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Case Reports
. 2025 Apr;486(4):865-869.
doi: 10.1007/s00428-025-04071-z. Epub 2025 Mar 22.

DEK::AFF2 rearranged neoplasm with undifferentiated morphology and neuroendocrine phenotype in a pediatric patient

Emma Rullo  1   2 , Sabina Barresi  1 , Evelina Miele  3 , Alessandra Stracuzzi  1 , Debora De Pasquale  3 , Sara Patrizi  4 , Francesca Gianno  5 , Antonio d'Amati  5 , Cira Di Gioia  5 , Valentino Valentini  6 , Rita Alaggio  7   8
Affiliations
Case Reports

DEK::AFF2 rearranged neoplasm with undifferentiated morphology and neuroendocrine phenotype in a pediatric patient

Emma Rullo et al. Virchows Arch. 2025 Apr.

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.

Keywords: DEK:AFF2 rearranged; Head and neck carcinoma; Neuroendocrine; Pediatric; Squamous carcinoma; Undifferentiated neoplasm.

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Conflict of interest statement

Declarations. Ethics approval: Ethical approval is not required as this is a case report. All the clinical and pathologic investigations detailed in the manuscript have been conducted in accordance with the Declaration of Helsinki and its later amendments. Competing interests: The authors declare no competing interests. Patient consent statement: Informed consent for publication of data and images was obtained from the parents as the subject of the report is a minor. Permission to reproduce materials from other sources: No materials from other sources is reproduced within the submitted article. Clinical trial registration: Not applicable.

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