title: Rhabdoid large cell carcinoma of lung, with illustrative immunohistochemical and molecular findings.
abstract: Large cell carcinomas with rhabdoid phenotype (LCC-RP) account for <1% of pulmonary large cell carcinomas and are associated with extremely poor prognosis. We report a case of a 64-year-old male patient who presented at an advanced stage with a LCC-RP, arising from a poorly differentiated adenocarcinoma of the lung. Ninety percent of the tumor consisted of large pleomorphic rhabdoid tumor cells that showed eosinophilic cytoplasmic inclusions and the remaining 10% showed evidence of adenomatous differentiation. Rhabdoid areas were immunohistochemically positive for pan-cytokeratin AE1/3, epithelial membrane antigen, vimentin, thyroid transcription factor-1, integrase interactor-1, and negative for desmin. Nuclear positivity was absent for Myo-D1. The parent adenocarcinoma was positive for thyroid transcription factor-1 and cytokeratins 7. Epidermal growth factor receptor mutation analysis revealed the same mutation (p.delL747-T751) in both areas, suggesting that the malignant rhabdoid phenotype represents a dedifferentiation phenomenon of the adenocarcinoma. This is the first reported case of an Exon 19 deletion in epidermal growth factor receptor of the activating type detected in a LCC-RP associated with a poorly differentiated pulmonary adenocarcinoma.
authors.affiliation: Cantonal Institute of Pathology, Liestal, Switzerland. m.dettmer@gmx.net
authors.forename: Matthias
authors.initials: M
authors.lastname: Dettmer
authors.forename: Juergen
authors.initials: J
authors.lastname: Hench
authors.forename: Brendan
authors.initials: B
authors.lastname: Pang
authors.forename: Niels
authors.initials: N
authors.lastname: Willi
authors.forename: Gieri
authors.initials: G
authors.lastname: Cathomas
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000077192:Adenocarcinoma of Lung; D014408:Biomarkers, Tumor / Q000235:genetics*; D018287:Carcinoma, Large Cell / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D058750:Epithelial-Mesenchymal Transition; D066246:ErbB Receptors / Q000235:genetics*; D005091:Exons; D006801:Humans; D007150:Immunohistochemistry; D008175:Lung Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018335:Rhabdoid Tumor / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D017422:Sequence Analysis, DNA
chemical_list: D014408:Biomarkers, Tumor; D066246:ErbB Receptors