PMC8711735_01
Diagnosis results by CT scan and pathology. (A) CT diagnosis of lung tissue. (B) Image of PET/CT scan. (C) Pathological diagnosis result (100x magnification).
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Chest computed tomography (CT) revealed an irregular mass (5.3x2.6 cm) in the upper lobe of his left lung (Figure 1A). Furthermore, positron emission tomography/computed tomography (PET/CT) showed multiple lymph node and bone metastases (Figure 1B). Histological staining of lung tissue showed obvious tumor cell characteristics with adenoid and stratified structures and visible nuclear division (Figure 1C).
NGS and FISH findings for the primary lung tumor tissue sample. (A) NGS results showed breakpoint of PTH2R-ALK fusion. (B) A novel intergenic region between PTH2R exon 1 and ALK exon 20-29 fusion variant was identified. (C) A split signal was observed with a frequency of 25% in the FISH image (400x magnification).
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On December 6, 2019, a novel PTH2R-ALK fusion was identified in the patient's tumor tissue by NGS (Figure 2A), which was composed of exon 1 of PTH2R (parathyroid hormone second receptor) gene and exon 20-29 of ALK gene (Figure 2B). Fluorescence in situ hybridization further confirmed the ALK positive (Figure 2C).