FIGURE 1.
SQSTM1-NTRK1 fusion transcripts detected by AMP in a NSCLC. (A) Contiguous reads from amplified transcripts mapped to the locations of SQSTM1 on chromosome 5 and NTRK1 on chromosome 1 (red arrowheads). (B) Visualization of subset of sequence read pileup showing fusion reads. The y axis represents read coverage. The x axis represents reference bases and their respective codons below. Shown in gray are read portions corresponding to the randomly ligated universal adapter end with staggered distribution of reads and differing start positions. Shown in blue are read portions corresponding to the anchored end targeted with GSP1 and GSP2. The fusion is in-frame with respect to both transcripts. (C) Schematic drawing of gene fusion involving SQSTM1 and NTRK1. TM, transmembrane domain. Not drawn to scale. (D) FISH confirmation SQSTM1-NTRK1 rearrangement showed individual 3’ (red only) probe signals that represent a region downstream of the NTRK1 gene along with normal paired green and red signals that represent non-rearranged alleles. White arrows highlight representative red only signals.