title: Primary pulmonary hyalinizing clear cell carcinoma of bronchial submucosal gland origin.
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.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
authors.forename: Joaquín J
authors.initials: JJ
authors.lastname: García
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
authors.forename: Long
authors.initials: L
authors.lastname: Jin
authors.affiliation: Cox Health Systems, Springfield, MO, 65807, USA.
authors.forename: Shawn B
authors.initials: SB
authors.lastname: Jackson
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
authors.forename: Brandon T
authors.initials: BT
authors.lastname: Larsen
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
authors.forename: Jean E
authors.initials: JE
authors.lastname: Lewis
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
authors.forename: William R
authors.initials: WR
authors.lastname: Sukov
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA. Electronic address: roden.anja@mayo.edu.
authors.forename: Anja C
authors.initials: AC
authors.lastname: Roden
mesh_terms: D018262:Adenocarcinoma, Clear Cell / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002148:Calmodulin-Binding Proteins / Q000737:chemistry / Q000235:genetics; D002283:Carcinoma, Bronchogenic / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D015321:Gene Rearrangement; D006801:Humans; D016056:Immunodominant Epitopes / Q000032:analysis; D007150:Immunohistochemistry; D053552:Keratin-7 / Q000032:analysis; D053564:Keratins, Hair-Specific / Q000032:analysis; D008175:Lung Neoplasms / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins / Q000032:analysis; D010446:Peptide Fragments / Q000032:analysis; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000737:chemistry / Q000235:genetics
chemical_list: C081876:CKAP4 protein, human; D002148:Calmodulin-Binding Proteins; C500986:EWSR1 protein, human; D016056:Immunodominant Epitopes; C489804:KRTAP1-3 protein, human; D053552:Keratin-7; D053564:Keratins, Hair-Specific; D008565:Membrane Proteins; C495942:P40, iodinated C-terminal peptide, human; D010446:Peptide Fragments; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins
keywords: EWSR1 rearrangement; EWSR1-ATF1 fusion; FISH; RT-PCR; Salivary gland neoplasm