PMC6625745_01
(A) Junction reads for CCDC6-RET fusion transcripts as determined by next-generation sequencing of tumor cDNA from the patient. (B) Fluorescence in situ hybridization analysis of tumor tissue from the patient with break-apart probes for RET (5' probe, green; 3' probe, red). The RET rearrangement is indicated by the presence of a single isolated red signal (arrowhead). (C) Chest computed tomography scans of the patient before, 7 weeks after, and 23 months after initiation of treatment with pemetrexed and carboplatin.
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The multiplex genetic testing identified a CCDC6-RET fusion gene in tissue specimens obtained from the patient for lung cancer diagnosis (Figure 1A). We verified this chromosomal inversion by fluorescence in situ hybridization with probes that flank the RET translocation site identified in tumors positive for the CCDC6-RET fusion (Figure 1B). After 7 weeks of pemetrexed administration, computed tomography revealed shrinkage of the primary lung lesion (Figure 1C), which was ultimately categorized as a partial response.
Time course of serum CEA level for the patient after initiation of pemetrexed treatment at time zero.. Abbreviations: CEA, carcinoembryonic antigen; PD, progressive disease.
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The serum carcinoembryonic antigen (CEA) level had decreased markedly by this time and remained low thereafter throughout the period of tumor regression (Figure 2).