DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base: Detailed Clinicopathologic Characterization of a Distinctive Entity.
Adolescent
Adult
Aged
Biomarkers, Tumor
/ analysis
Chromosomal Proteins, Non-Histone
/ genetics
Female
Gene Fusion
Genetic Predisposition to Disease
Humans
Immunohistochemistry
In Situ Hybridization
Male
Middle Aged
Nuclear Proteins
/ genetics
Oncogene Proteins
/ genetics
Paranasal Sinus Neoplasms
/ chemistry
Phenotype
Poly-ADP-Ribose Binding Proteins
/ genetics
RNA-Seq
Skull Base Neoplasms
/ chemistry
Squamous Cell Carcinoma of Head and Neck
/ chemistry
Young Adult
Journal
The American journal of surgical pathology
ISSN: 1532-0979
Titre abrégé: Am J Surg Pathol
Pays: United States
ID NLM: 7707904
Informations de publication
Date de publication:
01 12 2021
01 12 2021
Historique:
pubmed:
29
5
2021
medline:
30
11
2021
entrez:
28
5
2021
Statut:
ppublish
Résumé
A novel DEK-AFF2 fusion was recently reported in 4 nonkeratinizing squamous cell carcinomas of the sinonasal region and skull base, including 1 with exceptional response to immunotherapy, but it is not yet clear if this rearrangement defines a unique clinicopathologic category or represents a rare event. This study aims to characterize a larger cohort of carcinomas with DEK-AFF2 fusions to assess whether they truly constitute a distinctive entity. Among 27 sinonasal and skull base nonkeratinizing squamous cell carcinoma that were negative for human papillomavirus and Epstein-Barr virus, RNA sequencing identified DEK-AFF2 fusions in 13 cases (48%). Nine were centered in the nasal cavity, 2 in the middle ear/temporal bone, 1 in the nasopharynx, and 1 in the orbit. These tumors displayed recurrent histologic features including (1) complex endophytic and exophytic, frequently papilloma-like growth, (2) transitional epithelium with eosinophilic to amphophilic cytoplasm, (3) absent or minimal keratinization with occasional compact keratin pearls, (4) monotonous nuclei, and (5) prominent tumor-infiltrating neutrophils or stromal lymphocytes. This appearance not only overlaps with high-grade basaloid sinonasal carcinomas but also with benign papillomas and tumors reported as low-grade papillary Schneiderian carcinoma. However, DEK-AFF2 carcinomas showed frequent local recurrence, cervical lymph node metastases, and distant metastasis with 2 deaths from disease, confirming they are aggressive malignancies despite relatively bland histology. Overall, the distinctive molecular, histologic, and clinical features of DEK-AFF2 carcinomas suggest they represent a unique entity in the sinonasal region. This tumor merits increased pathologic recognition to better understand its prognostic and therapeutic implications.
Identifiants
pubmed: 34049316
doi: 10.1097/PAS.0000000000001741
pii: 00000478-202112000-00012
doi:
Substances chimiques
AFF2 protein, human
0
Biomarkers, Tumor
0
Chromosomal Proteins, Non-Histone
0
DEK protein, human
0
Nuclear Proteins
0
Oncogene Proteins
0
Poly-ADP-Ribose Binding Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1682-1693Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of Interest and Source of Funding: Supported in part by Jane B. and Edwin P. Jenevein, MD Endowment for Pathology at UT Southwestern Medical Center. The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article.
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