PMC5840185_01
Molecular testing, characterization, and clinical course of the patient with the atypical fusion variant (v1insLTBP1) with a 129 bp insertion in the EML4-ALK junction.. Notes: (A) Staining with IHC VENTANA clone DF53 (100x), (B) FISH using Vysis LSI ALK dual-color break-apart probe (100x), (C) gel visualization of RT-PCR bands (using primers for v1); R1, replicate 1; R2, replicate 2; C-, negative control; C+, positive control; NTC, non-template control, (D) Sanger sequencing chromatogram, (E) amino acid sequence of the EML4-ALK fusion protein (EML4 in yellow, ALK in blue, new 43 aa in red, (F) thoracic assessment by CT: at diagnosis (June 2016), response to crizotinib after 1 month of treatment (September 2016), and monitoring after 5 months of treatment (January 2017).. Abbreviations: ALK, anaplastic lymphoma receptor tyrosine kinase; CT, computed tomography; EML4, echinoderm microtubule-associated protein 4; FISH, fluorescence in situ hybridization; IHC, immunohistochemistry; RT-PCR, reverse transcriptase-polymerase chain reaction.
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A computed tomography scan revealed pericardial effusion; bilateral pleural effusion; a 3 cm mass in the right lung; hilar, mediastinal, and retroperitoneal lymphadenopa-thies; and ascitis (Figure 1). The in silico translation of this new variant, which will be referred to as v1insLTBP1, showed an in-frame insertion of 43 aminoacids (Figure 1).