15), and non-eosinophil-related individual EoEHSS scores did not differ.Conclusions: TNE- and CE-obtained esophageal biopsies are similarly sufficient for evaluation of key pathological features in EoE.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141094473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Decreased Alpha Klotho Expression in Placentas Exposed to Severe Maternal Vascular Malperfusion. 受严重母体血管灌注不良影响的胎盘中 Alpha Klotho 表达减少

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-06-22 DOI: 10.1177/10935266241259346

Andrew Franklin, Alexa Freedman, Ann Borders, Lauren Keenan Devlin, Erin S Proctor, Erica Price, Steve Cole, Greg Miller, Linda M Ernst

{"title":"Decreased Alpha Klotho Expression in Placentas Exposed to Severe Maternal Vascular Malperfusion.","authors":"Andrew Franklin, Alexa Freedman, Ann Borders, Lauren Keenan Devlin, Erin S Proctor, Erica Price, Steve Cole, Greg Miller, Linda M Ernst","doi":"10.1177/10935266241259346","DOIUrl":"https://doi.org/10.1177/10935266241259346","url":null,"abstract":"Background: Placental maternal vascular malperfusion (MVM) is characterized by accelerated villous maturation and has been associated with a decrease in the antiaging protein, alpha-klotho (AK). Our aim was to characterize AK protein and gene expression in the placenta and fetal organs.Methods: We utilized 2 cohorts. First, we characterized AK protein expression in an autopsy cohort where cases were defined as MVM as the cause of fetal death compared to a stillborn control population. Second, we characterized placental and umbilical cord blood AK gene expression in a liveborn population with and without MVM.Results: We found decreased protein expression in the villous trophoblastic cells of placentas exposed to severe MVM and decreased AK gene expression in placental tissue exposed to MVM. We did not see any statistically significant differences in fetal organ or umbilical cord blood AK expression based on the presence or absence of MVM. Furthermore, in liveborn infants, we also found increased odds of preterm birth with lower placental AK expression.Conclusions: Decreased AK gene and protein expression in the placenta in the setting of MVM is consistent with the theory of placental aging in MVM and is associated with increased odds of preterm birth.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Variable Definition of "Negative Appendicitis" Remains a Surgical Challenge. 阴性阑尾炎 "的多变定义仍是外科手术的挑战。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-06-06 DOI: 10.1177/10935266241255281

Hetal Patel, Mohamed Kamel, Eden Cooper, Claire Bowen, Ingo Jester

{"title":"The Variable Definition of \"Negative Appendicitis\" Remains a Surgical Challenge.","authors":"Hetal Patel, Mohamed Kamel, Eden Cooper, Claire Bowen, Ingo Jester","doi":"10.1177/10935266241255281","DOIUrl":"https://doi.org/10.1177/10935266241255281","url":null,"abstract":"Aim: Acute appendicitis (AA) is treated primarily surgically with histopathology being the gold standard for confirmation of appendicitis and reported rates of negative appendicectomies (NA) ranging between 3.2% and 19% worldwide and 15.9-20.6% in the UK. NA rates are frequently used to identify poor performing centers as part of a Model Health System and form an integral part of appendicitis scoring systems. This study aims to evaluate the prevalence of negative appendicectomies within our institution and critically analyze the appropriateness of its use as a quality metric and its impact on clinical practice and research.Patients and methods: Data analysis from a prospective dataset of pediatric appendicitis patients between 2015 and 2021 in a tertiary center in the UK was performed. Detailed analysis of negative appendicectomies was performed and further stratified by two distinct age and gender groups looking at the incidence of NA and the classification of non-histologically normal appendix specimens.Results: In our series, 819 patients met inclusion criteria, 736 (89.9%) had acute appendicitis. Our overall institutional negative appendicectomy rate was 10.1% (83 patients) with the breakdown as follows: 65 histologically normal appendix (7.9%), 10 Enterobius vermicularis, 3 eosinophilic appendicitis, 2 neoplasms, 1 isolated faecolith, 1 fibrous obliteration of the lumen, and 1 peri-appendiceal inflammation.Conclusion: Our negative appendicectomy rate is below established UK pediatric NA rates. This rate ranges from 7.9% to 10.1% depending on the definition of NA utilized. A single standard pathological definition for histological acute appendicitis is required when being used as a comparative quality metric. Centers engaged in clinical research should be aware of variations in NA definitions both in scoring systems and individual centers to avoid skewing derived results.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141285442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Primary Intraosseous Spindle Cell Rhabdomyosarcoma: A Case Report in an Unusual Location. 原发性骨内纺锤细胞横纹肌肉瘤：罕见部位的病例报告

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-06-06 DOI: 10.1177/10935266241257547

Jaclyn M Plotzke, Raja Rabah, Dan R Robinson, Amy Edmonds, David A Bloom, Rajen Mody, Amer Heider

{"title":"Primary Intraosseous Spindle Cell Rhabdomyosarcoma: A Case Report in an Unusual Location.","authors":"Jaclyn M Plotzke, Raja Rabah, Dan R Robinson, Amy Edmonds, David A Bloom, Rajen Mody, Amer Heider","doi":"10.1177/10935266241257547","DOIUrl":"https://doi.org/10.1177/10935266241257547","url":null,"abstract":"Spindle cell/sclerosing rhabdomyosarcoma is an infrequent subtype of rhabdomyosarcoma according to the World Health Organization Classification of Soft Tissue and Bone Tumours, which includes a novel category of intraosseous spindle-cell rhabdomyosarcomas (ISCRMS) with EWSR1:: or FUS::TFCP2 fusions. We report a case of ISCRMS with EWSR1::TFCP2 fusion presenting in the femur mimicking osteosarcoma in this unusual primary location. We present an 18-year-old male with relapsed widely metastatic sarcoma, morphologically identical to osteosarcoma responding poorly to chemotherapy, initially presenting in the distal femur. Sections showed a high-grade malignant neoplasm with sheets of epithelioid and spindled cells without obvious rhabdomyoblastic differentiation morphologically containing focal areas resembling new bone/osteoid formation. Molecular sequencing identified t(12;22) EWSR1::TFCP2. The tumor cells were diffusely positive for pancytokeratin, MyoD1, and ALK by retrospective immunohistochemistry. Desmin and SATB2 were focally positive. Myogenin was negative, and INI-1 expression was retained. ISCRMS commonly involves craniofacial and pelvic bones, but rarely originates in long bones, as in this case. Initially, osteosarcoma was the primary diagnostic consideration based on distal long bone location, patient age, and evidence of osteoid formation. Distinction between the two entities may be nearly impossible on morphologic grounds alone, which presents a diagnostic pitfall without molecular or extensive immunoprofiling data.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141285441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Rare Case of Early T-Precursor Lymphoblastic Lymphoma (ETP-LBL) in a Child With Nijmegen Breakage Syndrome. 奈梅亨断裂综合征患儿罕见的早期 T 前体淋巴母细胞淋巴瘤（ETP-LBL）病例。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-25 DOI: 10.1177/10935266241255277

Kristina R Brannock, Samir B Kahwash

引用次数: 0

Triaging and Evaluation of Products of Conception in Abortions and Post-Partum Hemorrhage. 人工流产和产后出血受孕产物的分流和评估。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-25 DOI: 10.1177/10935266241255981

Philip J Katzman, Jonathan L Hecht

引用次数: 0

Decoding BCOR-ITD Sarcomas: Case Report of a Rare Pediatric Tumor With Challenges in Diagnosis. 解码 BCOR-ITD 肉瘤：一种罕见儿科肿瘤的病例报告与诊断挑战。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-19 DOI: 10.1177/10935266241249344

Emilio Medina-Ceballos, María Niveiro, Laura Ureña-Horno, Marta Sesé, María Tasso, Samuel Navarro, Marta Garrido-Pontnou

{"title":"Decoding BCOR-ITD Sarcomas: Case Report of a Rare Pediatric Tumor With Challenges in Diagnosis.","authors":"Emilio Medina-Ceballos, María Niveiro, Laura Ureña-Horno, Marta Sesé, María Tasso, Samuel Navarro, Marta Garrido-Pontnou","doi":"10.1177/10935266241249344","DOIUrl":"https://doi.org/10.1177/10935266241249344","url":null,"abstract":"Sarcomas characterized by BCOR gene alterations, are a distinct clinico-pathological group of high-grade tumors, that represent 5% of small round cell tumors without EWSR or FUS fusion. Diverse genetic alterations characterize this group, including BCOR-CCNB3 gene fusion being the most common alteration and less frequently internal tandem duplications (ITDs). We present a compelling case of a 3-year-old girl diagnosed with a high-grade nasoethmoidal sarcoma exhibiting BCOR-ITD. The diagnostic process illustrates the histological and immunophenotypic spectrum, requiring an extensive immunohistochemical panel and diverse molecular tests for accurate classification. Additionally, this case highlights the challenges in detecting BCOR-ITDs using different NGS panels, advocating for alternative molecular approaches. Our patient after 10 months since diagnosis is alive with progressive disease. This emphasizes the urgency for ongoing research to refine diagnostic methods and develop effective therapeutic strategies for these rare and aggressive tumors.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Connection Between Anatomical Substrate and Clinical Severity in Fetal Ebstein Anomaly. 胎儿爱博斯坦畸形的解剖基础与临床严重程度之间的联系

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-19 DOI: 10.1177/10935266241250235

Sara Coacci, Erin L J Alston, Takato Yamasaki, Christina Ronai, Stephen P Sanders, Chrystalle Katte Carreon

引用次数: 0

Author(s)' Reply: Is MYCN Overexpression Associated With Poor Outcome in MYCN Non-Amplified Neuroblastomas? 作者回复：MYCN过表达与MYCN非扩增神经母细胞瘤的不良预后有关吗？

IF 1.3 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-02-15 DOI: 10.1177/10935266231221898

Manli Zhao, Yan Shu, Weizhong Gu, Hongfeng Tang, Jianhua Mao

引用次数: 0

Gastrointestinal Tract Granular Cell Tumor in the Pediatric Population: A Multicenter Experience. 儿科胃肠道颗粒细胞瘤：多中心经验。

IF 1.9 4区医学

Pediatric and Developmental Pathology Pub Date : 2024-05-01 Epub Date: 2024-01-05 DOI: 10.1177/10935266231220472

Muhammad Shaheen, Benjamin J Wilkins, Archana Shenoy, Kathleen Byrnes, Xiaoyi Tina Zhang, Iván A González

{"title":"Gastrointestinal Tract Granular Cell Tumor in the Pediatric Population: A Multicenter Experience.","authors":"Muhammad Shaheen, Benjamin J Wilkins, Archana Shenoy, Kathleen Byrnes, Xiaoyi Tina Zhang, Iván A González","doi":"10.1177/10935266231220472","DOIUrl":"10.1177/10935266231220472","url":null,"abstract":"Background: Pediatric granular cell tumors (GCT) involving the gastrointestinal tract (GIT) are rare with limited case report/series reported to date.Methods: Multicenter retrospective study of pediatric GIT GCT.Results: A total of 10 cases were included in the study with a median age of 13.5 years (range: 7-18 years) and were predominantly female patients (60%). In half of the patients no significant medical history was present with the remaining 5 having Crohn disease (10%), eosinophilic esophagitis (EoE) (10%), Crohn disease and EoE (10%), growth hormone deficiency (10%), and aplasia cutis congenita (10%). The GCT median size was 1.3 cm (range: 1-1.6 cm) and were more commonly located in the esophagus (70%) followed by the stomach (20%) and rectum (10%). Most of the cases showed round/polygonal tumor cells with abundant granular cytoplasm, and none of the cases had nuclear atypia, increased mitotic activity, or tumor cell necrosis. None of our cases received specific therapy for GCT other than clinical follow-up, and none of the patients had evidence of local recurrence or metastatic disease.Conclusion: We present our multicenter experience with GIT GCT, all cases had a benign course. Interestingly, 4 of the esophageal GCT cases (including 2 patients with EoE) showed an eosinophil-rich esophagitis in the underlying mucosa.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139099149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0