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DEK-AFF2 fusion-associated papillary squamous cell carcinoma of the sinonasal tract: clinicopathologic characterization of seven cases with deceptively bland morphology.
Kuo, Ying-Ju; Lewis, James S; Zhai, Changwen; Chen, Yun-An; Chernock, Rebecca D; Hsieh, Min-Shu; Lan, Ming-Ying; Lee, Chien-Kuan; Weinreb, Ilan; Hang, Jen-Fan.
Afiliación
  • Kuo YJ; Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Lewis JS; School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
  • Zhai C; Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Chen YA; Department of Otolaryngology - Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Chernock RD; Department of Pathology, Eye, Ear, Nose and Throat Hospital, Fudan University, Shanghai, China.
  • Hsieh MS; Department of Pathology and Laboratory Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
  • Lan MY; Department of Pathology and Immunology, Washington University in St. Louis, St. Louis, MO, USA.
  • Lee CK; Department of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
  • Weinreb I; Graduate Institute of Pathology, National Taiwan University College of Medicine, Taipei, Taiwan.
  • Hang JF; School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Mod Pathol ; 34(10): 1820-1830, 2021 10.
Article en En | MEDLINE | ID: mdl-34108636
A novel DEK-AFF2 fusion has been recently identified in four cases of basaloid to nonkeratinizing squamous cell carcinoma (SCC) in the sinonasal tract and middle ear with high-grade morphology. The exceptional response to immune checkpoint inhibitor in the first reported case highlights the potential clinical importance of identifying tumors with DEK-AFF2 fusions. We herein reported the first series of seven cases of DEK-AFF2 fusion-associated sinonasal SCC with deceptively bland morphology, including four cases of low-grade papillary Schneiderian carcinoma, which is a recently described tumor type with unknown molecular underpinnings. The DEK gene rearrangement was confirmed by DEK break-apart fluorescence in situ hybridization and DEK-AFF2 fusion transcripts were detected by reverse transcription polymerase chain reaction. In contrast to the previously reported DEK-AFF2 fusion-positive high-grade carcinomas, these tumors had a monotonous and bland morphology and were all initially diagnosed as sinonasal papilloma (SP) of various types, with or without dysplasia or carcinoma in situ. The tumor was characterized by mixed exophytic and inverted patterns, broad papillary fronds, acantholytic change, cellular monotony, dense neutrophilic infiltrates, and peripheral palisading. All tumors were diffusely positive for p40 or p63 and negative for NUT and p16. Molecular drivers associated with SP, including EGFR and KRAS mutations and both high and low-risk human papillomavirus infection, were negative in all cases. Although there was no overt stromal invasion or desmoplastic reaction in the initial specimens, these tumors tended to progress locoregionally through a prolonged clinical course and occasionally develop lymph node metastases, high-grade transformation, or extensively local destruction eventually leading to death. These justify more aggressive clinical management. Therefore, we propose the new terminology "DEK-AFF2 fusion-associated papillary SCC of the sinonasal tract" to better describe this clinicopathologically and molecularly distinct entity.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Proteínas Cromosómicas no Histona / Carcinoma Papilar / Proteínas de Fusión Oncogénica / Neoplasias Nasofaríngeas / Proteínas Oncogénicas / Proteínas de Unión a Poli-ADP-Ribosa / Carcinoma de Células Escamosas de Cabeza y Cuello Tipo de estudio: Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Mod Pathol Asunto de la revista: PATOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Proteínas Cromosómicas no Histona / Carcinoma Papilar / Proteínas de Fusión Oncogénica / Neoplasias Nasofaríngeas / Proteínas Oncogénicas / Proteínas de Unión a Poli-ADP-Ribosa / Carcinoma de Células Escamosas de Cabeza y Cuello Tipo de estudio: Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Mod Pathol Asunto de la revista: PATOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Estados Unidos