Abstract
Hyalinizing clear cell carcinoma (HCCC) has only been described in salivary glands of the head and neck. We report a 38-year-old man with a 2.6-cm lung tumor that was growing in a peribronchial location and had morphologic features of HCCC. The tumor cells expressed cytokeratin 7 and keratin AE1/AE3, and the vast majority of tumor cells marked also with p63 and p40. They were negative for cytokeratin 20, S-100, smooth muscle actin, napsin A, and thyroid transcription factor-1. Fluorescence in situ hybridization revealed Ewing Sarcoma Breakpoint Region 1 (EWSR1) rearrangement, and reverse-transcription polymerase chain reaction confirmed the presence of the EWSR1-Activating Transcription Factor 1 (ATF1) fusion transcript, which was subsequently sequenced. The morphologic, immunophenotypic, cytogenetic, and molecular findings together with the patient's history and location of the tumor support a diagnosis of primary pulmonary HCCC of bronchial submucosal gland origin. It is our understanding that this is the first report of HCCC arising as a primary tumor outside the head and neck region.
Original language | English (US) |
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Pages (from-to) | 471-475 |
Number of pages | 5 |
Journal | Human Pathology |
Volume | 46 |
Issue number | 3 |
DOIs | |
State | Published - Mar 1 2015 |
Keywords
- EWSR1 rearrangement
- EWSR1-ATF1 fusion
- FISH
- RT-PCR
- Salivary gland neoplasm
ASJC Scopus subject areas
- Pathology and Forensic Medicine