title: EML4-ALK translocation in both metachronous second primary lung sarcomatoid carcinoma and lung adenocarcinoma: a case report.
abstract: The EML4-ALK gene translocation was described in a non small cell lung cancer (NSCLC) subset, with a potent oncogenic activity. It represents one of the newest molecular targets in NSCLC. We report on the case of a metachronous second primary lung sarcomatoid carcinoma after resection of lung adenocarcinoma both with ALK translocation, in a non-smoking patient. EML4-ALK rearrangement was detected with immunohistochemistry and confirmed with fluorescent in situ hybridization (FISH). To assess the clonal relationship between the two tumors, both adenocarcinoma and sarcomatoid carcinoma were analyzed by array comparative genomic hybridization (aCGH). We observed different genomic profiles suggesting that the tumors arose independently and were thus multiple primaries. To the best of our knowledge, this is the first report concerning the presence of the EML4-ALK fusion gene in a sarcomatoid carcinoma of the lung. Crizotinib, the ALK tyrosine kinase inhibitor, is highly effective in ALK-rearranged NSCLC; therefore, it may be imperative to identify all NSCLC that harbor ALK translocations in the near future. Starting from our evidence, tumors with sarcomatoid histology may need to be screened for the presence of EML4-ALK rearrangement.
authors.affiliation: Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Pisana, Pisa, Italy.
authors.forename: Greta
authors.initials: G
authors.lastname: Alì
authors.forename: Agnese
authors.initials: A
authors.lastname: Proietti
authors.forename: Cristina
authors.initials: C
authors.lastname: Niccoli
authors.forename: Serena
authors.initials: S
authors.lastname: Pelliccioni
authors.forename: Nicla
authors.initials: N
authors.lastname: Borrelli
authors.forename: Riccardo
authors.initials: R
authors.lastname: Giannini
authors.forename: Cristiana
authors.initials: C
authors.lastname: Lupi
authors.forename: Angelo
authors.initials: A
authors.lastname: Valetto
authors.forename: Veronica
authors.initials: V
authors.lastname: Bertini
authors.forename: Marco
authors.initials: M
authors.lastname: Lucchi
authors.forename: Alfredo
authors.initials: A
authors.lastname: Mussi
authors.forename: Gabriella
authors.initials: G
authors.lastname: Fontanini
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000077192:Adenocarcinoma of Lung; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012509:Sarcoma / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C522504:EML4-ALK fusion protein, human; D015514:Oncogene Proteins, Fusion
keywords: Adenocarcinoma; Array comparative genomic hybridization; EML4-ALK rearrangement; Fluorescent in situ hybridization; Immunohistochemistry; Lung; Reverse transcriptase-polymerase chain reaction; Sarcomatoid carcinoma