Emma Rullo, Sabina Barresi, Evelina Miele, Alessandra Stracuzzi, Debora De Pasquale, Sara Patrizi, Francesca Gianno, Antonio d'Amati, Cira Di Gioia, Valentino Valentini, Rita Alaggio
{"title":"DEK::AFF2 rearranged neoplasm with undifferentiated morphology and neuroendocrine phenotype in a pediatric patient.","authors":"Emma Rullo, Sabina Barresi, Evelina Miele, Alessandra Stracuzzi, Debora De Pasquale, Sara Patrizi, Francesca Gianno, Antonio d'Amati, Cira Di Gioia, Valentino Valentini, Rita Alaggio","doi":"10.1007/s00428-025-04071-z","DOIUrl":null,"url":null,"abstract":"<p><p>The advent of next-generation sequencing (NGS) has greatly enhanced the identification of morphologically and/or phenotypically unusual neoplasms. We report an undifferentiated carcinoma with a DEK::AFF2 fusion in a 13-year-old female from the head and neck region. DEK::AFF2 rearranged non-keratinizing squamous cell carcinoma (NKSCC) has been recognized as a distinct entity in the WHO classification of head and neck tumors, typically affecting adults. The case presented is unusual for both the patient's age and the undifferentiated morphology, which includes neuroendocrine immunophenotypic features, such as focal synaptophysin staining, dot-like cytokeratin expression, and only scattered cells positive for p63 and p40. Additional cases are needed to determine whether these features define a distinct subset of DEK::AFF2 rearranged neoplasms and to assess their potential correlation with a younger age of occurrence.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4000,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Virchows Archiv","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00428-025-04071-z","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
The advent of next-generation sequencing (NGS) has greatly enhanced the identification of morphologically and/or phenotypically unusual neoplasms. We report an undifferentiated carcinoma with a DEK::AFF2 fusion in a 13-year-old female from the head and neck region. DEK::AFF2 rearranged non-keratinizing squamous cell carcinoma (NKSCC) has been recognized as a distinct entity in the WHO classification of head and neck tumors, typically affecting adults. The case presented is unusual for both the patient's age and the undifferentiated morphology, which includes neuroendocrine immunophenotypic features, such as focal synaptophysin staining, dot-like cytokeratin expression, and only scattered cells positive for p63 and p40. Additional cases are needed to determine whether these features define a distinct subset of DEK::AFF2 rearranged neoplasms and to assess their potential correlation with a younger age of occurrence.
期刊介绍:
Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.