PMC8039198_01
A summary of patient's treatment history and CT images accordingly. (A) CT scan showed no recurrence or metastasis on Jan 28, 2020. (B) PET/CT scan showed PD in bilateral lung (left) with bone metastasis (right) on Mar 11, 2020. (C) CT scan showed PD in bilateral lungs on Apr 13, 2020. (D) CT scan showed PD in bilateral lungs on May 12, 2020.
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The patient management is described in Figure 1. The following CT scan prompted no sign of recurrence or metastasis. (Figure 1A). PET/CT (Figure 1B) showed progressive disease (PD) with an extensive hypermetabolic mass in bilateral lung, extensive hypermetabolic mediastinal and hilar lymph nodes, and bone destruction in the T8, T12 vertebral bone metastasis. The patient was subsequently treated with afatinib (40 mg oral, qd) but quickly developed PD after one month (Figure 1C). The MET exon 14 skipping mutation was subsequently validated as a germline variant (AF=49.55%) by Ugene panel (Burning Rock Biotech, Guangzhou, China) using white blood cells (WBC) (Figure 2). The patient quickly developed PD on bilateral lung metastases revealed by a chest CT (Figure 1D) on May 12, 2020.
DNA sequencing (with white blood cells) showed a germline MET exon 14 skipping mutation.
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The MET exon 14 skipping mutation was subsequently validated as a germline variant (AF=49.55%) by Ugene panel (Burning Rock Biotech, Guangzhou, China) using white blood cells (WBC) (Figure 2). The patient quickly developed PD on bilateral lung metastases revealed by a chest CT (Figure 1D) on May 12, 2020.