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A Novel Fusion of TPR and ALK in Lung Adenocarcinoma

2014; Elsevier BV; Volume: 9; Issue: 4 Linguagem: Inglês

10.1097/jto.0000000000000093

1556-1380

Yoon‐La Choi, Maruja E. Lira, Min Eui Hong, Ryong Nam Kim, So‐Jung Choi, Ji‐Young Song, Kinnari Pandy, Derrick L. Mann, Joshua A. Stahl, Heather E. Peckham, Zongli Zheng, Joungho Han, Mao Mao, Young Tae Kim,

RNA modifications and cancer

Anaplastic lymphoma kinase (ALK) fusion is the most common mechanism for overexpression and activation in non-small-cell lung carcinoma. Several fusion partners of ALK have been reported, including echinoderm microtubule-associated protein-like 4, TRK-fused gene, kinesin family member 5B, kinesin light chain 1 (KLC1), protein tyrosine phosphatase and nonreceptor type 3, and huntingtin interacting protein 1 (HIP1).A 60-year-old Korean man had a lung mass which was a poorly differentiated adenocarcinoma with ALK overexpression. By using an Anchored Multiplex polymerase chain reaction assay and sequencing, we found that tumor had a novel translocated promoter region (TPR)-ALK fusion. The fusion transcript was generated from an intact, in-frame fusion of TPR exon 15 and ALK exon 20 (t(1;2)(q31.1;p23)). The TPR-ALK fusion encodes a predicted protein of 1192 amino acids with a coiled-coil domain encoded by the 5'-2 of the TPR and juxtamembrane and kinase domains encoded by the 3'-end of the ALK.The novel fusion gene and its protein TRP-ALK, harboring coiled-coil and kinase domains, could possess transforming potential and responses to treatment with ALK inhibitors. This case is the first report of TPR-ALK fusion transcript in clinical tumor samples and could provide a novel diagnostic and therapeutic candidate target for patients with cancer, including non-small-cell lung carcinoma.