First report of thoracic carcinoma with DEK::AFF2 rearrangement: A case report Journal Article
| Authors: | Savari, O.; Chang, J. C.; Bishop, J. A.; Sakthivel, M. K.; Askin, F. B.; Rekhtman, N. |
| Article Title: | First report of thoracic carcinoma with DEK::AFF2 rearrangement: A case report |
| Abstract: | DEK::AFF2 carcinomas of the head and neck region have been recently described and reported to have aggressive clinical behavior but exceptional sensitivity to immunotherapy. We report a case of a 26-year-old female, never smoker, with a 5.2-cm left lower lobe central lung mass, with morphologic features identical to those reported for DEK::AFF2 head and neck carcinomas, including mixed papillary exophytic and invasive components, squamous/basaloid features, and monomorphic cytomorphology. DEK (exon 7)::AFF2 (exon 9) fusion was identified by whole-transcriptome RNA sequencing. This is the first report of thoracic DEK::AFF2 carcinoma, indicating that these tumors are not confined to the head and neck region but can involve both upper and lower respiratory tracts. This entity should be considered in the differential diagnosis of squamous cell carcinomas in never smokers lacking other known oncogenic mutations. © 2022 International Association for the Study of Lung Cancer |
| Keywords: | immunohistochemistry; adult; clinical article; oncoprotein; genetics; case report; squamous cell carcinoma; carcinoma, squamous cell; positron emission tomography; nonhistone protein; metabolism; chromosomal proteins, non-histone; computer assisted tomography; basal cell carcinoma; nuclear protein; lung neoplasms; pneumonectomy; differential diagnosis; oligodendrocyte transcription factor 2; sonic hedgehog protein; pathology; fibroblast growth factor receptor 3; protein p53; carcinogenesis; nuclear proteins; coughing; dyspnea; thoracic neoplasms; lung tumor; oncogene; gene rearrangement; head and neck neoplasms; oncogene proteins; gene fusion; carcinoma; lung; lung alveolus cell carcinoma; thorax radiography; head and neck tumor; head and neck carcinoma; bronchus tumor; genetic identification; hemoptysis; comedo; bloom syndrome helicase; tp53 gene; blm gene; dek; fgfr3 gene; upper respiratory tract; humans; human; female; article; lower respiratory tract; serine/threonine protein kinase wnk1; poly adp ribose binding protein; poly-adp-ribose binding proteins; thoracic cancer; whole transcriptome sequencing; aff2; aff2 protein, human; aff2 gene; dek protein, human; dek gene; olig2 gene; patch1 gene; shh gene; wnk1 gene; thoracic tumor |
| Journal Title: | Journal of Thoracic Oncology |
| Volume: | 17 |
| Issue: | 8 |
| ISSN: | 1556-0864 |
| Publisher: | Elsevier Inc. |
| Date Published: | 2022-08-01 |
| Start Page: | 1050 |
| End Page: | 1053 |
| Language: | English |
| DOI: | 10.1016/j.jtho.2022.05.009 |
| PUBMED: | 35773081 |
| PROVIDER: | scopus |
| PMCID: | PMC9357138 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 2 September 2022 -- Source: Scopus |
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