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

doi:10.1016/j.jtho.2022.05.009

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 journal › Article › peer-review

6 Scopus citations

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 language	English (US)
Pages (from-to)	1050-1053
Number of pages	4
Journal	Journal of Thoracic Oncology
Volume	17
Issue number	8
DOIs	https://doi.org/10.1016/j.jtho.2022.05.009
State	Published - Aug 2022

Keywords

AFF2
Carcinoma
Case report
DEK
Lung

ASJC Scopus subject areas

Oncology
Pulmonary and Respiratory Medicine

Access to Document

10.1016/j.jtho.2022.05.009

Cite this

@article{39834d9175ce486ebe514292673a2254,

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.",

keywords = "AFF2, Carcinoma, Case report, DEK, Lung",

author = "Omid Savari and Chang, {Jason C.} and Bishop, {Justin A.} and Sakthivel, {Muthu Kumar} and Askin, {Frederic B.} and Natasha Rekhtman",

note = "Publisher Copyright: {\textcopyright} 2022 International Association for the Study of Lung Cancer",

year = "2022",

month = aug,

doi = "10.1016/j.jtho.2022.05.009",

language = "English (US)",

volume = "17",

pages = "1050--1053",

journal = "Journal of Thoracic Oncology",

issn = "1556-0864",

publisher = "International Association for the Study of Lung Cancer",

number = "8",

}

TY - JOUR

T1 - First Report of Thoracic Carcinoma With DEK::AFF2 Rearrangement: A Case Report

AU - Savari, Omid

AU - Chang, Jason C.

AU - Bishop, Justin A.

AU - Sakthivel, Muthu Kumar

AU - Askin, Frederic B.

AU - Rekhtman, Natasha

PY - 2022/8

Y1 - 2022/8

N2 - 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.

AB - 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.

KW - AFF2

KW - Carcinoma

KW - Case report

KW - DEK

KW - Lung

UR - http://www.scopus.com/inward/record.url?scp=85133153482&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85133153482&partnerID=8YFLogxK

U2 - 10.1016/j.jtho.2022.05.009

DO - 10.1016/j.jtho.2022.05.009

M3 - Article

C2 - 35773081

AN - SCOPUS:85133153482

SN - 1556-0864

VL - 17

SP - 1050

EP - 1053

JO - Journal of Thoracic Oncology

JF - Journal of Thoracic Oncology

IS - 8

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this