title: Aberrant expression of anaplastic lymphoma kinase in lung adenocarcinoma: Analysis of circulating free tumor RNA using one-step reverse transcription-polymerase chain reaction.
abstract: Lung adenocarcinoma patients harboring anaplastic lymphoma kinase (ALK) gene rearrangements respond well to approved ALK inhibitors. However, to date, limited evidence is available regarding whether using circulating free tumor mRNA to identify aberrant ALK expression is possible, and its feasibility remains to be clearly addressed. The present study evaluated ALK expression by a one-step reverse transcription‑polymerase chain reaction (PCR) assay on the circulating free tumor mRNA from 12 lung adenocarcinoma patients. Additionally, the present study tested for ALK rearrangements by fluorescence in situ hybridization (FISH) and immunohistochemistry. A molecular genetic characterization was performed on tumor tissues and plasma samples. Aberrant ALK expression was detected in 2/12 patients using mRNA purified from plasma specimens and the results agreed with the FISH and immunohistochemistry findings of solid biopsy samples. The detection of aberrant ALK expression on circulating free tumor RNA may be feasible using a one‑step real‑time PCR assay and may be particularly helpful when a solid biopsy sample is not available.
authors.affiliation: Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, I‑56126 Pisa, Italy.
authors.forename: Rossella
authors.initials: R
authors.lastname: Bruno
authors.affiliation: Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, I‑56126 Pisa, Italy.
authors.forename: Mirella
authors.initials: M
authors.lastname: Giordano
authors.affiliation: Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, I‑56126 Pisa, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Giannini
authors.affiliation: Unit of Pathological Anatomy, University Hospital of Pisa, I‑56100 Pisa, Italy.
authors.forename: Greta
authors.initials: G
authors.lastname: Alì
authors.affiliation: Unit of Pneumology, University Hospital of Pisa, I‑56100 Pisa, Italy.
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Puppo
authors.affiliation: Endoscopic Section of Pneumology, University Hospital of Pisa, I‑56100 Pisa, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ribechini
authors.affiliation: Unit of Pneumology, University Hospital of Pisa, I‑56100 Pisa, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Chella
authors.affiliation: Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, I‑56126 Pisa, Italy.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Fontanini
mesh_terms: D000230:Adenocarcinoma / Q000097:blood / Q000235:genetics*; D000077192:Adenocarcinoma of Lung; D000368:Aged; D000369:Aged, 80 and over; D000077548:Anaplastic Lymphoma Kinase; D014408:Biomarkers, Tumor; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008175:Lung Neoplasms / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012334:RNA, Neoplasm / Q000097:blood / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D014408:Biomarkers, Tumor; D012334:RNA, Neoplasm; C000626173:ALK protein, human; D000077548:Anaplastic Lymphoma Kinase; D020794:Receptor Protein-Tyrosine Kinases