TY - JOUR
T1 - DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base
T2 - Detailed Clinicopathologic Characterization of a Distinctive Entity
AU - Rooper, Lisa M.
AU - Agaimy, Abbas
AU - Dickson, Brendan C.
AU - Dueber, Julie C.
AU - Eberhart, Charles G.
AU - Gagan, Jeffrey
AU - Hartmann, Arndt
AU - Khararjian, Armen
AU - London, Nyall R.
AU - MacMillan, Christina M.
AU - Palsgrove, Doreen N.
AU - Nix, J. Stephen
AU - Sandison, Ann
AU - Stoehr, Robert
AU - Truong, Tra
AU - Weinreb, Ilan
AU - Bishop, Justin A.
N1 - Publisher Copyright:
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2021/12/1
Y1 - 2021/12/1
N2 - 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.
AB - 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.
KW - AFF2, sinonasal tract
KW - DEK
KW - DEK-AFF2
KW - immunohistochemistry
KW - molecular diagnostics
KW - nasal neoplasms
KW - skull base neoplasms
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U2 - 10.1097/PAS.0000000000001741
DO - 10.1097/PAS.0000000000001741
M3 - Article
C2 - 34049316
AN - SCOPUS:85121955845
SN - 0147-5185
VL - 45
SP - 1682
EP - 1693
JO - American Journal of Surgical Pathology
JF - American Journal of Surgical Pathology
IS - 12
ER -