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DEK::AFF2 Fusion-Associated Squamous Cell Carcinoma: A Case Series with Literature Review on an Emerging and Challenging Entity.
Amin, Sara E; Lewis, James S; Bridge, Julia A; Hang, Jen-Fan; Naik, Udit; Bishop, Justin A; Saluja, Karan.
Afiliación
  • Amin SE; Department of Pathology and Laboratory Medicine, University of Texas Health Science Center at Houston, 6431 Fannin Street, Houston, TX, 77030, USA.
  • Lewis JS; Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Bridge JA; Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Scottsdale, AZ, USA.
  • Hang JF; Division of Molecular Pathology, ProPath, Dallas, TX, USA.
  • Naik U; Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, USA.
  • Bishop JA; Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Saluja K; School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Head Neck Pathol ; 18(1): 86, 2024 Sep 23.
Article en En | MEDLINE | ID: mdl-39312022
ABSTRACT

PURPOSE:

DEKAFF2 fusion-associated squamous cell carcinoma (DEKAFF2 SCC), also reported in the literature as low-grade papillary sinonasal (Schneiderian) carcinoma (LGPSC), is a rare, primarily bland-appearing, but locally aggressive neoplasm. Morphologically, these tumors can closely resemble sinonasal papilloma (SP), especially on small or limited biopsy, often leading to misdiagnosis. DEKAFF2 SCC is devoid of the underlying mutually exclusive EGFR or KRAS driver mutations of SP, suggesting it may represent a distinct unique entity.

METHODS:

In this study, we conducted a retrospective search of "unusual" SP reported either as atypical, dysplastic, or suspicious for malignant transformation at our institution in the last 13 years (2010-2023), to identify potential cases of DEKAFF2 SCC.

RESULTS:

Of the 201 SP cases during this time period, 30 "unusual" SP cases were identified. On morphologic review of these 30 cases, 6 were worrisome for DEKAFF2 SCC and were selected for AFF2 immunohistochemical stain (IHC), of which 3 cases were positive. All 3 AFF2 IHC positive cases were also positive for DEKAFF2 fusion by fluorescence in situ hybridization (FISH), thereby, confirming IHC results.

CONCLUSIONS:

This study highlights that AFF2 IHC can be an invaluable surrogate marker to FISH in identifying DEKAFF2 SCC in challenging cases to avoid misdiagnosis. Detailed clinical and pathologic data were collected to gain a better understanding of this emerging challenging entity. A literature review was performed to enrich our knowledge of DEKAFF2 SCC.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Proteínas Oncogénicas / Proteínas de Unión a Poli-ADP-Ribosa Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Head Neck Pathol Asunto de la revista: NEOPLASIAS / PATOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Proteínas Oncogénicas / Proteínas de Unión a Poli-ADP-Ribosa Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Head Neck Pathol Asunto de la revista: NEOPLASIAS / PATOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos