PMC9376587_01
(A) Sequencing reads of multiple rearrangements are shown by the Integrative Genomics Viewer. (B) Positive ALK expression detected by IHC assay.
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Next-generation sequencing (NGS) targeting 1,267 genes identified a rare novel rhabdomyosarcoma 2-associated transcript (RMST)-ALK translocation (R5'UTR: A20) and an ALK-intergenic (A19: intergenic) rearrangement (Figure 1A). The immunohistochemical (IHC) results confirmed that the tumor was ALK fusion positive (Figure 1B).
(A) The changes in serum carcinoembryonic antigen (CEA) and CA 125 level during ceritinib treatment. The left red arrow means initiation of ceritinib. (B) Dynamic imaging of lung lesions at different stages of treatment. The red arrows indicate the baseline lesion and pericardial effusion.
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CEA declined from 13.38 to 4.2 mug/l, and his CA 125 declined from 465.7 to 54.6 U/ml (Figure 2A). Chest CT demonstrated significantly reduced hydropericardium 1.5 months later, confirming a partial response (Figure 2B).