Rullo Emma, Barresi Sabina, Miele Evelina, Stracuzzi Alessandra, De Pasquale Debora, Patrizi Sara, Gianno Francesca, d'Amati Antonio, Di Gioia Cira, Valentini Valentino, Alaggio Rita
Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
Virchows Arch. 2025 Apr;486(4):865-869. doi: 10.1007/s00428-025-04071-z. Epub 2025 Mar 22.
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.
下一代测序（NGS）的出现极大地促进了对形态学和/或表型异常肿瘤的识别。我们报告了一名来自头颈部区域的13岁女性患有DEK::AFF2融合的未分化癌。DEK::AFF2重排的非角化鳞状细胞癌（NKSCC）已被世界卫生组织头颈部肿瘤分类确认为一种独特的实体，通常影响成年人。该病例在患者年龄和未分化形态方面都很不寻常，其形态包括神经内分泌免疫表型特征，如局灶性突触素染色、点状细胞角蛋白表达，以及只有散在细胞p63和p40呈阳性。需要更多病例来确定这些特征是否定义了DEK::AFF2重排肿瘤的一个独特亚组，并评估它们与发病年龄较轻之间的潜在关联。
