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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.

SUBMITTER: Savari O

PROVIDER: S-EPMC9357138 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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

Savari Omid O Chang Jason C JC Bishop Justin A JA Sakthivel Muthu Kumar MK Askin Frederic B FB Rekhtman Natasha N

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 20220628 8

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 (e ...[more]

PMID: 35773081

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Project description:BackgroundSinonasal adenosquamous carcinoma is rare, and there are almost no studies detailing morphology or characterizing their genetic driver events. Further, many authors have termed sinonasal tumors with combined squamous carcinoma and glands as mucoepidermoid carcinoma but none have analyzed for the presence of MAML2 rearrangement.MethodsCases from 2014 to 2020 were collected and diagnosed using World Health Organization criteria. They were tested for p16 expression by immunohistochemistry (70% cut-off), DEK::AFF2 fusion by fluorescence in situ hybridization (FISH) and AFF2 immunohistochemistry, MAML2 rearrangement by FISH, and low- and high-risk HPV by RNA ISH and reverse transcription PCR, respectively. Detailed morphology and clinical features were reviewed.ResultsThere were 7 male (64%) and 4 female (36%) patients with a median age of 69 years, most Caucasian (10 of 11 or 91%). Most had tobacco exposure (8/11, 73%) and most presented with epistaxis, a visible nasal mass, and/or facial pain. Several had a precursor papillomas (3 of 11, 27%). The squamous component had variable keratinization, 5 of 11 (46%) of which would be described as keratinizing, 3 non-keratinizing, and 2 with mixed features. All had gland formation, by definition, and 2 of 11 (18%) had ciliated tumor cells. None of the 11 cases had MAML2 rearrangement and one had DEK::AFF2 fusion with associated positive nuclear AFF2 protein immunostaining. Most were p16 positive (7 of 11, 64%) and all 7 of these were hrHPV positive either by RNA ISH or RT-PCR. Two of the p16-negative tumors were positive for lrHPV by RNA ISH. Treatment included surgery alone (4 of 11, 36%), surgery with adjuvant radiation (5 of 11, 45%), and surgery with radiation and chemotherapy (2 of 11, 18%). Four of 11 patients (36%) suffered disease recurrence, two requiring re-operation and who were disease free at last follow-up, one receiving additional chemotherapy and who was alive with disease. The other elected to undergo palliative therapy and died of disease.ConclusionSinonasal adenosquamous carcinoma is a somewhat heterogeneous tumor not infrequently arising ex papilloma and having various drivers including high- and low-risk HPV and rarely DEK::AFF2 fusion. The prognosis appears favorable when proper treatment is possible.

Dataset Information

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

Publications

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

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