First Report of Thoracic Carcinoma With DEK::AFF2 Rearrangement: A Case Report

Omid Savari, Jason C. Chang, Justin A. Bishop, Muthu Kumar Sakthivel, Frederic B. Askin, Natasha Rekhtman

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1050-1053
Number of pages4
JournalJournal of Thoracic Oncology
Volume17
Issue number8
DOIs
StatePublished - Aug 2022

Keywords

  • AFF2
  • Carcinoma
  • Case report
  • DEK
  • Lung

ASJC Scopus subject areas

  • Oncology
  • Pulmonary and Respiratory Medicine

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